Experts and Doctors on genetic predisposition to disease in China

Summary

Locale: China
Topic: genetic predisposition to disease

Top Publications

  1. Bian L, Yang J, Guo T, Sun Y, Duan S, Chen W, et al. Insulin-degrading enzyme and Alzheimer disease: a genetic association study in the Han Chinese. Neurology. 2004;63:241-5 pubmed
    ..These results suggest a possible synergic interaction between IDE and APOE epsilon4 in the risk to develop late-onset sporadic AD. IDE might modify the effect of the APOE epsilon4 risk factor in the Han Chinese population. ..
  2. Ip W, Chan K, Law H, Tso G, Kong E, Wong W, et al. Mannose-binding lectin in severe acute respiratory syndrome coronavirus infection. J Infect Dis. 2005;191:1697-704 pubmed
    ..These results suggest that MBL contributes to the first-line host defense against SARS-CoV and that MBL deficiency is a susceptibility factor for acquisition of SARS. ..
  3. Zhang H, Zhong B, Zhu W, Xie S, Qiu L, Zhu L, et al. CD14 C-260T gene polymorphism and ischemic heart disease susceptibility: a HuGE review and meta-analysis. Genet Med. 2009;11:403-8 pubmed publisher
    ..Further studies are warranted to assess these associations in greater details, especially in East Asian and Indian populations. ..
  4. Zheng J, Jiang L, Zhang L, Yang L, Deng J, You Y, et al. Functional genetic variations in the IL-23 receptor gene are associated with risk of breast, lung and nasopharyngeal cancer in Chinese populations. Carcinogenesis. 2012;33:2409-16 pubmed publisher
    ..Our findings indicate that the IL-23R rs10889677A>C polymorphism may influence T-cell proliferation, resulting in changes in the levels of Tregs in vivo and modifying cancer susceptibility. ..
  5. Wang S, Ma F, Zhao J. Expressions of nuclear factor-kappa B p50 and p65 and their significance in the up-regulation of intercellular cell adhesion molecule-1 mRNA in the nasal mucosa of allergic rhinitis patients. Eur Arch Otorhinolaryngol. 2013;270:1329-34 pubmed publisher
    ..8995, P < 0.01; r = 0.7601, P < 0.01). In conclusion, NF-?B plays a key role in AR. Excessively activated NF-?B promotes the transcription of ICAM-1 mRNA. ICAM-1 is related to the pathogenesis and development of AR...
  6. Liu J, Zhang H. A comprehensive study indicates PRSS1 gene is significantly associated with pancreatitis. Int J Med Sci. 2013;10:981-7 pubmed publisher
    ..In conclusion, PRSS1 gene was significantly associated with total pancreatitis disease, both totally and separately. ..
  7. Wu Y, Liu X, Hu L, Tao H, Guan X, Zhang K, et al. Copy number loss of variation_91720 in PIK3CA predicts risk of esophageal squamous cell carcinoma. Int J Clin Exp Pathol. 2015;8:14479-85 pubmed
    ..0003) and increased with the copy number gain of Variation_91720. Our findings suggest that copy number loss of Variation_91720 in PIK3CA predicts risk of ESCC, which might serve as a biomarker that for early diagnosis of ESCC. ..
  8. Chen S, Wang Z, Zhang L, Lu G, Zhou C, Wang D, et al. CAMK4 gene variation is associated with hypertension in a Uygur population. Genet Mol Res. 2016;15: pubmed publisher
    ..200; 95% confidence interval = 1.473-3.285, P < 0.001). However, no significant correlation was found in the Han and Kazak groups. The T-allele of rs10491334 in CAMK4 was associated with hypertension in the Uygur group. ..
  9. Qian J, Song Z, Lv Y, Huang X, Mao B. Glutathione S-Transferase T1 Null Genotype is Associated with Susceptibility to Inflammatory Bowel Disease. Cell Physiol Biochem. 2017;41:2545-2552 pubmed publisher
    ..023) after adjusting for study heterogeneity. The GSTT1 null genotype is significantly associated with an increased susceptibility to inflammatory bowel disease and is a risk factor for both ulcerative colitis and Crohn's disease. ..

More Information

Publications336 found, 100 shown here

  1. He X, Su J, Zhang Y, Huang X, Liu Y, Ding D, et al. Association between the p53 polymorphisms and breast cancer risk: meta-analysis based on case-control study. Breast Cancer Res Treat. 2011;130:517-29 pubmed publisher
  2. Zhang Y, Wang B, Wan H, Zhou Q, Li T. Meta-analysis of the insulin degrading enzyme polymorphisms and susceptibility to Alzheimer's disease. Neurosci Lett. 2013;541:132-7 pubmed publisher
    ..However, larger scale association studies are necessary to further validate the association of IDE polymorphisms with sporadic AD risk and to define potential gene-gene interactions. ..
  3. Tang N, Yeung H, Hung V, Di Liao C, Lam T, Yeung H, et al. Genetic epidemiology and heritability of AIS: A study of 415 Chinese female patients. J Orthop Res. 2012;30:1464-9 pubmed publisher
    ..Here we provided a large-scale study for the genetic aggregation estimates in an Asian population for the first time. The finding also positioned AIS among other common disease or complex traits with a high heritability. ..
  4. Zhou F, Zhu H, Luo D, Wang M, Dong X, Hong Y, et al. A functional polymorphism in Pre-miR-146a is associated with susceptibility to gastric cancer in a Chinese population. DNA Cell Biol. 2012;31:1290-5 pubmed publisher
    ..51, 95% CI = 1.25-1.81) rather than in older subjects. Our results suggest that the rs2910164 polymorphism in the sequence of miR-146a precursor may influence the susceptibility to gastric cancer in our Chinese population. ..
  5. Jin C, Zhang F, Zhu J, Yuan J, Xia M, Xu Q, et al. Association of CYP46 gene polymorphism with sporadic Alzheimer's disease in Chinese Han populations: a meta-analysis. Int J Neurosci. 2013;123:226-32 pubmed publisher
    ..05 for each model). In conclusion, despite several limitations, this meta-analysis indicates that the CYP46 gene SNP rs754203 is not significantly associated with SAD susceptibility in Chinese Han populations. ..
  6. Wen J, Song C, Liu J, Chen J, Zhai X, Hu Z. Expression quantitative trait loci for TNFRSF10 influence both HBV infection and hepatocellular carcinoma development. J Med Virol. 2016;88:474-80 pubmed publisher
    ..These findings suggest that eQTL SNPs for TNFRSF10 may be susceptibility markers for HCC and chronic HBV infection. ..
  7. Pang J, Xiong H, Yang H, Ou Y, Xu Y, Huang Q, et al. Circulating miR-34a levels correlate with age-related hearing loss in mice and humans. Exp Gerontol. 2016;76:58-67 pubmed publisher
    ..However, SIRT1, Bcl-2, and E2F3 showed no correlation with AHL in humans. In summary, circulating miR-34a level may potentially serve as a useful biomarker for early detection of AHL. ..
  8. Nong L, Luo B, Zhang L, Nong H. Interleukin-18 gene promoter polymorphism and the risk of nasopharyngeal carcinoma in a Chinese population. DNA Cell Biol. 2009;28:507-13 pubmed publisher
    ..Consistent with the results of the genotyping analyses, the -137 C/-607 A haplotype was associated with a significantly increased risk of NPC as compared with the -137 G/-607 C haplotype (OR = 1.721; 95% CI, 1.262-2.349; p = 0.001). ..
  9. Huang Q, Shao F, Wang C, Qiu L, Hu Y, Yu J. Association between CTLA-4 exon-1 +49A>G polymorphism and primary biliary cirrhosis risk: a meta-analysis. Arch Med Res. 2011;42:235-8 pubmed publisher
    ..AA OR=1.432; 95% CI=1.078-1.902). This meta-analysis suggests that the CTLA-4 +49G>A polymorphism may be a risk factor for primary biliary cirrhosis in Asians. ..
  10. Zhang P, Wang J, Lu T, Wang X, Zheng Y, Guo S, et al. miR-449b rs10061133 and miR-4293 rs12220909 polymorphisms are associated with decreased esophageal squamous cell carcinoma in a Chinese population. Tumour Biol. 2015;36:8789-95 pubmed publisher
    ..77, 95% CI 0.61-0.96). This study provides the first evidence that miR-449b rs10061133 and miR-4293 rs12220909 are associated with ESCC risk in Chinese population. ..
  11. Ye N, Rao S, Du T, Hu H, Liu Z, Shen Y, et al. Intergenic variants may predispose to major depression disorder through regulation of long non-coding RNA expression. Gene. 2017;601:21-26 pubmed publisher
    ..001), so that its tag SNPs were genotyped and rs2272260 in LINC00998 was found to be associated with MDD (?2=26.39, P=2.8E-07). This work suggests that non-coding variants may play an important role in conferring risk of MDD. ..
  12. Zhu Y, Zhuang Y, Yang G, Qiang X, Yang L, Shen Y. [Polymorphisms of Fc?RIIA, Fc?RIIIA and Fc?RIIB in patients with immune thrombocytopenia and their clinical significance]. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2013;21:135-9 pubmed publisher
    ..It is concluded that the polymorphism of Fc?RIIIA-158V/F, but not Fc?RIIA-131H/R or Fc?RIIB-232T/I, correlates with the patient susceptibility and therapeutic response of ITP. ..
  13. Qian Y, Li D, Ma L, Zhang H, Gong M, Li S, et al. TPM1 polymorphisms and nonsyndromic orofacial clefts susceptibility in a Chinese Han population. Am J Med Genet A. 2016;170A:1208-15 pubmed publisher
    ..TPM1 polymorphisms might contribute to the etiology of NSOC, and more emphasis should be placed on TPM1 during craniofacial development. ..
  14. Min Pan -, Jiang M, Wei M, Liu Z, Jiang W, Geng H, et al. Association of angiotensin-converting enzyme gene 2350G>A polymorphism with myocardial infarction in a Chinese population. Clin Appl Thromb Hemost. 2009;15:435-42 pubmed publisher
    ..05). These results suggest that ACE2350G>A polymorphism is associated with acute MI, and A allele carrier is an independent risk factor for acute MI in the Chinese Han population. ..
  15. Si F, Feng Y, Han M. Association between interleukin-17 gene polymorphisms and the risk of laryngeal cancer in a Chinese population. Genet Mol Res. 2017;16: pubmed publisher
    ..08-3.39, respectively). In conclusion, the rs2275913 IL-17A (197 G/A) is associated with the incidence and development of laryngeal cancer in the Chinese population, and the AA and GA+AA genotypes harbor a high laryngeal cancer risk. ..
  16. Yuan J, Jin C, Qin H, Wang J, Sha W, Wang M, et al. Replication study confirms link between TSPAN18 mutation and schizophrenia in Han Chinese. PLoS ONE. 2013;8:e58785 pubmed publisher
    ..047-1.369) between risk for SCZ and this 'A' allele. These results confirm the significant association, in Han Chinese populations, of increased SCZ risk and the variant of the TSPAN18 gene containing the 'A' allele of SNP rs835784. ..
  17. Wang C, Lai Q, Zhang S, Hu J. Senile cataract and genetic polymorphisms of APE1, XRCC1 and OGG1. Int J Clin Exp Pathol. 2015;8:16036-45 pubmed
    ..In OGG1 Ser326Cys and XRCC1 Arg399Gln polymorphisms, there were no significant differences in frequencies of the variant homozygous in patients compared with controls. ..
  18. Xie G, Guo D, Li Y, Liang S, Wu Y. The impact of severity of hypertension on association of PGC-1alpha gene with blood pressure and risk of hypertension. BMC Cardiovasc Disord. 2007;7:33 pubmed
    ..This finding suggested severe hypertension rather than regular hypertension should be used as the outcome in studies on association of genes with blood pressure or hypertension, in order to have a better power. ..
  19. Sun F, Sun Y, Zhang D, Zhang J, Song B, Zheng H. Association of interleukin-10 gene polymorphism with cachexia in Chinese patients with gastric cancer. Ann Clin Lab Sci. 2010;40:149-55 pubmed
    ..21; 95% CI, 1.14 - 4.30; p = 0.02). Our results suggest that genetic polymorphisms of IL-10 contribute to the susceptibility to cachexia in patients with gastric cancer in the Chinese population. ..
  20. Mayinu -, Chen X. Evaluation of LOXL1 polymorphisms in exfoliation syndrome in the Uygur population. Mol Vis. 2011;17:1734-44 pubmed
    ..The genotypic and allelic distributions of these SNPs are similar between XFS and XFG. ..
  21. Mao C, Pan H, Chen Q, Wang X, Ye D, Qiu L. Association between Fc receptor-like 3 C169T polymorphism and risk of systemic lupus erythematosus: a meta-analysis. Mol Biol Rep. 2010;37:191-6 pubmed publisher
    ..In summary, this meta-analysis demonstrates that the FCRL3 169CC genotype (recessive effect) may confer susceptibility to SLE, especially in Asian-derived population. ..
  22. Ma X, Cai G, Zou W, Huang Y, Zhang J, Wang D, et al. First evidence for the contribution of the genetic variations of BRCA1-interacting protein 1 (BRIP1) to the genetic susceptibility of cervical cancer. Gene. 2013;524:208-13 pubmed publisher
    ..These findings point to a role for the BRIP1 gene polymorphisms in cervical cancer in a Chinese Han population, and may be informative for future genetic or biological studies on cervical cancer. ..
  23. Hu W, Ren H. A meta-analysis of the association of IRF5 polymorphism with systemic lupus erythematosus. Int J Immunogenet. 2011;38:411-7 pubmed publisher
    ..This meta-analysis suggested that IRF5 gene polymorphism was associated with SLE in multiple ethnic populations. ..
  24. Hu M, Zheng J, Zhang L, Jiang L, You Y, Jiang M, et al. The association between -1304T>G polymorphism in the promoter of mitogen-activated protein kinase kinase 4 gene and the risk of cervical cancer in Chinese population. DNA Cell Biol. 2012;31:1167-73 pubmed publisher
  25. Zhang Y, Wang Z, Ma T. Associations of Genetic Polymorphisms Relevant to Metabolic Pathway of Vitamin D3 with Development and Prognosis of Childhood Bronchial Asthma. DNA Cell Biol. 2017;36:682-692 pubmed publisher
  26. Zhang M, Yuan G, Yao J, Qian Y, Zhang X, Huang Y, et al. [Associations between six functional genes and schizophrenia]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003;20:69-71 pubmed
    ..441, 95% CI:0.202-0.963, Z=2.05, P<0.05). The 480 bp allele of DAT1 gene is negatively associated with schizophrenia in Chinese Han population, which stands for the dopamine hypothesis of schizophrenia. ..
  27. Wang L, Zhou J, Zhang B, Wang H, Li M, Niu Q, et al. Association of echocardiographic left ventricular structure and -344C/T aldosterone synthase gene variant: A meta-analysis. J Renin Angiotensin Aldosterone Syst. 2015;16:858-71 pubmed publisher
    ..The present findings support the hypothesis that CC homozygous individuals may have greater left ventricular diameters (LVEDD and LVESD) regardless of their ethnicities or physical conditions. ..
  28. Zhou J, Ding J, Fung W, Lin S. Detection of parent-of-origin effects using general pedigree data. Genet Epidemiol. 2010;34:151-8 pubmed publisher
    ..Application of the proposed methods to a rheumatoid arthritis dataset further demonstrates the advantage of MCPPAT. ..
  29. Sun T, Zhou Y, Li H, Han X, Shi Y, Wang L, et al. FASL -844C polymorphism is associated with increased activation-induced T cell death and risk of cervical cancer. J Exp Med. 2005;202:967-74 pubmed
  30. Tam K, Leung J, Chan L, Lam M, Tang S, Lai K. In vitro enhanced chemotaxis of CD25+ mononuclear cells in patients with familial IgAN through glomerulotubular interactions. Am J Physiol Renal Physiol. 2010;299:F359-68 pubmed publisher
    ..A long-term follow-up is needed to better define the prognostic course for familial IgAN and to clarify the risk of developing IgAN in initially asymptomatic relatives from a multiplex IgAN family. ..
  31. Li D, Wu C, Cai Y, Liu B. Association of NFKB1 and NFKBIA gene polymorphisms with susceptibility of gastric cancer. Tumour Biol. 2017;39:1010428317717107 pubmed publisher
  32. Tang W, Wang L, Li C, Hu Z, Chen R, Zhu Y, et al. Identification and functional characterization of JWA polymorphisms and their association with risk of gastric cancer and esophageal squamous cell carcinoma in a Chinese population. J Toxicol Environ Health A. 2007;70:885-94 pubmed
    ..Further studies are needed to substantiate the biological significance and related mechanisms underlying the associations. ..
  33. So H, Gui A, Cherny S, Sham P. Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases. Genet Epidemiol. 2011;35:310-7 pubmed publisher
    ..Programs to implement the methodologies described in this paper are available at http://sites.google.com/site/honcheongso/software/varexp. ..
  34. Wei B, Xu Z, Zhou Y, Ruan J, Cheng H, Xi B, et al. Association of GSTM1 null allele with prostate cancer risk: evidence from 36 case-control studies. PLoS ONE. 2012;7:e46982 pubmed publisher
    ..12, 95% CI: 0.96-1.31, P?=?0.16). In addition, we did not find that smoking modified the genotype effect on the risk of PCa. The present meta-analysis suggested that GSTM1 null allele was a low-penetrant risk factor for PCa among Asians. ..
  35. Li M, Wu D, Yao Y, Huo Y, Liu J, Su B, et al. Recent Positive Selection Drives the Expansion of a Schizophrenia Risk Nonsynonymous Variant at SLC39A8 in Europeans. Schizophr Bull. 2016;42:178-90 pubmed publisher
  36. Shan Y, Shen N, Han L, Chen Q, Zhang J, Long X, et al. MicroRNA-499 Rs3746444 polymorphism and biliary atresia. Dig Liver Dis. 2016;48:423-8 pubmed publisher
    ..37; 95% CI, 1.08-1.83). MiR-499 (rs3746444) gene polymorphisms may be genetic determinants for increased risk of BA and prolonged recovery of BA patients after liver transplantation in Han Chinese. ..
  37. Li H, Liu F, Zhu H, Zhou X, Lu J, Chang H, et al. PIK3CA polymorphisms associated with susceptibility to hepatocellular carcinoma. Int J Clin Exp Pathol. 2015;8:15255-9 pubmed
    ..030), which suggested that G-T might be a susceptible haplotype to HCC. The PIK3CA rs17849071 and rs17849079 polymorphisms may increase the risk of HCC either independently or synergistically. ..
  38. Wang L, Shen C, Yang S, Chen Y, Guo D, Jin Y, et al. Association study of NOS3 gene polymorphisms and hypertension in the Han Chinese population. Nitric Oxide. 2015;51:1-6 pubmed publisher
    ..Age and gender might modify the genetic effect of NOS3 on HT, and drinking significantly interacts with rs3918186. ..
  39. Wang L, Duan C, Gao Y, Xu W, Ding J, Liu V, et al. Lack of association between TOR1A and THAP1 mutations and sporadic adult-onset primary focal dystonia in a Chinese population. Clin Neurol Neurosurg. 2016;142:26-30 pubmed publisher
    ..05). This result was confirmed by pooled analysis of multi-ethnic groups. Our study suggested that there might not be an association between TOR1A or THAP1 and patients with AOPFD. ..
  40. Zhang H, Li X, Zhou L, Zhang K, Zhang Q, Li J, et al. A novel haplotype of low-frequency variants in the aldosterone synthase gene among northern Han Chinese with essential hypertension. Medicine (Baltimore). 2017;96:e8150 pubmed publisher
    ..000495). All |D'| values of the seven SNPs were >0.9, and r values for rs28659182- rs10087214-rs28491316-rs7463212 SNPs were >0.8 and showed strong linkage intensity. Haplotype T-G-T may therefore be a useful genetic marker for EH. ..
  41. Yau W, Lung H, Zabarovsky E, Lerman M, Sham J, Chua D, et al. Functional studies of the chromosome 3p21.3 candidate tumor suppressor gene BLU/ZMYND10 in nasopharyngeal carcinoma. Int J Cancer. 2006;119:2821-6 pubmed
    ..This study provides the first significant evidence to demonstrate BLU/ZMYND10 can functionally suppress tumor formation in vivo and is, therefore, likely to be one of the candidate tumor suppressor genes involved in NPC. ..
  42. Wang Q, Hu X, Li S, Wang X, Wang J, Zhang R, et al. Association of the angiotensinogen M235T polymorphism with recurrence after catheter ablation of acquired atrial fibrillation. J Renin Angiotensin Aldosterone Syst. 2015;16:888-97 pubmed publisher
    ..These strategies may differ and should be individualized according to patients' genotype. Future studies are warranted to validate the potential effect of AGT M235T on AF recurrence post CA. ..
  43. Deng Y, Hou D, Tian M, Li W, Feng X, Yu Z. Relationship between the gene polymorphisms of kallikrein-kinin system and Alzheimer's disease in a Hunan Han Chinese population. Int J Clin Exp Pathol. 2015;8:15550-62 pubmed
    ..The polymorphisms of rs4309 may be related to LOAD, as well as ATA, ACA, and TCA haplotype composed of rs4291/rs4309/rs4343. ..
  44. Wang R, Zhou D, Xi B, Ge X, Zhu P, Wang B, et al. ENPP1/PC-1 gene K121Q polymorphism is associated with obesity in European adult populations: evidence from a meta-analysis involving 24,324 subjects. Biomed Environ Sci. 2011;24:200-6 pubmed publisher
  45. Liu C, Wang G, Liu H, Li Y, Li J, Dai Y, et al. CD226 Gly307Ser association with neuromyelitis optica in Southern Han Chinese. Can J Neurol Sci. 2012;39:488-90 pubmed
    ..The results strongly support that the TT genotypes are associated with NMO but are not significantly correlated with susceptibility for MS. CD226 Gly307Ser may correlate with risk of NMO in Southern Han Chinese. ..
  46. Yuan Y, Qi C, Maling G, Xiang W, Yanhui L, Ruofei L, et al. TERT mutation in glioma: Frequency, prognosis and risk. J Clin Neurosci. 2016;26:57-62 pubmed publisher
    ..28, 95% CI 1.23-1.33). Our study shows that the TERT gene is a valuable prognostic and predictive biomarker of glioma, and TERT gene polymorphisms are significantly associated with an increased risk of glioma. ..
  47. Jiang Z, Tang X, Zhao Y, Zheng L. A functional variant at miR-34a binding site in toll-like receptor 4 gene alters susceptibility to hepatocellular carcinoma in a Chinese Han population. Tumour Biol. 2014;35:12345-52 pubmed publisher
    ..miR-34a/TLR4 axis may play an important role in the development of hepatocellular carcinoma. ..
  48. Luo J, Li S, Qin X, Peng Q, Liu Y, Yang S, et al. Association of the NQO1 C609T polymorphism with Alzheimer's disease in Chinese populations: a meta-analysis. Int J Neurosci. 2016;126:199-204 pubmed publisher
    ..In conclusion, our results showed that NQO1 C609T polymorphism increases the risk of AD in Chinese populations. Larger studies with different ethnic populations are required to validate our findings. ..
  49. Ma L, Liu H, Ruan L, Feng Y. CYP3A5 ∗ 3 genetic polymorphism is associated with childhood acute lymphoblastic leukemia risk: A meta-analysis. Biomed J. 2015;38:428-32 pubmed publisher
    ..No significant publication bias was detected by funnel plot. The current meta-analysis showed that there was association between CYP3A5 FNx01 3 polymorphism and the altered risk of ALL in children, especially in Caucasian populations. ..
  50. Li Y, Li S, Zhai Q, Hai J, Wang D, Cao M, et al. Association of GSTs polymorphisms with risk of gestational diabetes mellitus. Int J Clin Exp Pathol. 2015;8:15191-7 pubmed
    ..In conclusion, we suggest that the GSTM1 null genotype and GSTT1 null genotype are correlated with an increased risk of gestational diabetes mellitus in a Chinese population. ..
  51. Wang Z, Xu Y, Zhu S. Interleukin-16 rs4778889 polymorphism contributes to the development of renal cell cancer in a Chinese population. Int J Clin Exp Pathol. 2015;8:15228-33 pubmed
    ..44, 95% CI = 1.01-6.00) and diabetes (OR = 6.91, 95% CI = 1.44-37.05) in the risk of RCC. In conclusion, the results of our study suggested an association between the IL-16 rs4778889 polymorphism and an elevated risk of RCC. ..
  52. Wang K, Zhao X, Du Y, He F, Peng G, Luo B. Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation. Brain Dev. 2013;35:664-6 pubmed publisher
    ..In addition, an unusual exercise trigger observed in the proband, likely representing an underestimated occurrence, together with the current clinical PD classification is also elucidated. ..
  53. Chen Y, Song W, Huang R, Chen K, Zhao B, Li J, et al. GAK rs1564282 and DGKQ rs11248060 increase the risk for Parkinson's disease in a Chinese population. J Clin Neurosci. 2013;20:880-3 pubmed publisher
    ..GAK rs1564282 and DGKQ rs11248060 increase the risk for PD in Chinese patients. More related studies with a larger number of participants are needed to confirm these findings. ..
  54. Zhang L, Yuan B, Li H, Tao S, Yan H, Chang L, et al. Associations of genetic polymorphisms of SAA1 with cerebral infarction. Lipids Health Dis. 2013;12:130 pubmed publisher
    ..01, OR = 2.106, 95% CI: 1.811-7.121). Genetic polymorphism of SAA1 may be a genetic maker of cerebral infarction in Chinese. ..
  55. Hou Y, Chen J, Gao M, Zhou F, Du W, Shen Y, et al. Five novel mutations of RNA-specific adenosine deaminase gene with dyschromatosis symmetrica hereditaria. Acta Derm Venereol. 2007;87:18-21 pubmed
    ..The tRNA-specific and double-stranded RNA adenosine deaminase domain is essential for the deaminase activity of the ADAR encoded protein. ..
  56. Yang H, Zhou Q, Chen Z, Chen W, Wang M, Chen J. Polymorphisms in STAT4 increase the risk of acute renal allograft rejection in the Chinese population. Transpl Immunol. 2011;24:216-9 pubmed publisher
    ..049, two-tailed ?(2); OR=0.466, 95% CI=0.216-1.003). Thus, our data suggest that the rs7574865 STAT4 SNP is a genetic susceptibility variant for acute renal allograft rejection in the Chinese population. ..
  57. Zhang C, Li J, Lv G, Yu X, Gu Y, Zhou P. Lack of association of SULT1A1 R213H polymorphism with colorectal cancer: a meta-analysis. PLoS ONE. 2011;6:e19127 pubmed publisher
    ..78-1.56, P?=?0.57; HH versus RR: OR?=?1.09, 95%CI?=?0.83-1.44, P?=?0.53; HR versus RR: OR?=?1.02, 95%CI?=?0.92-1.13, P?=?0.75). This meta-analysis demonstrates that there is no association between the SULT1A1 R213H polymorphism and CRC. ..
  58. Han X, Xing Q, Li Y, Sun J, Ji H, Huazheng P, et al. Study on the DNA repair gene XRCC1 and XRCC3 polymorphism in prediction and prognosis of hepatocellular carcinoma risk. Hepatogastroenterology. 2012;59:2285-9 pubmed
    ..98, 95% CI=1.77-7.54). In conclusion, we observed that XRCC1-Arg399Gln and XRCC3-Thr241Met polymorphism is associated with susceptibility to HCC and XRCC1 Gin allele and XRCC3 Met allele genotype showed significant poor prognosis of HCC. ..
  59. Niu X, Yang H, Zhang H, Li N, Qi X, Chang Y, et al. [Study on association between gestational diabetes mellitus and sulfonylurea receptor-1 gene polymorphism]. Zhonghua Fu Chan Ke Za Zhi. 2005;40:159-63 pubmed
  60. Cui Z, Sun S, Zhang Z, Meng S. Simultaneous endemic infections with subgroup J avian leukosis virus and reticuloendotheliosis virus in commercial and local breeds of chickens. Avian Pathol. 2009;38:443-8 pubmed publisher
    ..This unprecedented concurrence of simultaneous endemic infections with ALV-J and REV may have serious economic consequences and needs to be better understood...
  61. Zhu M, Yap M, Ho D, Fung W, Ng P, Gu Y, et al. Investigating the relationship between UMODL1 gene polymorphisms and high myopia: a case-control study in Chinese. BMC Med Genet. 2012;13:64 pubmed publisher
    ..0460). Common UMODL1 polymorphisms were unlikely to be important in the genetic susceptibility to high myopia in Han Chinese. ..
  62. Li B, Li J, Xiao X, Ma Y, Wang J, Liang X, et al. Altered DNA methylation patterns of the H19 differentially methylated region and the DAZL gene promoter are associated with defective human sperm. PLoS ONE. 2013;8:e71215 pubmed publisher
    ..Therefore, abnormal DNA methylation status of H19-DMR, especially at the CTCF-binding site 6, is closely associated with OZ. Abnormal DNA methylation of the DAZL promoter might represent an epigenetic marker of male infertility. ..
  63. Peng Z, Lv X, Sun Y, Dai S. Association of Interleukin-10-1082A/G Polymorphism with Idiopathic Recurrent Miscarriage: A Systematic Review and Meta-Analysis. Am J Reprod Immunol. 2016;75:162-71 pubmed publisher
    ..The meta-analysis of 13 eligible studies suggested a recessive effect of the G allele (-1082A/G polymorphism) for IRM risk. The pooled evidence demonstrated that the GG genotype increased IRM risk. ..
  64. Lu J, Gu H, Tang Q, Wu W, Yuan B, Guo D, et al. Common SNP in hsa-miR-196a-2 increases hsa-miR-196a-5p expression and predisposes to idiopathic male infertility in Chinese Han population. Sci Rep. 2016;6:19825 pubmed publisher
    ..Our data revealed a significant relationship between hsa-miR-196a-2 polymorphism and idiopathic male infertility. ..
  65. Zhang Y, Sun Z, Liu J, Guo X. Advances in susceptibility genetics of intervertebral degenerative disc disease. Int J Biol Sci. 2008;4:283-90 pubmed
    ..For the purpose of this review, we have limited our discussion to several susceptibility genes associated with disc degeneration. ..
  66. Zhang S, Wang C, Xi B, Li X. Association between the tumour necrosis factor-?-308G/A polymorphism and chronic obstructive pulmonary disease: an update. Respirology. 2011;16:107-15 pubmed publisher
    ..Further studies are necessary to evaluate the relationship between TNF-? polymorphisms and the risk of COPD. ..
  67. Liu S, Yu H, Liu Y, Liu X, Zhang Y, Bu C, et al. Chromodomain Protein CDYL Acts as a Crotonyl-CoA Hydratase to Regulate Histone Crotonylation and Spermatogenesis. Mol Cell. 2017;67:853-866.e5 pubmed publisher
  68. Fu D, Li P, Cheng W, Tian F, Xu X, Yi X, et al. Impact of vascular endothelial growth factor gene-gene and gene-smoking interaction and haplotype combination on bladder cancer risk in Chinese population. Oncotarget. 2017;8:22927-22935 pubmed publisher
  69. Zhang J, Zhang X, Fu J, Bi Z, Arheart K, Barreiro L, et al. Protective role of DC-SIGN (CD209) neck-region alleles with <5 repeat units in HIV-1 transmission. J Infect Dis. 2008;198:68-71 pubmed publisher
    ..These naturally occurring DC-SIGN neck-region variants were significantly more frequent in the Chinese population than in the US population (P <.001) and in a worldwide population (P=.006). ..
  70. Chen D, Zeng Y, Zhou J, Yang L, Jiang S, Huang J, et al. Association of candidate susceptible loci with chronic infection with hepatitis B virus in a Chinese population. J Med Virol. 2010;82:371-8 pubmed publisher
    ..001). The results indicate that genetic determinants may affect the outcome of HBV infection in both independent and synergic manners. J. Med. Virol. 82:371-378, 2010. (c) 2010 Wiley-Liss, Inc. ..
  71. Zhang J, Song T, Liang H, Lian J, Zhang G, Gong H. Interleukin-18 -137 G/C and -607 C/A polymorphisms and Alzheimer's disease risk: a meta-analysis. Neurol Sci. 2016;37:921-7 pubmed publisher
    ..Further well-designed case-control studies with larger sample size and more ethnic groups are needed to confirm these conclusions. ..
  72. Wang J, Zheng Y, Sun L, Wang L, Yu P, Li H, et al. CYP1A1 Ile462Val polymorphism and susceptibility to lung cancer: a meta-analysis based on 32 studies. Eur J Cancer Prev. 2011;20:445-52 pubmed publisher
    ..In subgroup analyses by histology, the result is not reliable. In conclusion, this meta-analysis suggests that the CYP1A1 IleVal polymorphism might play a modest role in susceptibility to lung cancer, especially in Asians. ..
  73. Tso H, Lau Y, Tam C, Wong H, Chiang A. Associations between IL12B polymorphisms and tuberculosis in the Hong Kong Chinese population. J Infect Dis. 2004;190:913-9 pubmed
    ..In contrast, diplotype II (homozygous BB haplotypes) appeared protective against TB. These findings support the association between IL12B intron 2 polymorphism and TB and between specific IL12B haplotypes and TB. ..
  74. Li D, Jing X, Wang H, Ye W, Fan H. [Study of correlationship between congenital heart disease and 5, 10-methylenetetra hydrofolate reductase gene's polymorphism or folacin intakes]. Zhonghua Yu Fang Yi Xue Za Zhi. 2009;43:700-4 pubmed
    ..There is interaction between folacin intakes and the MTHFR 677TT genotype. Increasing the intakes of folacin among MTHFR 677TT genotype people might decrease the incidence rate of congenital heart disease. ..
  75. Qian Y, Zhang J, Dong J, Wang F, Lin Y, Xu M, et al. [Relationship between polymorphisms of X-ray repair cross-complementing group 1 gene Arg194Trp, Arg399Gln and susceptibility of breast cancer]. Zhonghua Yu Fang Yi Xue Za Zhi. 2010;44:242-6 pubmed
    ..The overall ORs (95%CIs) of 399 Arg/Trp + Trp/Trp vs Arg/Arg from Meta analysis was 0.97 (0.85 - 1.10). The XRCC1 Arg194Trp and Arg399Gln may not play an important role in the susceptibility of breast cancer in Chinese women. ..
  76. Peng X, Huang Y, Ma H, Gu L, Xie Q, Gao Z. Interleukin-10 promoter polymorphisms are associated with the mode and sequel of HBeAg seroconversion in patients with chronic hepatitis B virus infection. Liver Int. 2006;26:326-33 pubmed
    ..0023 and 0.0061) and silent sequel after HBeAg seroconversion (P=0.0009 and 0.001). IL-10 gene promoter polymorphisms significantly influence the mode and sequel of HBeAg seroconversion in patients with chronic HBV infection. ..
  77. Liu D, Zhang Y, Hu B, Zhang J, Zhao Q. Association of AT1R polymorphism with hypertension risk: An update meta-analysis based on 28,952 subjects. J Renin Angiotensin Aldosterone Syst. 2015;16:898-909 pubmed publisher
    ..We did not find any association in African populations. This meta-analysis suggests that A1166C polymorphism in the AT1R gene is associated with the risk of hypertension in Asian and Caucasian populations. ..
  78. Zhao R, Chen G. Role of GSTP1 Ile105Val and XRCC1 Arg194Trp, Arg280His and Arg399Gln gene polymorphisms in the clinical outcome of advanced non-small cell lung cancer. Int J Clin Exp Pathol. 2015;8:14909-16 pubmed
    ..19, 95% CI=0.05-0.61). In conclusion, we found that the GSTP1 Ile105Val and XRCC1 Arg194Trp were associated with better response to chemotherapy and longer survival of advanced NSCLC, compared to the wide-type genotype. ..
  79. Qian Q, Liu R, Lei Z, You J, Zhou Q, Zhang H. [Meta analysis of association between Ser326Cys polymorphism of hOGG1 gene and risk of lung cancer]. Zhongguo Fei Ai Za Zhi. 2011;14:205-10 pubmed publisher
    ..28, 95%CI: 1.11-1.49; OR=1.26, 95%CI: 1.09-1.46). The present study indicates that the hOGG1 Ser326Cys polymorphism is associated with risk of lung cancer, Cys326 genotype can significantly increase risk of lung cancer. ..
  80. Li M, Luo X, Xiao X, Shi L, Liu X, Yin L, et al. Allelic differences between Han Chinese and Europeans for functional variants in ZNF804A and their association with schizophrenia. Am J Psychiatry. 2011;168:1318-25 pubmed publisher
    ..Our results suggest that ZNF804A is a common risk gene for schizophrenia in world populations and that the newly identified functional SNP (rs359895) is likely a risk SNP for schizophrenia. ..
  81. Tang L, Xu J, Wei F, Wang L, Nie W, Chen L, et al. Association of STXBP4/COX11 rs6504950 (G>A) polymorphism with breast cancer risk: evidence from 17,960 cases and 22,713 controls. Arch Med Res. 2012;43:383-8 pubmed publisher
    ..87, 95% CI = 0.83-0.90; the dominant model OR = 0.92, 95% CI = 0.88-0.96). This meta-analysis indicated that the rs6504950 AA/AG genotypes are associated with a significantly decreased risk of breast carcinogenesis. ..
  82. Mu J, Ge W, Zuo X, Chen Y, Huang C. Analysis of association between IL-1?, CASP-9, and GDF5 variants and low-back pain in Chinese male soldier: clinical article. J Neurosurg Spine. 2013;19:243-7 pubmed publisher
    ..001). The findings in a Chinese military cohort indicated that CASP-9 (-1263A/G) and GDF5 (+104T/C) polymorphisms are associated with a susceptibility to LBP related to military training. ..
  83. Wan J, Huang M, Zhao H, Wang C, Zhao X, Jiang X, et al. A novel tetranucleotide repeat polymorphism within KCNQ1OT1 confers risk for hepatocellular carcinoma. DNA Cell Biol. 2013;32:628-34 pubmed publisher
    ..The replication of our studies and further functional studies are needed to validate our hypothesis and understand the roles of KCNQ1OT1 polymorphisms in predisposition for HCC. ..
  84. Liu C, Xu X, Zhou Y. Association between EGFR polymorphisms and the risk of lung cancer. Int J Clin Exp Pathol. 2015;8:15245-9 pubmed
    ..GG: OR=7.20, 95% CI=1.33-39.07; A vs. G: OR=2.61, 95% CI=1.04-6.59). The EGFR rs6965469 and rs763317 polymorphisms may be risk factors for lung cancer. ..
  85. Dai Z, Zhang T, Lin S, Zhang W, Liu J, Cao X, et al. Role of IL-17A rs2275913 and IL-17F rs763780 polymorphisms in risk of cancer development: an updated meta-analysis. Sci Rep. 2016;6:20439 pubmed publisher
    ..This updated meta-analysis confirms that rs2275913 and rs763780 polymorphisms are highly associated with increased risk for multiple forms of cancer. ..
  86. Chong W, Ip W, Tso G, Ng M, Wong W, Law H, et al. The interferon gamma gene polymorphism +874 A/T is associated with severe acute respiratory syndrome. BMC Infect Dis. 2006;6:82 pubmed
    ..35-4.88) increased risk of developing SARS respectively. The polymorphisms of IL-10 and TNF-alpha were not associated with SARS susceptibility. IFN-gamma +874A allele was shown to be a risk factor in SARS susceptibility. ..
  87. Yang B, Zhuang B, Li F, Zhang C, Song A. [The relationship between monocyte chemoattractant protein-1 gene polymorphisms and the susceptibility to pulmonary tuberculosis]. Zhonghua Jie He He Hu Xi Za Zhi. 2009;32:454-6 pubmed
    ..To explore the possible relationship between the -2518 A/G single nucleotide polymorphisms in monocyte chemoattractant protein-1 (MCP-1) gene of Chinese Han population and the susceptibility to pulmonary tuberculosis...
  88. Wang W, Qiu Y, Ji F, Liu J, Wu F, Miao W, et al. Genetic polymorphisms in metabolizing enzymes and susceptibility of chromosomal damage induced by vinyl chloride monomer in a Chinese worker population. J Occup Environ Med. 2010;52:163-8 pubmed publisher
    ..05). Polymorphisms of GSTP1G/A and CYP2E1G/C, which are potential susceptibility biomarkers of chromosomal damage in VCM-exposed worker. ..
  89. Zhu J, Zuo J, Xu Q, Wang X, Wang Z, Zhou D. Isocitrate dehydrogenase mutations may be a protective mechanism in glioma patients. Med Hypotheses. 2011;76:602-3 pubmed publisher
  90. Guan F, Zhang C, Wei S, Zhang H, Gong X, Feng J, et al. Association of PDE4B polymorphisms and schizophrenia in Northwestern Han Chinese. Hum Genet. 2012;131:1047-56 pubmed publisher
    ..Our results provide further evidence that PDE4B may play important roles in the etiology of SCZ. ..
  91. Huang Y, Yi X, Jian Z, Wei C, Li S, Cai C, et al. A single-nucleotide polymorphism of miR-196a-2 and vitiligo: an association study and functional analysis in a Han Chinese population. Pigment Cell Melanoma Res. 2013;26:338-47 pubmed publisher
  92. Yang X, Gao F, Ma F, Ren Y, Chen H, Liang X, et al. Association of the functional BCL-2 rs2279115 genetic variant and small cell lung cancer. Tumour Biol. 2016;37:1693-8 pubmed publisher
    ..Our results indicate that the BCL-2 rs2279115 genetic variant was associated with SCLC risk in Chinese populations and support the hypothesis that SNPs in regulatory regions of oncogenes might contribute to cancer susceptibility. ..