genetic association studies

Summary

Summary: The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.

Top Publications

  1. Munafo M. Reliability and replicability of genetic association studies. Addiction. 2009;104:1439-40 pubmed publisher
  2. Stevens A, Meyer S, Hanson D, Clayton P, Donn R. Network analysis identifies protein clusters of functional importance in juvenile idiopathic arthritis. Arthritis Res Ther. 2014;16:R109 pubmed publisher
  3. Zarkov M, Stojadinović A, Sekulić S, Barjaktarović I, Perić S, Keković G, et al. Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene. Vojnosanit Pregl. 2015;72:859-63 pubmed
    ..05). In the Serbian patients with SMA, a higher SMN2 gene copy number correlated with less severe disease phenotype. A possible effect of other phenotype modifiers should not be neglected. ..
  4. Wang B, Wang S, Liang G, Xu J, Zhou R, Zhang Q. Association of lysosomal protein transmembrane 4 beta gene polymorphism with pancreatic carcinoma susceptibility in the Chinese population. Tumour Biol. 2017;39:1010428317705518 pubmed publisher
    ..These findings indicate that the LAPTM4B*2 allele is associated with the high risk of pancreatic carcinoma and carrying LAPTM4B*2 may be a susceptible factor to Chinese pancreatic carcinoma patients. ..
  5. van Roosmalen W, Le Dévédec S, Golani O, Smid M, Pulyakhina I, Timmermans A, et al. Tumor cell migration screen identifies SRPK1 as breast cancer metastasis determinant. J Clin Invest. 2015;125:1648-64 pubmed publisher
    ..Our study provides comprehensive information on the molecular determinants of tumor cell migration and suggests that SRPK1 has potential as a drug target for limiting breast cancer metastasis. ..
  6. Li H, Reksten T, Ice J, Kelly J, Adrianto I, Rasmussen A, et al. Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons. PLoS Genet. 2017;13:e1006820 pubmed publisher
    ..Our results establish OAS1 as a risk locus for SS and support a potential role for defective viral clearance due to altered IFN response as a genetic pathophysiological basis of this complex autoimmune disease. ..
  7. Liu B, Wei J, Li M, Jiang J, Zhang H, Yang L, et al. Association of common genetic variants in VEGFA with biliary atresia susceptibility in Northwestern Han Chinese. Gene. 2017;628:87-92 pubmed publisher
    ..Our results indicate additional evidence supporting that there is an important role of the VEGFA gene in the increased susceptibility of BA. ..
  8. Boronat S, Thiele E, Caruso P. Cerebellar lesions are associated with TSC2 mutations in tuberous sclerosis complex: a retrospective record review study. Dev Med Child Neurol. 2017;59:1071-1076 pubmed publisher
    ..New studies are needed to assess the clinical significance of these lesions. ..
  9. Huang C, Chang K, Hung C, Chiu K, Lu S, Wang J, et al. Impact of PNPLA3 and IFNL3 polymorphisms on hepatic steatosis in Asian patients with chronic hepatitis C. PLoS ONE. 2017;12:e0182204 pubmed publisher
    ..93, 95% CI: 1.35-2.77, P = 0.003). The PNPLA3 rs738409 GG genotype is positively associated with HS, while the IFNL3 rs 12979860 CC genotype may be negatively associated with HS, in Asian CHC patients. ..
  10. Zhang L, Kim S, Jia G, Buhmeida A, Dallol A, Wright W, et al. Exome Sequencing of Normal and Isogenic Transformed Human Colonic Epithelial Cells (HCECs) Reveals Novel Genes Potentially Involved in the Early Stages of Colorectal Tumorigenesis. BMC Genomics. 2015;16 Suppl 1:S8 pubmed publisher
    ..Exome sequencing reveals a collection of novel genes that may play important roles in CRC tumorigenesis. ..

Detail Information

Publications112 found, 100 shown here

  1. Munafo M. Reliability and replicability of genetic association studies. Addiction. 2009;104:1439-40 pubmed publisher
  2. Stevens A, Meyer S, Hanson D, Clayton P, Donn R. Network analysis identifies protein clusters of functional importance in juvenile idiopathic arthritis. Arthritis Res Ther. 2014;16:R109 pubmed publisher
  3. Zarkov M, Stojadinović A, Sekulić S, Barjaktarović I, Perić S, Keković G, et al. Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene. Vojnosanit Pregl. 2015;72:859-63 pubmed
    ..05). In the Serbian patients with SMA, a higher SMN2 gene copy number correlated with less severe disease phenotype. A possible effect of other phenotype modifiers should not be neglected. ..
  4. Wang B, Wang S, Liang G, Xu J, Zhou R, Zhang Q. Association of lysosomal protein transmembrane 4 beta gene polymorphism with pancreatic carcinoma susceptibility in the Chinese population. Tumour Biol. 2017;39:1010428317705518 pubmed publisher
    ..These findings indicate that the LAPTM4B*2 allele is associated with the high risk of pancreatic carcinoma and carrying LAPTM4B*2 may be a susceptible factor to Chinese pancreatic carcinoma patients. ..
  5. van Roosmalen W, Le Dévédec S, Golani O, Smid M, Pulyakhina I, Timmermans A, et al. Tumor cell migration screen identifies SRPK1 as breast cancer metastasis determinant. J Clin Invest. 2015;125:1648-64 pubmed publisher
    ..Our study provides comprehensive information on the molecular determinants of tumor cell migration and suggests that SRPK1 has potential as a drug target for limiting breast cancer metastasis. ..
  6. Li H, Reksten T, Ice J, Kelly J, Adrianto I, Rasmussen A, et al. Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons. PLoS Genet. 2017;13:e1006820 pubmed publisher
    ..Our results establish OAS1 as a risk locus for SS and support a potential role for defective viral clearance due to altered IFN response as a genetic pathophysiological basis of this complex autoimmune disease. ..
  7. Liu B, Wei J, Li M, Jiang J, Zhang H, Yang L, et al. Association of common genetic variants in VEGFA with biliary atresia susceptibility in Northwestern Han Chinese. Gene. 2017;628:87-92 pubmed publisher
    ..Our results indicate additional evidence supporting that there is an important role of the VEGFA gene in the increased susceptibility of BA. ..
  8. Boronat S, Thiele E, Caruso P. Cerebellar lesions are associated with TSC2 mutations in tuberous sclerosis complex: a retrospective record review study. Dev Med Child Neurol. 2017;59:1071-1076 pubmed publisher
    ..New studies are needed to assess the clinical significance of these lesions. ..
  9. Huang C, Chang K, Hung C, Chiu K, Lu S, Wang J, et al. Impact of PNPLA3 and IFNL3 polymorphisms on hepatic steatosis in Asian patients with chronic hepatitis C. PLoS ONE. 2017;12:e0182204 pubmed publisher
    ..93, 95% CI: 1.35-2.77, P = 0.003). The PNPLA3 rs738409 GG genotype is positively associated with HS, while the IFNL3 rs 12979860 CC genotype may be negatively associated with HS, in Asian CHC patients. ..
  10. Zhang L, Kim S, Jia G, Buhmeida A, Dallol A, Wright W, et al. Exome Sequencing of Normal and Isogenic Transformed Human Colonic Epithelial Cells (HCECs) Reveals Novel Genes Potentially Involved in the Early Stages of Colorectal Tumorigenesis. BMC Genomics. 2015;16 Suppl 1:S8 pubmed publisher
    ..Exome sequencing reveals a collection of novel genes that may play important roles in CRC tumorigenesis. ..
  11. Ramakrishnan V, Akram Husain R, Ahmed S. Genetic predisposition of IL-10 promoter polymorphisms with risk of multiple sclerosis: A meta-analysis. J Neuroimmunol. 2017;306:11-18 pubmed publisher
    ..Overall, our results demonstrated that rs1800896, rs1800871 and rs1800872 polymorphisms may not be the risk factor for the development of MS in both the populations. ..
  12. Eusebi P, González Prendes R, Quintanilla R, Tibau J, Cardoso T, Clop A, et al. A genome-wide association analysis for carcass traits in a commercial Duroc pig population. Anim Genet. 2017;48:466-469 pubmed publisher
    ..Sequencing of these candidate genes may help to uncover the causal mutations responsible for the associations found in the present study. ..
  13. van der Zee J, Van Broeckhoven C. Dementia in 2013: frontotemporal lobar degeneration-building on breakthroughs. Nat Rev Neurol. 2014;10:70-2 pubmed publisher
  14. Rybakowski J, Dmitrzak Weglar M, Kliwicki S, Hauser J. Polymorphism of circadian clock genes and prophylactic lithium response. Bipolar Disord. 2014;16:151-8 pubmed
    ..Of special interest may be polymorphisms of these genes involved both in the predisposition to bipolar mood disorder and the lithium response. ..
  15. Jong V, Novianti P, Roes K, Eijkemans M. Exploring homogeneity of correlation structures of gene expression datasets within and between etiological disease categories. Stat Appl Genet Mol Biol. 2014;13:717-32 pubmed publisher
  16. Snit M, Nabrdalik K, Długaszek M, Gumprecht J, Trautsolt W, Gorczynska Kosiorz S, et al. Association of rs 3807337 polymorphism of CALD1 gene with diabetic nephropathy occurrence in type 1 diabetes - preliminary results of a family-based study. Endokrynol Pol. 2017;68:13-17 pubmed publisher
    ..Endokrynol Pol 2017; 68 (1): 13-17). ..
  17. Walker L, Pearson J, Wiggins G, Giles G, Hopper J, Southey M. Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry. Breast Cancer Res. 2017;19:30 pubmed publisher
    ..02 and P?=?0.03, respectively). These results suggest rare CNVs might have a role in breast cancer susceptibility, at least for disease at a young age. ..
  18. Amano N, Narumi S, Hayashi M, Takagi M, Imai K, Nakamura T, et al. Genetic defects in pediatric-onset adrenal insufficiency in Japan. Eur J Endocrinol. 2017;177:187-194 pubmed publisher
    ..Molecular testing is a rational approach to diagnosis in biochemically uncharacterized PAI patients. ..
  19. Habibi M, Mirfakhraie R, Khani M, Rakhshan A, Azargashb E, Pouresmaeili F. Genetic variations in UGT2B28, UGT2B17, UGT2B15 genes and the risk of prostate cancer: A case-control study. Gene. 2017;634:47-52 pubmed publisher
    ..To our knowledge, this is the first report that implicates the role of CNV of UGT2B17 gene in BPH. ..
  20. Guo B, Defaveri J, Sotelo G, Nair A, Merilä J. Population genomic evidence for adaptive differentiation in Baltic Sea three-spined sticklebacks. BMC Biol. 2015;13:19 pubmed publisher
    ..Taken together, our results provide strong evidence for heterogenic genomic divergence driven by local adaptation in the face of gene flow along an environmental gradient in the post-glacially formed Baltic Sea. ..
  21. Davison L, Holder A, Catchpole B, O Callaghan C. The Canine POMC Gene, Obesity in Labrador Retrievers and Susceptibility to Diabetes Mellitus. J Vet Intern Med. 2017;31:343-348 pubmed publisher
    ..31). This study adds to the existing scientific literature indicating that there is little evidence for a direct link between obesity and DM in dogs. ..
  22. Akulenko L, Kasyan G, Kozlova Y, Tupikina N, Vishnevsky D, Pushkar D. [Female pelvic floor dysfunction from the perspectives of genetic studies]. Urologiia. 2017;:76-81 pubmed
    ..The systematic accumulation of data, their reproduction in different populations and ethnic groups is necessary to further generalize the evidence on the pathogenesis and the functional significance of each gene variant. ..
  23. Yang Y, Zhang L, Li S, Zhu X, Sundaresan P. Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma. Genet Test Mol Biomarkers. 2017;21:252-258 pubmed publisher
    ..2421G>A, p.W807X) in LTBP2 in eight Indian families. Among the five mutations identified, G466V in CYP1B1 and W807X in LTBP2 represent novel mutations. Our study expands the mutational spectrum of PCG in the Indian population. ..
  24. Matzaraki V, Kumar V, Wijmenga C, Zhernakova A. The MHC locus and genetic susceptibility to autoimmune and infectious diseases. Genome Biol. 2017;18:76 pubmed publisher
    ..Further work in this area will help to distinguish between alternative hypotheses for the role of pathogens in autoimmune disease development. ..
  25. Sugiura K. Autoinflammatory diseases in dermatology: DITRA and CAMPS. Nihon Rinsho Meneki Gakkai Kaishi. 2017;40:169-173 pubmed publisher
    ..GPP without PsV and PRP type V are representative diseases of DITRA and CAMPS, respectively. ..
  26. Schneiderman I, Kanat Maymon Y, Ebstein R, Feldman R. Cumulative risk on the oxytocin receptor gene (OXTR) underpins empathic communication difficulties at the first stages of romantic love. Soc Cogn Affect Neurosci. 2014;9:1524-9 pubmed publisher
  27. Jin M, Gu S, Ye D, Li Y, Jing F, Li Q, et al. Association between genetic variants in the promoter region of a novel antisense long noncoding RNA RP11-392P7.6 and colorectal cancer risk. Environ Mol Mutagen. 2017;58:434-442 pubmed publisher
    ..Environ. Mol. Mutagen. 58:434-442, 2017. © 2017 Wiley Periodicals, Inc. ..
  28. Poon A, Chouiali F, Tse S, Litonjua A, Hussain S, Baglole C, et al. Genetic and histologic evidence for autophagy in asthma pathogenesis. J Allergy Clin Immunol. 2012;129:569-71 pubmed publisher
  29. Wang J, Xiang J, Wu L, Bai Y, Chen Z, Yin X, et al. A genetic variant in long non-coding RNA MALAT1 associated with survival outcome among patients with advanced lung adenocarcinoma: a survival cohort analysis. BMC Cancer. 2017;17:167 pubmed publisher
    ..However, these results need to be validated in larger populations of lung cancer and the biological function of this variant still warrants further investigation. ..
  30. Li M, Rao M, Chen K, Zhou J, Song J. Selection of reference genes for gene expression studies in heart failure for left and right ventricles. Gene. 2017;620:30-35 pubmed publisher
    ..The combination of RPL5, GAPDH and PSMB4 is suitable for the right ventricle and the combination of GAPDH, REEP5 and RAB7A is suitable for the left ventricle. ..
  31. Seto J, Quinlan K, Lek M, Zheng X, Garton F, MacArthur D, et al. ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling. J Clin Invest. 2013;123:4255-63 pubmed publisher
    ..In addition, we have demonstrated that the sarcomeric ?-actinins play a role in the regulation of calcineurin signaling. ..
  32. Espiard S, Drougat L, Libé R, Assié G, Perlemoine K, Guignat L, et al. ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences. J Clin Endocrinol Metab. 2015;100:E926-35 pubmed publisher
    ..Index cases of mutation carriers show a more severe hypercortisolism and larger adrenals. ARMC5 genotyping may help to identify clinical forms of PBMAH better and may also allow earlier diagnosis of this disease. ..
  33. Apolinário T, Paiva C, Agostinho L. REVIEW-ARTICLE Intermediate alleles of Huntington's disease HTT gene in different populations worldwide: a systematic review. Genet Mol Res. 2017;16: pubmed publisher
    ..45 to 8.7% and of individuals with family history of HD ranged from 0.05 to 5.1%. The higher frequency of IAs in the general population (8.7%) was found in one Brazilian cohort. ..
  34. Gazzo A, Raimondi D, Daneels D, Moreau Y, Smits G, Van Dooren S, et al. Understanding mutational effects in digenic diseases. Nucleic Acids Res. 2017;45:e140 pubmed publisher
    ..Together, our results show that digenic disease data generates novel insights, providing a glimpse into the oligogenic realm. ..
  35. Sun S, Wang M, Song H, Wu T, Wei H, He S, et al. SCAP gene polymorphisms decrease the risk of nonalcoholic fatty liver disease in females with metabolic syndrome. J Genet. 2013;92:565-70 pubmed
  36. Ma J, Zhou Y, Xu J, Liu X, Wang Y, Deng Y, et al. Association study of TREM2 polymorphism rs75932628 with late-onset Alzheimer's disease in Chinese Han population. Neurol Res. 2014;36:894-6 pubmed publisher
    ..Our study suggested that TREM2 (rs75932628-T) was rare in Chinese Han population. Further association studies with large samples are needed to further study the association of TREM2 with late-onset Alzheimer's disease. ..
  37. Kushanov F, Buriev Z, Shermatov S, Turaev O, Norov T, Pepper A, et al. QTL mapping for flowering-time and photoperiod insensitivity of cotton Gossypium darwinii Watt. PLoS ONE. 2017;12:e0186240 pubmed publisher
    ..Identified markers should be useful for marker-assisted selection in cotton breeding to improve early flowering characteristics...
  38. Best L, Azure C, Segarra A, Enright K, Hamley S, Jerome D, et al. Genetic variants and risk of asthma in an American Indian population. Ann Allergy Asthma Immunol. 2017;119:31-36.e1 pubmed publisher
    ..American Indian children also appear to have an increased risk of asthma associated with obesity. ..
  39. Okada T, Hashimoto R, Yamamori H, Umeda Yano S, Yasuda Y, Ohi K, et al. Expression analysis of a novel mRNA variant of the schizophrenia risk gene ZNF804A. Schizophr Res. 2012;141:277-8 pubmed publisher
  40. Hatzikotoulas K, Gilly A, Zeggini E. Using population isolates in genetic association studies. Brief Funct Genomics. 2014;13:371-7 pubmed publisher
    ..we discuss the advantages of this approach and review study design and analytical considerations of genetic association studies focusing on isolates...
  41. Kelemen L, Lawrenson K, Tyrer J, Li Q, Lee J, Seo J, et al. Genome-wide significant risk associations for mucinous ovarian carcinoma. Nat Genet. 2015;47:888-97 pubmed publisher
    ..1. Overexpressing HOXD9 in MOC cells augmented the neoplastic phenotype. These findings provide the first evidence for MOC susceptibility variants and insights into the underlying biology of the disease. ..
  42. Ratanaphan A, Panomwan P, Canyuk B, Maipang T. Identification of novel intronic BRCA1 variants of uncertain significance in a Thai hereditary breast cancer family. J Genet. 2011;90:327-31 pubmed
  43. Enstrom M, Held K, Ramage B, Brittnacher M, Gallagher L, Manoil C. Genotype-phenotype associations in a nonmodel prokaryote. MBio. 2012;3: pubmed publisher
    ..In this study, we describe such an approach based on phenotypic analysis of a comprehensive, sequence-defined transposon mutant library. ..
  44. Yassaee V, Emamalizadeh B, Omrani M. Screening for genomic rearrangements at BRCA1 locus in Iranian women with breast cancer using multiplex ligation-dependent probe amplification. J Genet. 2013;92:131-4 pubmed
  45. Moirano G, Zugna D, Grasso C, Mirabelli D, Lista P, Ciuffreda L, et al. Postnatal risk factors for testicular cancer: The EPSAM case-control study. Int J Cancer. 2017;141:1803-1810 pubmed publisher
    ..40, 95% CI: 1.08-5.29) and ever employment in adolescence (OR: 2.59, 95% CI: 0.83-8.10). Our results suggest that postnatal exposures could play a role in testicular cancer aetiology, at least when acting in puberty or adolescence. ..
  46. Liu L, Qiu X. Association between the receptor for advanced glycation end products gene polymorphisms and coronary artery disease. Mol Biol Rep. 2013;40:6097-105 pubmed
    ..79, 95 % CI 0.58-1.07, P(Z) = 0.13]. In conclusion, this meta-analysis suggested that possession of the -374A allele may be a risk factor in CAD among Caucasian patients with type two diabetes. ..
  47. Silverman I, Li F, Alexander A, Goff L, Trapnell C, Rinn J, et al. RNase-mediated protein footprint sequencing reveals protein-binding sites throughout the human transcriptome. Genome Biol. 2014;15:R3 pubmed publisher
    ..From this analysis, we identify numerous putative RBP-binding motifs, reveal novel insights into co-binding by RBPs, and uncover a significant enrichment for disease-associated polymorphisms within RBP interaction sites. ..
  48. Boddy A, Harrison P, Montgomery S, Caravas J, Raghanti M, Phillips K, et al. Evidence of a Conserved Molecular Response to Selection for Increased Brain Size in Primates. Genome Biol Evol. 2017;9:700-713 pubmed publisher
    ..Understanding these commonalities is essential for distinguishing human-specific selection events from general trends in brain evolution...
  49. Yoshioka M, Iehisa J, Ohno R, Kimura T, Enoki H, Nishimura S, et al. Three dominant awnless genes in common wheat: Fine mapping, interaction and contribution to diversity in awn shape and length. PLoS ONE. 2017;12:e0176148 pubmed publisher
    ..On the other hand, the dominant B1 allele acted as a suppressor of the hooded phenotype. These three awning inhibitors largely contribute to the genetic variation in awn length and shape of common wheat. ..
  50. Sabet S, El Sayed S, Mohamed H, El Shinawi M, Mohamed M. Inflammatory breast cancer: High incidence of GCC haplotypes (-1082A/G, -819T/C, and -592A/C) in the interleukin-10 gene promoter correlates with over-expression of interleukin-10 in patients' carcinoma tissues. Tumour Biol. 2017;39:1010428317713393 pubmed publisher
    ..001) by 5.28-fold and 8.95-fold than non-inflammatory breast cancer and healthy control, respectively, where GCC haplotype significantly increased interleukin-10 gene expression (r?=?0.9, p?<?0.001). ..
  51. Fan S, Xu Y, Liu B, He W, Zhang B, Su J, et al. Molecular characterization and expression analysis of the myostatin gene and its association with growth traits in Noble scallop (Chlamys nobilis). Comp Biochem Physiol B Biochem Mol Biol. 2017;212:24-31 pubmed publisher
    ..The CC and AC genotypes of g.-579A/C had significantly higher growth trait values than that of genotype AA (P<0.05). These results suggest that CnMSTN could be used as a candidate gene for the selective breeding of C. nobilis. ..
  52. Li S, Cao Y, He J, Zhao T, Gai J. Detecting the QTL-allele system conferring flowering date in a nested association mapping population of soybean using a novel procedure. Theor Appl Genet. 2017;130:2297-2314 pubmed publisher
  53. Sainz J, Mata I, Barrera J, Perez Iglesias R, Varela I, Arranz M, et al. Inflammatory and immune response genes have significantly altered expression in schizophrenia. Mol Psychiatry. 2013;18:1056-7 pubmed publisher
  54. Zhang M, Pinson S, Tarpley L, Huang X, Lahner B, Yakubova E, et al. Mapping and validation of quantitative trait loci associated with concentrations of 16 elements in unmilled rice grain. Theor Appl Genet. 2014;127:137-65 pubmed
    ..A number of interesting patterns were found, including a strong Mg–P–K complex. ..
  55. Kansler E, Verma A, Langdon E, Simon Vermot T, Yin A, Lee W, et al. Melanoma genome evolution across species. BMC Genomics. 2017;18:136 pubmed publisher
    ..The approaches described here will be broadly applicable to the diverse array of cancer models available in the zebrafish, which can be used to inform human cancer genomics. ..
  56. de Azevedo Peixoto L, Moellers T, Zhang J, Lorenz A, Bhering L, Beavis W, et al. Leveraging genomic prediction to scan germplasm collection for crop improvement. PLoS ONE. 2017;12:e0179191 pubmed publisher
    ..Further research will confirm the applicability of the proposed approach to other complex disease resistance traits and in other crops. ..
  57. Nelson C, Goel A, Butterworth A, Kanoni S, Webb T, Marouli E, et al. Association analyses based on false discovery rate implicate new loci for coronary artery disease. Nat Genet. 2017;49:1385-1391 pubmed publisher
    ..2% of CAD heritability and identify 243 loci that implicate pathways in blood vessel morphogenesis as well as lipid metabolism, nitric oxide signaling and inflammation. ..
  58. Cai G, Zhang X, Weng W, Shi G, Xue S, Zhang B. Associations between PPARG polymorphisms and the risk of essential hypertension. PLoS ONE. 2017;12:e0181644 pubmed publisher
    ..719, 95% CI: 0.537-0.963, P = 0.027; for dominant model, OR = 0.653, 95% CI: 0.439-0.972, P = 0.036). Our meta-analysis suggested that the PPARG polymorphisms might be associated with the risk of EH. ..
  59. Xia J, Sun R. Association between the polymorphisms in XPG gene and gastric cancer susceptibility in Chinese populations: A PRISMA-compliant meta-analysis. Medicine (Baltimore). 2017;96:e8213 pubmed publisher
    ..However, studies with a larger number of subjects among different ethnic groups are needed to further validate the results. ..
  60. Markakis M, Soedring V, Dantzer V, Christensen K, Anistoroaei R. Association of MITF gene with hearing and pigmentation phenotype in Hedlund white American mink (Neovison vison). J Genet. 2014;93:477-81 pubmed
  61. Nashabat M, Maegawa G, Nissen P, Nexo E, Al Shamrani H, Al Owain M, et al. Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations. J Pediatr Hematol Oncol. 2017;39:e430-e436 pubmed publisher
    ..Early detection of the disease and early initiation of aggressive parenteral treatment is probably associated with better prognosis and disease control. ..
  62. Yang X, Li W, Du J, Yuan S, He W, Zhang Q, et al. [Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34:342-346 pubmed publisher
    ..Identification of causative mutations in the BPES patients has provided a basis for genetic counseling and reproductive guidance. The novel mutations have enriched the mutation spectrum of the FOXL2 gene. ..
  63. Forleo C, D Erchia A, Sorrentino S, Manzari C, Chiara M, Iacoviello M, et al. Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies. PLoS ONE. 2017;12:e0181842 pubmed publisher
  64. Haerian M, Haerian B, Molanaei S, Kosari F, Sabeti S, Bidari Zerehpoosh F, et al. Lack of association of CASC8 rs1447295 with colorectal cancer in Iranian population: A multicenter case-control study. Gene. 2017;634:74-76 pubmed publisher
    ..In conclusion, it is unlikely that the rs1447295 polymorphism is a risk variant for the development of CRC in Iranian population. ..
  65. Bentham R, Bryson K, Szabadkai G. MCbiclust: a novel algorithm to discover large-scale functionally related gene sets from massive transcriptomics data collections. Nucleic Acids Res. 2017;45:8712-8730 pubmed publisher
    ..The identified massive biclusters can be used to develop improved transcriptomics based diagnosis tools for diseases caused by altered gene expression, or used for further network analysis to understand genotype-phenotype correlations. ..
  66. Bratuś A, Aeschlimann A, Russo G, Sprott H. Candidate gene approach in genetic epidemiological studies of osteoarthritis-related pain. Pain. 2014;155:217-21 pubmed publisher
  67. You Z, Huang Z, Zhu Z, Yan G, Li Z, Wen Z, et al. PBMDA: A novel and effective path-based computational model for miRNA-disease association prediction. PLoS Comput Biol. 2017;13:e1005455 pubmed publisher
  68. Orosz O, Rajta I, Vajas A, Takacs L, Csutak A, Fodor M, et al. Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X. Invest Ophthalmol Vis Sci. 2017;58:1834-1842 pubmed publisher
    ..To the best of our knowledge, this is the first report on the joint effect of these toxic haplotypes in the two opsin genes on chromosome X. ..
  69. Freua M, Santana M, Ventura R, Tedeschi L, Ferraz J. Using a system of differential equations that models cattle growth to uncover the genetic basis of complex traits. J Appl Genet. 2017;58:393-400 pubmed publisher
  70. Tan X, Wang G, Tang Y, Bai J, Ye L. Association of ADIPOQ and ADIPOR variants with risk of colorectal cancer: A meta-analysis. J Huazhong Univ Sci Technolog Med Sci. 2017;37:161-171 pubmed publisher
    ..And large well-designed studies are still needed for further evaluation of rs822396 and rs1063538, especially for their interaction and combined effect in the correlation with CRC risk. ..
  71. Lolas Hamameh S, Renbaum P, Kamal L, Dweik D, Salahat M, Jaraysa T, et al. Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53. Int J Cancer. 2017;141:750-756 pubmed publisher
    ..Palestinian women with young onset or familial breast cancer and their families would benefit from genetic analysis and counseling. ..
  72. Hickey J, Chiurugwi T, MacKay I, Powell W. Genomic prediction unifies animal and plant breeding programs to form platforms for biological discovery. Nat Genet. 2017;49:1297-1303 pubmed publisher
    ..We propose a strategy for the use of genomic selection as a unifying approach to deliver innovative 'step changes' in the rate of genetic gain at scale. ..
  73. Eggermann T, Elbracht M, Schröder C, Reutter H, Soellner L, Spengler S, et al. Congenital imprinting disorders: a novel mechanism linking seemingly unrelated disorders. J Pediatr. 2013;163:1202-7 pubmed publisher
  74. Bingham C, Fernandez S, Fittipaldi P, Dempsey P, Ruth K, Cristofanilli M, et al. Mutational studies on single circulating tumor cells isolated from the blood of inflammatory breast cancer patients. Breast Cancer Res Treat. 2017;163:219-230 pubmed publisher
    ..Our results indicate that CTCs could represent a non-invasive source of cancer cells from which to determine genetic markers as the disease progresses and identify potential therapeutic targets in IBC patients. ..
  75. Everson J, Fink D, Yoon J, Leslie E, Kietzman H, Ansen Wilson L, et al. Sonic hedgehog regulation of Foxf2 promotes cranial neural crest mesenchyme proliferation and is disrupted in cleft lip morphogenesis. Development. 2017;144:2082-2091 pubmed publisher
  76. Shi D, Wu F, Gao F, Qing X, Shao Z. Prognostic value of long non-coding RNA CCAT1 expression in patients with cancer: A meta-analysis. PLoS ONE. 2017;12:e0179346 pubmed publisher
    ..And the expression level of CCAT1 was associated with clinicopathological features in relevant cancers. ..
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