Environmental and molecular mutagenesis · 2013
Association and cumulative effects of GWAS-identified genetic variants for nonsyndromic orofacial clefts in a Chinese population.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Pan Yongchu, Han Yue, Zhang Hongchuang, Zhou Lian, Li Dandan, Cai Qi, Ma Junqing, Zhang Weibing, Wang Lin
Аннотация
A recent genome-wide meta-analysis identified six new susceptible genetic variants for nonsyndromic orofacial clefts (NSOC), but it was still unknown whether these newly identified variants were associated with NSOC susceptibility in Chinese populations. In this study, we genotyped these variants in a case-control study of 602 NSOC cases and 605 controls and found that four of these variants (rs7590268, rs7632427, rs12543318, and rs1873147) were associated with susceptibility to NSOC. We further investigated the cumulative effects of these four variants and found a dose-dependent increase in risk with the number of variant alleles. Furthermore, an association was observed between rs7590268 and a family history of NSOC. Our results provide confirmative evidence that these risk loci contribute to NSOC susceptibility in Chinese populations.
Предметные рубрики MeSH
Case-Control StudiesChildChinaCleft LipCleft PalateFemaleGene FrequencyGenome-Wide Association StudyHaplotypesHumansIntracellular Signaling Peptides and ProteinsMaleMembrane ProteinsNeoplasm ProteinsPAX7 Transcription FactorPolymorphism, Single NucleotideReceptor Protein-Tyrosine KinasesReceptor, EphA3RiskSequence Analysis, DNATropomyosin