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Association and cumulative effects of GWAS‐identified genetic variants for nonsyndromic orofacial clefts in a Chinese population
Author(s) -
Pan Yongchu,
Han Yue,
Zhang Hongchuang,
Zhou Lian,
Li Dandan,
Cai Qi,
Ma Junqing,
Zhang Weibing,
Wang Lin
Publication year - 2013
Publication title -
environmental and molecular mutagenesis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 87
eISSN - 1098-2280
pISSN - 0893-6692
DOI - 10.1002/em.21773
Subject(s) - genetics , genome wide association study , biology , allele , genetic association , genetic predisposition , genotype , gene , single nucleotide polymorphism
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. Environ. Mol. Mutagen. 54:261–267, 2013. © 2013 Wiley Periodicals, Inc.