title: Association and cumulative effects of GWAS-identified genetic variants for nonsyndromic orofacial clefts in a Chinese population.
abstract: 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.
authors.affiliation: Institute of Stomatology, Nanjing Medical University, Nanjing, China.
authors.forename: Yongchu
authors.initials: Y
authors.lastname: Pan
authors.forename: Yue
authors.initials: Y
authors.lastname: Han
authors.forename: Hongchuang
authors.initials: H
authors.lastname: Zhang
authors.forename: Lian
authors.initials: L
authors.lastname: Zhou
authors.forename: Dandan
authors.initials: D
authors.lastname: Li
authors.forename: Qi
authors.initials: Q
authors.lastname: Cai
authors.forename: Junqing
authors.initials: J
authors.lastname: Ma
authors.forename: Weibing
authors.initials: W
authors.lastname: Zhang
authors.forename: Lin
authors.initials: L
authors.lastname: Wang
mesh_terms: D016022:Case-Control Studies; D002648:Child; D002681:China; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D055106:Genome-Wide Association Study; D006239:Haplotypes; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008297:Male; D008565:Membrane Proteins; D009363:Neoplasm Proteins / Q000235:genetics; D051763:PAX7 Transcription Factor / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D036121:Receptor, EphA3; D012306:Risk; D017422:Sequence Analysis, DNA; D014335:Tropomyosin / Q000235:genetics
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D009363:Neoplasm Proteins; D051763:PAX7 Transcription Factor; C497321:PAX7 protein, human; C485561:SPRY2 protein, human; C477698:THADA protein, human; C490775:TPM1 protein, human; D014335:Tropomyosin; C491718:EPHA3 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D036121:Receptor, EphA3