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Homozygote C/C at rs12543318 was risk factor for non‐syndromic cleft lip only from Western Han Chinese population
Author(s) -
Zhang BiHe,
Huang Ning,
Shi JiaYu,
Shi Bing,
Jia ZhongLin
Publication year - 2018
Publication title -
journal of oral pathology and medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.887
H-Index - 83
eISSN - 1600-0714
pISSN - 0904-2512
DOI - 10.1111/jop.12719
Subject(s) - genetics , genome wide association study , allele , han chinese , snp , chinese population , biology , genetic association , genotype , population , medicine , single nucleotide polymorphism , gene , environmental health
Non‐syndromic cleft lip with or without cleft palate ( NSCL /P) is a complex disorder, and it results from both of the genetic modifiers and environmental factors, with genetic modifiers contributes to it more than environmental factors. GWASs made great progress in identifying the candidate genes for NSCL /P, but the findings need to be replicated in other populations. In this study, we selected eleven SNP s from recent GWAS s and GWAS meta‐analysis to investigate their associations among 308 NSCL /P trios (134 non‐syndromic cleft lip only ( NSCLO ) trios and 174 non‐syndromic cleft lip with cleft palate ( NSCLP ) trios) from Han Chinese population. All SNP s were genotyped using SNP scan method and analyzed the data with FBAT , PLINK , and R package. Allelic TDT analysis showed that allele A at rs12543318 was associated with NSCLO trios ( P = .0032, OR = 0.57, 95% CI : 0.39‐0.83), and parent‐of‐origin effect analysis indicated that allele A at rs12543318 was significantly maternally undertransmitted among NSCLO ( P = .0046), which implied the potential influence of genomic imprinting; global TDT further confirmed this association. Individual genotypic TDT showed homozygote C/C at rs12543318 was overtransmitted among NSCLO (Z = 3.79, P = .00015) and NSCL /P groups (Z = 3.83, P = .00013), which indicated that it could increase the risk to have cleft babies. Our findings indicated that rs12543318 was associated with NSCLO from Western Han Chinese population, which will give new scientific evidence for later researches in the etiology of NSOC s.