title: Association among polymorphisms at MYH9, environmental factors, and nonsyndromic orofacial clefts in western China.
abstract: Myosin heavy chain 9, nonmuscle (MYH9) and environmental factors have been shown to be associated with nonsyndromic cleft lip with or without cleft palate in several populations. Our study aimed to confirm the contribution of MYH9 and environmental factors to nonsyndromic orofacial cleft risk in western Han Chinese. Four single-nucleotide polymorphisms were investigated in 180 case trios and 224 normal peers in western China using transmission disequilibrium test, family-based association test analysis, and logistic regression models. Strong evidence of linkage disequilibrium was found between these markers and the disease by both single-nucleotide polymorphism analysis (G allele at rs2269529 and T allele at rs16996652) and haplotype analysis (G-T [for rs2269529 and rs16996652] and G-A-T [for rs2269529, rs3752462, and rs16996652] among others). Mothers' illness, medication, and passive smoking during the first trimester may increase the risk of nonsyndromic orofacial clefts, but mothers' vitamin (including folic acid) supplementation during the first trimester is a protective factor. Interactions between mothers' passive smoking during the first trimester and T/T genotype of rs16996652 had statistical significance. Risk factors identified in our study may provide a better understanding of the etiological role of MYH9 and influence of environmental factors in nonsyndromic orofacial cleft incidence.
authors.affiliation: State Key Laboratory of Oral Disease and Department of Cleft Lip and Palate Surgery, West China College of Stomatology, Sichuan University, Chengdu, People's Republic of China.
authors.forename: Zhong-Lin
authors.initials: ZL
authors.lastname: Jia
authors.forename: Yang
authors.initials: Y
authors.lastname: Li
authors.forename: Chun-Hui
authors.initials: CH
authors.lastname: Chen
authors.forename: Sheng
authors.initials: S
authors.lastname: Li
authors.forename: Yan
authors.initials: Y
authors.lastname: Wang
authors.forename: Qian
authors.initials: Q
authors.lastname: Zheng
authors.forename: Bing
authors.initials: B
authors.lastname: Shi
mesh_terms: D002971:Cleft Lip / Q000235:genetics* / Q000517:prevention & control; D002972:Cleft Palate / Q000235:genetics* / Q000517:prevention & control; D004777:Environment; D005260:Female; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D020409:Molecular Motor Proteins / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D014028:Tobacco Smoke Pollution; D014815:Vitamins / Q000008:administration & dosage
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D014028:Tobacco Smoke Pollution; D014815:Vitamins; D018995:Myosin Heavy Chains