[Association between platelet-derived growth factor-C single nucleotide polymorphisms and nonsyndromic cleft lip with or without cleft palate in Western Chinese population].

To explore the association between two single nucleotide polymorphisms (SNPs), namely, rs4691383 and rs7667857, in the platelet-derived growth factor-C (PDGF-C) gene, the genotypes, environmental exposure factors, and nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Western Chinese population. A total of 268 case-parent trios were selected, and two SNPs (rs4691383 andrs7667857) were genotyped by using polymerase chain reaction and restriction enzyme fragment length polymorphic method and direct sequencing method. Hardy-Weinberg equilibrium, linkage disequilibrium test, transmission disequilibrium test, and haplotype analysis were conducted to analyze the data. Meanwhile, the questionnaires on the epidemiology of cleft lip and palate filled by the included samples were collected, and the interaction between the genotypes of the two SNPs and environmental exposure factors was assessed by conditional logistic regression. The A allele at rs4691383 and the G allele at rs7667857 of PDGF-C gene were over-transmitted for NSCL/P (P<0.05). No interaction effect was observed between the three environmental exposure factors (history of smoking/passive smoking, folic acid supplementation, and long-term inhalation of harmful environmental gases) and the PDGF-C genotypes among NSCL/P (P>0.05). The rs4691383 and rs7667857 at PDGF-C gene are closely related to the occurrence of NSCL/P in Western Chinese population. However, the interaction between environmental exposure factors and PDGF-C genotypes is not obvious in the occurrence of NSCL/P. 目的 探究中国西部汉族人群血小板源性生长因子C（PDGF-C）基因的靶向单核苷酸多态性（SNPs）位点rs4691383、rs7667857及其基因型以及环境暴露因素与非综合征型唇腭裂（NSCL/P）发生的相关性。方法 收集268个NSCL/P病例—父母核心三人家系，采用聚合酶链反应—限制性酶切片段长度多态法和直接测序法对2个靶向SNPs位点（rs4691383、rs7667857）进行基因分型，使用哈温平衡检验、连锁不平衡检验、传递不平衡检验、单倍型关联分析等方法进行统计学分析。同时收集纳入对象所填写的唇腭裂流行病学研究问卷，对PDGF-C基因和环境暴露因素之间是否存在交互作用进行条件Logistic回归分析。结果 PDGF-C基因rs4691383位点的A等位基因和rs7667857位点的G等位基因在NSCL/P发生中存在过度传递（P<0.05）。孕妇吸烟/被动吸烟史、叶酸补充史、环境有害气体长期吸入史3个环境暴露因素与PDGF-C基因的SNPs位点基因型之间均不存在交互作用（P>0.05）。结论 PDGF-C基因rs4691383位点和rs7667857位点多态性与中国西部汉族人群NSCL/P的发生具有相关性；但在NSCL/P的发生过程中环境暴露因素与PDGF-C基因的SNPs位点基因型之间的交互作用不明显。.