Evaluation of the association of polymorphisms in EYA1, environmental factors, and non-syndromic orofacial clefts in Western Han Chinese
Evaluation of the association of polymorphisms in EYA1, environmental factors, and non-syndromic orofacial clefts in Western Han Chinese
复制标题
西汉族EYA1多态性、环境因素与非综合征性口颌裂的关联性评价
DOI：
10.1111/jop.12311
复制
发表时间：
2015-11-01
影响因子：
3.3
通讯作者：
Jia, Zhong-Lin
中科院分区：
文献类型：
--
作者：
Zeng, Ni;Wu, Jun;Jia, Zhong-Lin
背景非综合征性口面裂（NSOC）是一种涉及遗传因素、环境因素及其相互作用的复杂疾病。EYA 1基因是眼缺失基因家族的成员之一，近年来的研究表明，EYA 1基因可能与NSOC有关（孕早期多种维生素、叶酸和钙补充史、母亲饮酒史、普通感冒史、母亲吸烟和环境烟草烟雾，在294个病例-父母三人组和183个个体对照组中，研究EYA 1与环境因素和NSOC的关系。为进一步了解该基因在非小细胞肺癌病因学中的作用，我们从连锁不平衡检验、传递不平衡检验、单倍型分析、多元Logistic回归分析和条件Logistic回归分析等方面进行了统计学分析。rs 10094908位点A/A基因型在NSCL/P三人组中呈低传递（P = 0.03），而在NSCPO三人组中呈高传递（P=0.02）。单倍型GC rs 10094908-rs3779748在NSCL/P三联体（P=0.05）和NSCPO三联体（P=0.05）中分别过度传递。母亲的普通感冒史，环境吸烟，母亲饮酒在怀孕的头三个月是NSOC的危险因素，而在怀孕的头三个月补充钙显示出保护作用。EYA 1和环境因素之间的相互作用没有证据被发现。ConclusionsThese结果揭示了EYA 1之间的关联，一些环境因素，和中国西部汉族人的NSOC。
BackgroundNon-syndromic orofacial clefts (NSOCs) are complex disease involving genetic triggers, environmental factors, and their interplay. Recent studies demonstrated that EYA1, a member of eye absent gene family, might contribute to NSOCs.MethodsWe investigated three single nucleotide polymorphisms (SNPs) and eight environmental factors (multivitamin, folic acid and calcium supplementation history, maternal alcohol consumption, common cold history, maternal smoking and environmental tobacco smoke in the first trimester, and paternal smoking in the 3months before pregnancy) among 294 case-parent trios and 183 individual controls in western Han Chinese to evaluate the relationship between EYA1, environmental factors, and NSOCs. To be better known the gene's role in the etiology of NSOCs, we performed statistical analysis in different aspects including the linkage disequilibrium test, transmission disequilibrium test, haplotype analysis, multiple logistic regression analysis, and conditional logistic regression analysis.ResultsAllele C at rs3779748 showed an over-transmission in NSCL/P trios (P=0.03), and genotype A/A at rs10094908 was under-transmitted among NSCL/P trios (P=0.03), whereas over-transmitted among NSCPO trios (P=0.02). The haplotype GC of rs10094908-rs3779748 was over-transmitted among NSCL/P trios (P=0.05) and NSCPO trios (P=0.05), respectively. Maternal common cold history, environmental tobacco smoke, and maternal alcohol consumption during the first trimester of pregnancy were risk factors for NSOCs, while calcium supplementation during the first trimester showed a protective effect. No evidence of interactions between EYA1 and environmental factors was found.ConclusionsThese results revealed an association between EYA1, some environmental factors, and NSOCs in western Han Chinese.