Zeng Ni, Wu Jun, Zhu Wen-Chao, Shi Bing, Jia Zhong-Lin
State Key Laboratory of Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China.
Department of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu, China.
J Oral Pathol Med. 2015 Nov;44(10):864-9. doi: 10.1111/jop.12311. Epub 2015 Jan 31.
Non-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.
We 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 3 months 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.
Allele 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.
These results revealed an association between EYA1, some environmental factors, and NSOCs in western Han Chinese.
非综合征性口面部裂隙（NSOCs）是一种涉及遗传因素、环境因素及其相互作用的复杂疾病。最近的研究表明，EYA1（眼缺失基因家族的成员）可能与NSOCs有关。
我们在294例病例 - 亲代三联体和183例个体对照的中国西部汉族人群中，研究了三个单核苷酸多态性（SNP）和八个环境因素（多种维生素、叶酸和钙补充史、母亲饮酒、感冒史、孕早期母亲吸烟和环境烟草烟雾暴露以及孕前3个月父亲吸烟情况），以评估EYA1、环境因素与NSOCs之间的关系。为了更好地了解该基因在NSOCs病因中的作用，我们进行了不同方面的统计分析，包括连锁不平衡检验、传递不平衡检验、单倍型分析、多元逻辑回归分析和条件逻辑回归分析。
rs3779748位点的等位基因C在非综合征性唇腭裂（NSCL/P）三联体中过度传递（P = 0.03），rs10094908位点的基因型A/A在NSCL/P三联体中传递不足（P = 0.03），而在非综合征性唇腭裂合并腭裂（NSCPO）三联体中过度传递（P = 0.02）。rs10094908 - rs3779748的单倍型GC分别在NSCL/P三联体（P = 0.05）和NSCPO三联体（P = 0.05）中过度传递。母亲感冒史、环境烟草烟雾暴露以及孕早期母亲饮酒是NSOCs的危险因素，而孕早期补充钙具有保护作用。未发现EYA1与环境因素之间存在相互作用的证据。
这些结果揭示了中国西部汉族人群中EYA1、一些环境因素与NSOCs之间的关联。
