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. 2013 Oct;42(9):711-5. doi: 10.1111/jop.12063. Epub 2013 Apr 19.
Non-syndromic orofacial clefts (NSOC) are the most common craniofacial birth defects and are considered as complex and multifactorial diseases involving the interplay of genetic predisposition and environmental exposures. Recent studies demonstrated that EYA1, a member of eye absent gene family, might contribute to the development of orofacial clefts. This study aimed to evaluate the association between EYA1 gene polymorphism and NSOC in western Chinese population.
Two single-nucleotide polymorphisms, rs13260349 and rs2380716, were investigated among 199 case-parent trios, and the linkage disequilibrium (LD) test, transmission disequilibrium test, family based association test, and haplotype analysis were performed.
Weak evidence of LD was found between these markers (D' = 0.573, r(2) = 0.218); allel C and genotype C/C at rs13260349 showed an overtransmission in CL/P; haplotype T-T (rs13260349-rs2380716) displayed an association with NSOC and CL/P.
The results showed evidence of weak association between the two SNPs of EYA1 (rs13260349 and rs2380716) and NSOC.
非综合征性口面裂（NSOC）是最常见的颅面出生缺陷，被认为是一种复杂的多因素疾病，涉及遗传易感性和环境暴露的相互作用。最近的研究表明，EYA1，眼缺失基因家族的一员，可能有助于口面裂的发展。本研究旨在评估 EYA1 基因多态性与中国西部人群 NSOC 的相关性。
在 199 个病例-父母三体型中，研究了两个单核苷酸多态性，rs13260349 和 rs2380716，进行了连锁不平衡（LD）检验、传递不平衡检验、基于家庭的关联检验和单倍型分析。
这些标记物之间存在弱 LD 证据（D'=0.573，r²=0.218）；rs13260349 处的等位基因 C 和基因型 C/C 显示 CL/P 中有过度传递；rs13260349-rs2380716 的单倍型 T-T 与 NSOC 和 CL/P 相关。
结果表明 EYA1（rs13260349 和 rs2380716）的两个 SNP 与 NSOC 之间存在弱关联的证据。
