Guangzhou Women and Children's Medical Center, Guangzhou Medical University, China.
Central Lab, Guangzhou Women and Children's Medical Center Guangzhou Medical University, China.
Arch Oral Biol. 2018 Sep;93:95-99. doi: 10.1016/j.archoralbio.2018.05.015. Epub 2018 May 22.
Previous studies have suggested an association between several polymorphisms of the BMP4 gene and susceptibility to non-syndromic cleft lip with or without cleft palate (NSCL/P) in various populations. However, this association may vary according to ethnic group and the form of NSCL/P. This study analyzed the association between the BMP4 gene polymorphisms rs762642, rs17563, and rs10130587 with the risk of cleft lip only (CLO), cleft palate only (CPO), and cleft lip with palate (CLP) in a population from South China.
This case-control study included 165 patients with NSCL/P (53 patients with CPO, 52 with CLO, and 60 with CLP) and 52 healthy volunteers. Peripheral blood samples were collected from all subjects to genotype the rs762642, rs17563, and rs10130587 polymorphisms by direct sequencing. Genotype and allelic frequencies of these polymorphisms were compared between healthy volunteers and patients with various forms of NSCL/P.
The genotype and allelic frequencies of rs762642 differed significantly between subgroups (CPO and CLP) and normal controls, whereas a significant difference was observed only in the CLO subgroup for the rs17563 polymorphism and in the CLO and CLP groups for the rs10130587 polymorphism. In addition, we identified a novel association of a BMP4 gene polymorphism, which was in linkage disequilibrium with the rs10130587 polymorphism, with CLO and CLP.
The BMP4 gene polymorphisms rs762642, rs17563, and rs10130587 exhibit different associations with different forms of NSCL/P, suggesting that different forms of NSCL/P may have different etiologies.
先前的研究表明，BMP4 基因的几个多态性与多种人群中非综合征性唇裂伴或不伴腭裂（NSCL/P）的易感性有关。然而，这种关联可能因种族和 NSCL/P 的形式而异。本研究分析了 BMP4 基因多态性 rs762642、rs17563 和 rs10130587 与来自中国南方人群的单纯唇裂（CLO）、单纯腭裂（CPO）和唇腭裂（CLP）风险的相关性。
这项病例对照研究纳入了 165 例 NSCL/P 患者（53 例 CPO、52 例 CLO 和 60 例 CLP）和 52 名健康志愿者。从所有受试者中采集外周血样，通过直接测序检测 rs762642、rs17563 和 rs10130587 多态性的基因型。比较了这些多态性在健康志愿者和不同形式的 NSCL/P 患者之间的基因型和等位基因频率。
rs762642 的基因型和等位基因频率在亚组（CPO 和 CLP）和正常对照组之间存在显著差异，而 rs17563 多态性仅在 CLO 亚组和 rs10130587 多态性在 CLO 和 CLP 组中观察到显著差异。此外，我们发现了一个新的 BMP4 基因多态性与 rs10130587 多态性连锁不平衡与 CLO 和 CLP 的关联。
BMP4 基因多态性 rs762642、rs17563 和 rs10130587 与不同形式的 NSCL/P 存在不同的关联，表明不同形式的 NSCL/P 可能具有不同的病因。
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