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首页> 外文期刊>DNA and Cell Biology >Case-Control and Family-Based Association Studies of Novel Susceptibility Locus 8q24 in Nonsyndromic Cleft Lip With or Without Cleft Palate in a Southern Han Chinese Population Located in Guangdong Province
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Case-Control and Family-Based Association Studies of Novel Susceptibility Locus 8q24 in Nonsyndromic Cleft Lip With or Without Cleft Palate in a Southern Han Chinese Population Located in Guangdong Province

机译：中国广东省南部汉族人群非综合征性唇裂伴或不伴left裂的新型易感基因座8q24的病例对照和基于家庭的关联研究

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摘要

Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common congenital malformations and a susceptibility locus on chromosome 8q24 has been replicated as a genetic risk factor for NSCL/P in patients of European and Asian descent. However, given considerable variations in allele frequencies across geographical regions studied, the aim of this study was to investigate the association of rs987525 located at 8q24 with NSCL/P only among the southern Han Chinese population from Guangdong province. We recruited 216 NSCL/P cases, their parents, and 200 controls to conduct case-control analysis and family-based association studies. Genotyping of rs987525 was carried out by the matrix assisted laser desorption ionization-time of flight mass spectrometry method. Case-control analysis showed allele and genotype distributions for rs987525 were not significantly associated with the risk of NSCL/P in our study population. Similar results were found when all cases were stratified into cleft lip only and cleft lip with cleft palate. A transmission disequilibrium test showed no statistically significant transmission of A nor C alleles and family-based association test (FBAT) analysis provided no evidence of NSCL/P risk with single markers. These results do not provide evidence for an association between rs987525 at 8q24 and the risk of NSCL/P in the southern Han Chinese population from Guangdong province.
机译：有或没有c裂（NSCL / P）的非综合征性唇裂是最常见的先天性畸形之一，并且在欧洲和亚洲人后裔中，第8q24染色体上的易感基因座已被复制为NSCL / P的遗传危险因素。但是，考虑到所研究地理区域之间等位基因频率的巨大差异，本研究的目的是仅在广东省南部的汉族人群中调查位于8q24的rs987525与NSCL / P的关联。我们招募了216个NSCL / P病例，他们的父母和200个对照，以进行病例对照分析和基于家庭的关联研究。 rs987525的基因分型是通过基质辅助激光解吸电离飞行时间质谱法进行的。病例对照分析显示，rs987525的等位基因和基因型分布与我们研究人群的NSCL / P风险没有显着相关。当所有病例仅分为唇裂和唇裂伴with裂时，发现相似的结果。传播不平衡测试表明，A和C等位基因均无统计学意义的传播，基于家族的关联测试（FBAT）分析没有提供单一标记物的NSCL / P风险证据。这些结果并没有提供证据表明第8q24天的rs987525与广东省南部汉族人群的NSCL / P风险之间存在关联。

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