Different Roles of Two Novel Susceptibility Loci for Nonsyndromic Orofacial Clefts in a Chinese Han Population
Different Roles of Two Novel Susceptibility Loci for Nonsyndromic Orofacial Clefts in a Chinese Han Population
复制标题
DOI：
10.1002/ajmg.a.34170
复制
发表时间：
2011-09-01
影响因子：
2
通讯作者：
Wang, Lin
中科院分区：
文献类型：
--
作者：
Pan, Yongchu;Zhang, Weibing;Wang, Lin
非综合征性口面裂（NSOC）是人类最常见的发育异常。最近，一项大规模的全基因组关联研究发现了两个新的NSOC易感基因座：MAFB附近的rs 13041247和ABCA 4附近的rs 560426。在本研究中，我们招募了396名NSOC病例和384名健康对照，以复制他们与中国汉族人群中NSOC风险及其亚组的相关性。我们发现病例组和对照组之间rs 13041247基因型和等位基因频率有显著差异，而rs 560426基因型和等位基因频率无显著差异。进一步Logistic回归分析显示，与rs 13041247 TT野生型纯合子相比，rs 13041247 CT、CC和CT/CC与NSOC易感性降低相关。此外，在分层分析中还确定了对唇裂伴或不伴腭裂（CL/P）、唇裂伴腭裂（CLP）和单纯唇裂（CLO）的明显保护。然而，任何rs 560426基因型或等位基因均与NSOC或其亚组的风险无关。总之，我们的研究结果证实了MAFB在中国汉族人群NSOC病因学中的贡献。(C)2011 Wiley-Liss，Inc.
Nonsyndromic orofacial clefts (NSOC) are the most common developmental anomalies in human beings. Recently, a large-scale genome-wide association study identified two novel NSOC susceptibility loci: rs13041247 near MAFB and rs560426 near ABCA4. In the present study, we recruited 396 NSOC cases and 384 healthy controls to replicate their associations with risk of NSOC as well as their subgroups in a Chinese Han population. We found the overall genotype and allele frequencies of rs13041247, but not rs560426 were significantly different between cases and controls. Further logistic regression analysis showed rs13041247 CT, CC, and CT/CC were associated with decreased NSOC susceptibility, compared with rs13041247 TT wide-type homozygote. Moreover, the apparent protection against cleft lip with or without cleft palate (CL/P), cleft lip with cleft palate (CLP), and cleft lip only (CLO) was also identified in stratified analysis. However, none of any rs560426 genotypes or alleles was associated with risk of NSOC or their subgroups. Taken together, our findings confirmed the contribution of MAFB in the etiology of NSOC in a Chinese Han population. (C) 2011 Wiley-Liss, Inc.