全基因组荟萃分析非综合征型唇裂伴或不伴腭裂鉴定出六个新的风险位点。
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
机构信息
Institute of Human Genetics, University of Bonn, Germany.
出版信息
Nat Genet. 2012 Sep;44(9):968-71. doi: 10.1038/ng.2360. Epub 2012 Aug 5.
Abstract
We have conducted the first meta-analyses for nonsyndromic cleft lip with or without cleft palate (NSCL/P) using data from the two largest genome-wide association studies published to date. We confirmed associations with all previously identified loci and identified six additional susceptibility regions (1p36, 2p21, 3p11.1, 8q21.3, 13q31.1 and 15q22). Analysis of phenotypic variability identified the first specific genetic risk factor for NSCLP (nonsyndromic cleft lip plus palate) (rs8001641; P(NSCLP) = 6.51 × 10(-11); homozygote relative risk = 2.41, 95% confidence interval (CI) 1.84-3.16).
摘要
我们使用迄今为止发表的两项最大的全基因组关联研究的数据，首次对非综合征型唇裂伴或不伴腭裂（NSCL/P）进行了荟萃分析。我们证实了与所有先前确定的位点的关联，并确定了另外六个易感性区域（1p36、2p21、3p11.1、8q21.3、13q31.1 和 15q22）。对表型变异性的分析确定了非综合征型唇裂加腭裂（NSCLP）（rs8001641；P(NSCLP) = 6.51 × 10(-11)；纯合子相对风险 = 2.41，95%置信区间（CI）1.84-3.16）的首个特定遗传风险因素。
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