A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.
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病例-父母三联体用于唇裂伴/不伴腭裂（CL/P）的全基因组关联研究。两个先前与CL/P无关的基因附近的SNP [MAFB：最显著的SNP rs 13041247，每个次要等位基因的比值比OR=0.704; 95%CI= 0.635，0.778; p=2.05*10−11; ABCA 4：最显著的SNP rs 560426，OR=1.432; 95%CI= 1.292，1.587; p=5.70*10−12]，两个先前鉴定的区域（chr. 8 q24和IRF 6）达到了全基因组显著性。将三人组分层为欧洲和亚洲血统组显示了统计学显著性差异，尽管估计的效应量相似。来自几个人群的复制研究显示了证实的证据，欧洲血统的家庭为8 q24中的标记提供了更强的证据，而亚洲家庭为MAFB和ABCA 4提供了更强的证据。表达研究支持MAFB在腭发育中的作用。
Case-parent trios were used in a genome wide association study of cleft lip with/without cleft palate (CL/P). SNPs near two genes not previously associated with CL/P [MAFB: most significant SNP rs13041247, with odds ratio per minor allele OR=0.704; 95%CI=0.635,0.778; p=2.05*10−11; and ABCA4: most significant SNP rs560426, with OR=1.432; 95%CI=1.292,1.587; p=5.70*10−12] and two previously identified regions (chr. 8q24 and IRF6) attained genome wide significance. Stratifying trios into European and Asian ancestry groups revealed differences in statistical significance, although estimated effect sizes were similar. Replication studies from several populations showed confirming evidence, with families of European ancestry giving stronger evidence for markers in 8q24 while Asian families showed stronger evidence for MAFB and ABCA4. Expression studies support a role for MAFB in palate development.
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