Further evidence of association of the ABCA4 gene with cleft lip/palate.
Further evidence of association of the ABCA4 gene with cleft lip/palate.
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DOI：
10.1111/eos.12001
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发表时间：
2012-12
影响因子：
1.9
通讯作者：
Letra A
中科院分区：
文献类型：
--
作者：
Fontoura C;Silva RM;Granjeiro JM;Letra A
非综合征性唇裂伴或不伴腭裂（CL/P）是一种常见的先天性缺陷，病因复杂。许多基因和环境因素及其相互作用被认为在对CL/P的易感性中起作用。最近一项针对几个人群的全基因组关联研究显示，MAFB和ABCA4基因内/附近的标记是CL/P的新易感位点。我们假设这些基因也可能导致巴西人群中的CL/P，因此我们在病例对照数据集中评估了MAFB [rs13041247和rs11696257]和ABCA4 [rss560426和rs481931]的相关snp是否与CL/P相关。我们对来自巴西的812名高加索人（400例和412名对照）进行了基因分型。我们比较了病例组和对照组以及裂亚组和对照组的等位基因频率。ABCA4 rs540426与CL/P、单侧和右侧CL/P、双侧CL/P有较强的相关性，SNP rs481931与CL/P、双侧CL/P呈边缘性相关性。未发现与MAFB相关。我们的研究结果支持ABCA4在巴西个体CL/P病因学中的潜在作用。
Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with complex etiology. Numerous genes and environmental factors and their interactions are thought to play a role in the susceptibility to CL/P. A recent genome-wide association study with several populations revealed markers in/near MAFB and ABCA4 genes as new susceptibility loci for CL/P. We hypothesized that these genes could also contribute to CL/P in a Brazilian population, hence we evaluated if the associated SNPs in MAFB [rs13041247 and rs11696257] and ABCA4 [rs560426 and rs481931] were associated with CL/P in our case-control dataset. We genotyped 812 Caucasian individuals (400 cases and 412 controls) from Brazil,. Allele frequencies were compared for cases and controls as well as for cleft subgroups and controls. ABCA4 rs540426 showed strong association with CL/P, unilateral and right CL/P, and bilateral CL/P, whereas SNP rs481931 showed borderline association with CL/P, and bilateral CL/P. No association was found for MAFB . Our results support a potential role for ABCA4 in the etiology of CL/P in individuals from Brazil.
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影响因子：
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