A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

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研究成果: 雜誌貢獻文章

355 引文 斯高帕斯(Scopus)

摘要

Case-parent trios were used in a genome-wide association study of cleft lip with and without cleft palate. SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 × 10-11; and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 × 10-12) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance. Stratifying trios into European and Asian ancestry groups revealed differences in statistical significance, although estimated effect sizes remained similar. Replication studies from several populations showed confirming evidence, with families of European ancestry giving stronger evidence for markers in 8q24, whereas Asian families showed stronger evidence for association with MAFB and ABCA4. Expression studies support a role for MAFB in palatal development.
原文英語
頁(從 - 到)525-529
頁數5
期刊Nature Genetics
42
發行號6
DOIs
出版狀態已發佈 - 六月 1 2010
對外發佈Yes

ASJC Scopus subject areas

  • Genetics

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