A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility
A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility
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DOI：
10.1038/ejhg.2016.131
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发表时间：
2017-01-01
影响因子：
5.2
通讯作者：
Thelma, B. K.
中科院分区：
文献类型：
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作者：
Gupta, Aditi;Juyal, Garima;Thelma, B. K.
有史以来第一个在遗传上不同的北印度人群中进行的溃疡性结肠炎全基因组关联研究（GWAS）确定了两个新基因，即CFB和SLC 44 A4。考虑到它们的生物学相关性，我们使用高密度免疫芯片病例对照基因型数据研究了这些基因在印度北部、日本和荷兰起源的溃疡性结肠炎队列中的等位基因/遗传异质性。进行比较连锁不平衡分析和关联检验。在28个CFB SNP中，在北印度人（P=1.73 x 10（-10））和日本人（P= 2.02 x 10（-12））中观察到rs 4151657（新型溃疡性结肠炎GWAS SNP）的关联强度相似，但在荷兰人中没有。此外，北印度人和日本人之间共享一个三标记单倍型（P
The first ever genome-wide association study (GWAS) of ulcerative colitis in genetically distinct north Indian population identified two novel genes namely CFB and SLC44A4. Considering their biological relevance, we investigated allelic/genetic heterogeneity in these genes among ulcerative colitis cohorts of north Indian, Japanese and Dutch origin using high-density ImmunoChip case-control genotype data. Comparative linkage disequilibrium profiling and test of association were performed. Of the 28 CFB SNPs, similar strength of association was observed for rs4151657 (novel ulcerative colitis GWAS SNP) in north Indians (P=1.73 x 10(-10)) and Japanese (P= 2.02 x 10(-12)) but not in the Dutch. Further, a three-marker haplotype was shared between north Indians and Japanese (P