肿瘤坏死因子超家族15（TNFSF15）多态性单倍型与印度人群溃疡性结肠炎和克罗恩病的保护性关联。
Protective association of tumor necrosis factor superfamily 15 (TNFSF15) polymorphic haplotype with Ulcerative Colitis and Crohn's disease in an Indian population.
作者信息
Baskaran Kirankumar, Pugazhendhi Srinivasan, Ramakrishna Balakrishnan S
机构信息
Wellcome Trust Research Laboratory, Christian Medical College, Vellore 632 004, India.
Wellcome Trust Research Laboratory, Christian Medical College, Vellore 632 004, India; SRM Institutes for Medical Science, 1 Jawaharlal Nehru Road, Vadapalani, Chennai 600 026, India.
出版信息
PLoS One. 2014 Dec 12;9(12):e114665. doi: 10.1371/journal.pone.0114665. eCollection 2014.
BACKGROUND
Tumor necrosis factor superfamily (TNFSF) proteins are involved in the genesis of inflammatory bowel disease (IBD). We examined the association of seven single nucleotide polymorphisms (SNP) in the TNFSF15 gene with Crohn's disease (CD) and ulcerative colitis (UC) in the Indian population.
METHODS
Seven SNPs in the TNFSF15 gene (rs10114470, rs3810936, rs6478108, rs4263839, rs6478109, rs7848647 and rs7869487) were genotyped in 309 CD patients, 330 UC patients and 437 healthy controls using the Sequenom iPLEX MassArray platform. Disease associations were evaluated for allelotypes and for genotypes.
RESULTS
The minor T alleles and the TT genotypes of rs10114470 and rs3810936 were significantly protectively associated with both CD and UC. The CC genotype of rs6478108, AA genotype of rs4263839, the AA genotype of rs6478109, the TT genotype of rs7848647 and the CC genotype of rs7869487 were all protectively associated with CD but not with UC. Two haplotype blocks could be discerned, one where SNPs rs10114470 and rs3810936 were in tight LD (D' = 0.8) and the other where rs6478108, rs4263839, rs6478109, rs7848647 and rs7869487 were in tight LD (D' 0.92-1.00). The second block of haplotypes were not associated with CD or with UC. The first block of haplotypes was very significantly associated with both CD and UC.
CONCLUSIONS
Strong associations exist between TNFSF15 gene polymorphisms and IBD (both CD and UC) in the Indian population.
背景
肿瘤坏死因子超家族（TNFSF）蛋白参与炎症性肠病（IBD）的发生。我们研究了TNFSF15基因中的7个单核苷酸多态性（SNP）与印度人群中克罗恩病（CD）和溃疡性结肠炎（UC）的关联。
方法
使用Sequenom iPLEX MassArray平台对309例CD患者、330例UC患者和437名健康对照者进行TNFSF15基因中的7个SNP（rs10114470、rs3810936、rs6478108、rs4263839、rs6478109、rs7848647和rs7869487）基因分型。对等位基因类型和基因型进行疾病关联评估。
结果
rs10114470和rs3810936的次要T等位基因和TT基因型与CD和UC均显著呈保护性关联。rs6478108的CC基因型、rs4263839的AA基因型、rs6478109的AA基因型、rs7848647的TT基因型和rs7869487的CC基因型均与CD呈保护性关联，但与UC无关。可以识别出两个单倍型块，一个是SNP rs10114470和rs3810936处于紧密连锁不平衡（D' = 0.8），另一个是rs6478108、rs4263839、rs6478109、rs7848647和rs7869487处于紧密连锁不平衡（D' 0.92 - 1.00）。第二个单倍型块与CD或UC均无关联。第一个单倍型块与CD和UC均非常显著相关。
结论
在印度人群中，TNFSF15基因多态性与IBD（CD和UC）之间存在强关联。
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