Wu Jie, Cheng Yan, Zhang Rong, Shen Hao, Ma Li, Yang Jun, Zhang Yanting, Zhang Jun
1 Department of Digestive Diseases, The Second Affiliated Hospital of Xi'an Jiaotong University , Xi'an, China .
2 Department of Digestive Diseases, Shaanxi People's Hospital , Xi'an, China .
Genet Test Mol Biomarkers. 2017 Sep;21(9):555-559. doi: 10.1089/gtmb.2017.0010. Epub 2017 Jul 28.
The SLC44A4 gene was recently reported to be associated with ulcerative colitis (UC) susceptibility in the Indian and Japanese populations. The aim of our study was to investigate the association of common variants within the SLC44A4 gene and the susceptibility to UC among the Han Chinese.
We examined 16 tag single nucleotide polymorphisms (SNPs) within the SLC44A4 gene in a Han Chinese population that consisted of 311 UC patients and 675 healthy controls; both SNP and haplotypic association analyses were performed.
We found that rs2736428 was significantly associated with UC risk (allelic p = 0.0004), and the CT and TT genotypes of rs2736428 had a higher distribution compared with the CC genotypes (genotypic p = 0.001), suggesting that the T allele was a risk allele (odds ratio = 1.45, 95% confidence interval = 1.18-1.78). Moreover, one haplotype block that included rs2736428 was found to be strongly associated with UC risk as well (global p < 0.001).
Our results provide further supportive evidence for an important role of the SLC44A4 gene in the pathogenesis of UC.
最近有报道称，SLC44A4基因与印度和日本人群的溃疡性结肠炎（UC）易感性相关。我们研究的目的是调查SLC44A4基因内常见变异与汉族人群UC易感性之间的关联。
我们在一个由311例UC患者和675例健康对照组成的汉族人群中检测了SLC44A4基因内的16个标签单核苷酸多态性（SNP）；进行了SNP和单倍型关联分析。
我们发现rs2736428与UC风险显著相关（等位基因p = 0.0004），与CC基因型相比，rs2736428的CT和TT基因型分布更高（基因型p = 0.001），表明T等位基因是风险等位基因（优势比 = 1.45，95%置信区间 = 1.18 - 1.78）。此外，还发现一个包含rs2736428的单倍型块也与UC风险密切相关（整体p < 0.001）。
我们的结果为SLC44A4基因在UC发病机制中的重要作用提供了进一步的支持证据。
