Vitamin D receptor gene polymorphism and ulcerative colitis susceptibility in Han Chinese
Vitamin D receptor gene polymorphism and ulcerative colitis susceptibility in Han Chinese
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DOI：
10.1111/j.1751-2980.2011.00483.x
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发表时间：
2011-04-01
影响因子：
3.5
通讯作者：
Chi, Bao Rong
中科院分区：
文献类型：
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作者：
Pei, Feng Hua;Wang, Yan Jun;Chi, Bao Rong
目的：研究维生素D受体(VDR)基因多态性与炎症性肠病(IBD)遗传易感性的关系。方法：采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法，对218例溃疡性结肠炎(UC)患者和251例健康对照的VDR基因进行基因分型。分析VDR基因Apa I、Taq I、Bsm I和Fok I的遗传易感性和表型易感性。结果：在所检测的4个VDR基因多态性中，Bsm I多态性在本研究人群中的分布略高于以往的研究。汉族人BSM I VDR基因BB型频率增加与UC的发病相关(28.4%vs.18.7%，x~2=6.044，P=0.014，OR=1.739，95%CI=1.122~2.697)。UC组Bsm I等位基因(B)频率显著高于健康对照组(14.7%vs.7.8%，P=0.013；OR=1.670，95%CI=1.113~2.506)。相反，在中国汉族人群中，其他3个VDR基因(Apa I、Taq I和Fok I)与UC易感性无关。结论：本研究证实了VDR基因Bsm I多态与中国汉族人溃疡性结肠炎易感性的关系。
OBJECTIVE:Specific polymorphisms in the vitamin D receptor (VDR) gene have been associated with genetic susceptibility to inflammatory bowel disease (IBD) in different ethnic populations.METHODS:A total of 218 ulcerative colitis (UC) patients and 251 healthy controls were genotyped for VDR gene polymorphisms using PCR-restriction fragment length polymorphism (PCR-RFLP) assay. VDR gene polymorphisms (Apa I, Taq I, Bsm I and Fok I) were analyzed for both genotypic and phenotypic susceptibilities.RESULTS:Among the four examined VDR gene polymorphisms, the Bsm I polymorphism showed a slightly higher distribution in our study population than that in the previous studies. We also found that the increased frequency of the Bb genotype of the Bsm I VDR gene polymorphism was associated with UC in Han Chinese, as compared with healthy controls (28.4% vs. 18.7%, chi 2 = 6.044, P = 0.014, OR = 1.739, 95% CI = 1.122-2.697). Moreover, Bsm I polymorphic allele (B) frequency was significantly increased in the UC cases, as compared to the healthy controls (14.7% vs. 7.8% chi 2 = 6.222, P = 0.013; OR = 1.670, 95% CI = 1.113-2.506). In contrast, the other three VDR gene polymorphisms (Apa I, Taq I and Fok I) were not associated with UC susceptibility in the Han Chinese cohort. In addition, none of these four VDR polymorphisms had statistical association with clinicopathological parameters of these UC patients.CONCLUSION:This study demonstrated a probable association of the Bsm I polymorphism of the VDR gene with ulcerative colitis susceptibility in Han Chinese.