Lakner Lilla, Csöngei Veronika, Sarlós Patrícia, Járomi Luca, Sáfrány Eniko, Varga Márta, Orosz Péter, Magyari Lili, Bene Judit, Miheller Pál, Tulassay Zsolt, Melegh Béla
Department of Medicine and Gastroenterology, Markusovszky Hospital, Szombathely, Hungary.
Int J Colorectal Dis. 2009 May;24(5):503-7. doi: 10.1007/s00384-009-0670-x. Epub 2009 Feb 13.
We investigated the possible association of IBD with C1672T of SLC22A4 and G-207C of SLC22A5 alleles, and with the novel IGR2096a_1 (rs12521868) and IGR2198a_1 (rs11739135) susceptibility loci, all located on IBD5 locus of chromosome 5q31.
DNA of 217 Crohn's disease, 252 ulcerative colitis, and 290 control patients were analyzed by polymerase chain reaction/restriction fragment length polymorphism methods.
Neither the C1672T and G-207C alleles, nor the TC haplotype were found to be risk factors. By contrast, the minor allele frequencies of IGR2096a_1 T (47.2%) and IGR2198a_1 C (45.9%) were increased in Crohn's disease compared with the controls (38.2% and 37.7%, respectively; p < 0.05); multivariate regression analysis revealed a risk nature for Crohn's disease (OR = 1.748, 95% CI 1.186-2.574; p = 0.007 for T allele, OR = 1.646, 95% CI 1.119-2.423, p = 0.011 for C allele of IGRs).
The data suggest a special haplotype arrangement of susceptibility genes at the IBD5 locus in Hungarians, which nation differs historically from the surrounding Caucasian ethnicities in its origin.
我们研究了炎症性肠病（IBD）与溶质载体家族22成员4（SLC22A4）基因的C1672T、溶质载体家族22成员5（SLC22A5）基因的G - 207C等位基因，以及与新发现的位于5号染色体5q31的IBD5区域的IGR2096a_1（rs12521868）和IGR2198a_1（rs11739135）易感位点之间可能存在的关联。
采用聚合酶链反应/限制性片段长度多态性方法分析了217例克罗恩病患者、252例溃疡性结肠炎患者及290例对照患者的DNA。
未发现C1672T和G - 207C等位基因以及TC单倍型是危险因素。相比之下，与对照组（分别为38.2%和37.7%）相比，克罗恩病患者中IGR2096a_1 T（47.2%）和IGR2198a_1 C（45.9%）的次要等位基因频率升高（p < 0.05）；多因素回归分析显示这些等位基因对克罗恩病具有风险性质（对于IGR2096a_1的T等位基因，OR = 1.748，95% CI为1.186 - 2.574；p = 0.007；对于IGR2198a_1的C等位基因，OR = 1.646，95% CI为1.119 - 2.423，p = 0.011）。
数据表明匈牙利人群中IBD5区域的易感基因存在特殊的单倍型排列，匈牙利在历史起源上与周边白种人不同。
