Karban Amir, Hartman Corina, Eliakim Rami, Waterman Matti, Nesher Shula, Barnett-Griness Ofra, Shamir Raanan
Department of Gastroenterology, Rambam Health Care Campus, Haifa, Israel.
Dig Dis Sci. 2007 Oct;52(10):2707-15. doi: 10.1007/s10620-006-9700-5. Epub 2007 Apr 12.
The paraoxonase (PON) genes family maps to chromosome 7q21-q22, within a loci that also showed evidence of susceptibility genes for both Crohn's disease (CD) and ulcerative colitis (UC). In this case-control study we investigated the possible relationship between PON1 and PON2 polymorphisms and the risk of inflammatory bowel disease (IBD). PON1 192Q/R, PON1 55L/M, and PON2 311S/C polymorphisms were investigated by RFLP analysis in DNA samples from 224 patients with CD, 58 patients with UC, and 311 healthy controls. The PON1 192R allele was significantly less common among IBD Ashkenazi patients (allelic OR = 0.61, P = 0.004, 95% CI = 0.44-0.85). In agreement with the individual SNP analysis, Ashkenazi IBD patients had a higher frequency of haplotype PON1 192Q/PON1 55L/PON2 311S (26.3% vs 17.3%; P=0.003) and a lower frequency of haplotype PON1 192R/PON1 55L/PON2 311S (18.9% vs 27.7%; P=0.008). Our results suggest that in this Ashkenazi Jewish population, carriage of PON1 R192 allele may confer protection against the development of IBD.
对氧磷酶（PON）基因家族定位于7号染色体q21 - q22区域，该区域也显示出与克罗恩病（CD）和溃疡性结肠炎（UC）的易感基因相关的证据。在这项病例对照研究中，我们调查了PON1和PON2基因多态性与炎症性肠病（IBD）风险之间的可能关系。通过RFLP分析，对224例CD患者、58例UC患者和311名健康对照者的DNA样本进行了PON1 192Q/R、PON1 55L/M和PON2 311S/C基因多态性检测。在IBD阿什肯纳兹患者中，PON1 192R等位基因的出现频率显著较低（等位基因OR = 0.61，P = 0.004，95% CI = 0.44 - 0.85）。与单个单核苷酸多态性分析结果一致，阿什肯纳兹IBD患者中，单倍型PON1 192Q/PON1 55L/PON2 311S的频率较高（26.3%对17.3%；P = 0.003），而单倍型PON1 192R/PON1 55L/PON2 311S的频率较低（18.9%对27.7%；P = 0.008）。我们的结果表明，在这个阿什肯纳兹犹太人群体中，携带PON1 R192等位基因可能对IBD的发生具有保护作用。
