大麻素受体1基因多态性和肠易激综合征的关系  

Cannabinoid receptor 1 gene polymorphism and irritable bowel syndrome

作　　者：张龙[1] 聂玉强[1] 姜英杰[1] 李瑜元[1] 林泳[1] 

机构地区：[1]广州市第一人民医院消化内科,广东广州510180

出　　处：《赣南医学院学报》2010年第3期363-367,共5页JOURNAL OF GANNAN MEDICAL UNIVERSITY

摘　　要：目的:探讨CNR1基因3′侧翼区AAT重复序列多态性在广东汉族人群的分布及其与IBS的相关性。方法:采用聚合酶链反应(PCR)技术扩增115例符合罗马Ⅲ诊断标准的IBS患者和95例健康对照者外周血的CNR1基因3′侧翼区基因序列并对扩增产物进行基因测序,检测CNR1基因3′侧翼区AAT重复序列多态性。结果:共发现8种CNR1等位基因和20种基因型。IBS组和对照组等位基因频率均以(AAT)13最常见(48.3%vs41.6%),基因型均以13/13最常见(24.3%vs21.3%)。以(AAT)10为界,将等位基因分为两组:<10和≥10;三种基因型:<10/<10,<10/≥10和≥10/≥10。IBS组≥10等位基因频率高于对照组(97.4%vs92.6%,P=0.023);IBS组≥10/≥10基因型多于对照组(94.8%vs86.3%,P=0.033)。IBS男性≥10等位基因频率明显高于对照组男性(98.89%vs92.86%,P=0.045),IBS男性组≥10/≥10基因型所占比例高于对照组,但未达统计学意义(97.78%vs87.5%,P=0.072)。结论:广东汉族人群CNR1基因的等位基因频率最常见为(AAT)13,基因型最常见为13/13。CNR1基因多态性与肠易激综合征有部分相关性,拥有≥10等位基因和≥10/≥10基因型的男性可能更易患腹泻型肠易激综合征。Objectives： To investigate the gene polymorphism of AAT triplet repeats in the 3′-flanking region of the CNR1 gone, and their relationship to IBS. Methods：Polymerase chain reaction （PCR） was used to detect the CNR1 gone expressions in 115 patients with IBS confirmed with Rome m criteria and 95 healthy subjects. All PCR fragments were sequenced to investigate the number variants of AAT triplet repeats in the 3′-flanking region of the CNR1 gene. Results： Eight allele frequencies and 20 genotypes of CNR1 were detected. The most common allele frequency was （AAT） 13 in both IBS group and control group （48.23% vs 42.6% ）. The major genotypes was 13/13 in the IBS group （24.3%） and in control group（21.3% ）. The 8 alleles were divided into two groups comprising shorter alleles （ 〈 10 repeats） and longer alleles （ ≥10 repeats）. This produced three CNR1 genotypes 〈 10/〈 10, 〈 10/≥10 and ≥10/≥10. The CNR1 having 〉110 AAT triplet repeats occurred with greater frequency in IBS patients than in the controls （97.4% vs 92.6%, P = 0. 023） ; There were significant differences be. tween IBS patients and controls on genotypes of ≥ 10/≥ 10 （94.8% vs 86.3%, P = 0. 033）. Allele frequencies ≥ 10 were significant higher in IBS group than in control group in men （98.89% vs 92.86% ,P =0.045）. The frequency of the ≥10/≥10 genotype was higher in IBS male subtypes than in male controls, although there were no significant differences （97.78% vs 87.5%, P = 0. 072）. Conclusions：The most common allele frequency was （AAT）13, and the major genotype was 13/13 in Guangdong Han Population; The CNR1 gene pelymorphism were partly associated with the etiology of IBS. The presence of allele frequencies ≥ 10 and ≥ 10/≥ 10 genotype had an increased risk of development of IBS - D in men.

关 键 词：肠易激综合征 大麻素受体 基因多态性 

分 类 号：R574.4[医药卫生—消化系统]