大麻素受体1基因多态性和肠易激综合征的关系

Relationship between cannabinoid receptor 1 gene polymorphism and irritable bowel syndrome

目的探讨大麻素受体1基因（CNR1）多态性和肠易激综合征的关系。方法选取2014年9月-2016年9月我院消化内科及老年病科收治的60例肠易激综合征患者及同期体检的60例健康患者作为研究对象,60例肠易激综合征患者作为观察组,同期体检的60例健康患者作为对照组,采用PCR技术扩增血清标本中的基因组DNA,并对其进行顺序的测定,比较两组患者常见等位基因及基因型情况,进而对CNR1的多态性和肠易激综合征的关系进行分析。结果对基因组DNA扩增的目标片段进行顺序的测定共发现8种CNR1等位基因和20种基因型,研究对象中出现频率最高的等位基因为AAT13,最常见的基因型是13/13,观察组患者AAT13及13/13基因型出现的频率分别为51.67%和33.33%,与对照组（33.33%、16.67%）相比明显要高;初步得到一定结果后,以等位基因AAT10分界,观察组患者等位基因AAT≥10（96.67%）及基因型为≥10/≥10出现的频率（93.33%）显著高于对照组患者等位基因AAT≥10（83.33%）及基因型为≥10/≥10出现的频率（80.00%）,差异有统计学意义（P〈0.05）。结论肠易激综合征患者CNR1基因的等位基因频率出现最高的为AAT13,其最广泛的基因型为13/13,CNR1基因型的多态性和肠易激综合征的发生存在一些联系,对于拥有≥10等位基因及基因型为≥10/≥10的人群更易患肠易激综合征,这对肠易激综合征早期诊断具有极为重要的临床意义。

Objective To investigate the relationship between cannabinoid receptor 1 gene（CNR1） polymorphism and irritable bowel syndrome. Methods 60 cases of patients with irritable bowel syndrome cured in GI medicine and geriatrics department of our hospital from September 2014 to September 2016 and 60 cases of healthy patients were selected as the research objects.The 60 cases of patient with irritable bowel syndrome were selected as observation group,the 60 cases of patients of health examination during the same period were selected as control group.PCR technology were used to amplify the genomic DNA in serum samples,and its sequence was determined. Common alleles and genotypes of the two groups were compared,and the relationship between CNR1 polymorphism and irritable bowel syndrome were analyzed. Results The genomic DNA amplification of the target fragment sequence determination revealed that there were 8 CNR1 alleles and 20 genotypes.The research object in the highest frequency of the allele was AAT13,the most common genotype was 13/13.The frequencies of AAT13 and 13/13 genotypes in the observation group were 51.67% and 33.33% respectively,which were significantly higher than the control group（33.33%,16.67%）.Some preliminary results,with division of allele AAT10 boundaries,the frequency of allele AAT ≥ 10（96.67%） and genotype frequency ≥ 10/ ≥ 10（93.33%）in observation group were significantly higher than that in control group with allele AAT ≥ 10（83.33%）and genotype frequency ≥ 10/ ≥ 10（80%）,with statistically significant（P〈0.05）. Conclusion The patients with irritable bowel syndrome CNR1 gene allele frequency is the highest in AAT13,and the most widely is genotype 13/13.CNR1 genotype polymorphism and irritable bowel syndrome occurred in the presence of some contact with ≥ 10 alleles and genotypes ≥ 10/ ≥ 10 people are more likely to suffer from irritable bowel syndrome,and the irritable bowel syndrome early diagnosis has important clinical significance.