阿塞拜疆人群中基因C677T多态性（rs1801133）与结直肠息肉易感性

Gene C677T Polymorphism (rs1801133) and Susceptibility to Colorectal Polyps in an Azerbaijani Population.

作者信息

Aslanov Hazi, Bayramov Bayram, Reissfelder Christoph, Abdullayeva Shams, Mammadova Zeynab, Aliyev Fikrat, Keese Michael, Hajibabazade Javahir, Yagublu Vugar

机构信息

Department of Surgery, Scientific Center of Surgery after academician M.A.Topchubashov, Baku AZ1122, Azerbaijan.

Laboratory of Human Genetics, Genetic Resources Institute of Ministry of Science and Education, Baku AZ1106, Azerbaijan.

出版信息

J Clin Med. 2023 Dec 30;13(1):219. doi: 10.3390/jcm13010219.

DOI:10.3390/jcm13010219

PMID:38202226

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10779477/

Abstract

BACKGROUND

Understanding the relationships between the methylenetetrahydrofolate reductase () gene polymorphism, colorectal polyps, and CRC risk can aid in advancing personalized medicine approaches in CRC prevention. The aim of the current study is to identify the association of C677T polymorphism of the gene with the risk of colorectal polyps in the Azerbaijani population.

METHODS

This study included 125 patients with colon polyps and 155 healthy individuals as a control group. DNA was extracted from venous blood samples obtained from patients and healthy individuals, and the results were analyzed through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and agarose gel electrophoresis.

RESULTS

Wild-type, heterozygote, and homozygous mutant were revealed within 69 (55.2%), 49 (39.2%), and 7 (5.6%) patients and within 100 (64.5%), 45 (29%), and 10 (6.5%) healthy controls, respectively. However, no significant statistical associations were observed between CT and TT genotypes, dominant (CC vs. CT + TT) and recessive (CC + CT vs. TT) models, and the mutant T allele and disease risk. There were also no significant differences between patients and controls regarding age, sex, smoking and alcohol use.

CONCLUSION

Our research did not reveal any significant association between the C677T polymorphism and susceptibility to colorectal polyps in the Azerbaijan population.

摘要

背景

了解亚甲基四氢叶酸还原酶（）基因多态性、结肠息肉与结直肠癌风险之间的关系有助于推进结直肠癌预防中的个性化医疗方法。本研究的目的是确定该基因C677T多态性与阿塞拜疆人群结肠息肉风险的关联。

方法

本研究纳入125例结肠息肉患者和155例健康个体作为对照组。从患者和健康个体采集的静脉血样本中提取DNA，并通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和琼脂糖凝胶电泳分析结果。

结果

分别在69例（55.2%）患者和100例（64.5%）健康对照中检测到野生型、杂合子和纯合突变体，在49例（39.2%）患者和45例（29%）健康对照中检测到杂合子，在7例（5.6%）患者和10例（6.5%）健康对照中检测到纯合突变体。然而，未观察到CT和TT基因型、显性（CC与CT + TT）和隐性（CC + CT与TT）模型以及突变T等位基因与疾病风险之间存在显著的统计学关联。患者和对照在年龄、性别、吸烟和饮酒方面也无显著差异。