乙醛脱氢酶2基因多态性性别与地域分布研究

The study on gender and geographical distribution of aldehyde dehydrogenase 2 gene polymorphism

目的分析中国人群酒精代谢相关关键基因乙醛脱氢酶(ALDH2)rs671位点多态性的分布特征,为酒精危害防治、饮酒行为研究等提供基础数据.方法选取全国各地送检杭州迪安医学检验中心的健康体检人群口腔拭子样本,以Taqman探针法检测ALDH2 rs671位点基因型.各位点分型数据经Hardy-Weinberg 遗传平衡检验验证取样分布.按照样本来源地将取样人群分为南方人群与北方人群(秦岭-淮河分割线分割)以SPSS 11.0分析,采用χ^2检验比较基因型分布的差异.以P<0.05为差异有显著性.结果共收集到645例样本,均为汉族.其中男447例,女198例.北方人群(来自山东、北京、山西、黑龙江、内蒙古、辽宁、宁夏等地)352例样本.南方人群(来自湖北、江西、上海、浙江、云南、四川、广东等地)共293例.采样分布符合Hardy-Weinberg平衡.ALDH2 rs671位点基因型分布在男性与女性人群中分布未发现明显差异(P=0.603).在南北方人群中分布存在差异性(P=0.048).南方人群AA型、GA型、GG型所占比例依次为:4.10%、32.76%和63.14%,北方人群分别为:1.42%、28.98%和69.60%,计算等位基因频率,南北方人群中分布存在差异性(P=0.033).结论 ALDH2 rs671基因多态性在性别分布中未见明显差异,在地域分布(南北方)中存在差异性.该项研究可为酒精代谢能力评估、酒精危害防治、饮酒行为研究等提供遗传学数据参考.

Objective To analyze the distribution of aldehyde dehydrogenase 2(ALDH2)rs671 polymorphism in Chinese population. To provide basic data for alcohol hazard prevention and drinking behavior research. Methods Oral swab samples from healthy people in HangZhou Dian Medical Laboritory were selected from all over the country. The ALDH2 rs671 genotype was detected by Taqman probe method. The genotype distribution data was verified by the Hardy-Weinberg genetic balance test. Study population was divided into southern population and northern population according to the source region of the sample(Qinling-Huaihe dividing line segmentation),and the chi-square test was used to compare the differences in genotype distribution in SPSS 11.0. The difference was significant at P<0.05. Results A total of 645 samples were collected,all of which were Han. There were 447 males and 198 females. 352 samples from the northern population(from Shandong,Beijing,Shanxi,Heilongjiang,Inner Mongolia, Liaoning,Ningxia,etc.). 293 cases were from the southern population(from Hubei,Jiangxi,Shanghai,Zhejiang,Yunnan,Sichuan, Guangdong,etc.). The sampling distribution was in Hardy-Weinberg equilibrium. There was no significant difference in genotype distribution between male and female populations(P=0.603). There was a difference in distribution among the populations in north and south(P=0.048). The proportions of AA,GA and GG in the southern population were:4.10%,32.76% and 63.14%,and the northern population were:1.42%,28.89% and 69.60%, respectively. There was a difference in distribution of allele frequency in north and south population(P=0.033). Conclusion There is no significant difference of ALDH2 rs671 gene polymorphism in gender distribution,and there are differences in geographical distribution(North and South). The study provides genetic data reference for alcohol metabolism assessment,alcohol hazard prevention,and drinking behavior studies.