Association between rs1229984 in ADH1B and cancer prevalence in a Japanese population
Association between rs1229984 in ADH1B and cancer prevalence in a Japanese population
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DOI：
10.3892/mco.2020.2021
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发表时间：
2020-06-01
影响因子：
1.2
通讯作者：
Muramatsu, Masaaki
中科院分区：
文献类型：
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作者：
Govind, Pallavi;Pavethynath, Shilpa;Muramatsu, Masaaki
饮酒是一个确定的癌症风险因素，但关于日本人群中酒精代谢基因的遗传多态性对酒精相关癌症风险的影响知之甚少。ADH 1B基因（乙醇脱氢酶1B），单核苷酸多态性（SNP）rs 1229984和癌症之间的关联已被广泛研究，但证据不一致。这项基于人群的病例对照研究主要旨在阐明SNP rs 1229984与日本人群总体和特定癌症风险之间的任何关联。功能性非同义SNP rs 1229984（Arg 48 His）的基因分型使用的DNA样本从1,359个连续尸检病例中登记在日本单核苷酸多态性老年研究数据库。来自该数据库的医疗和病理记录数据用于对病例和对照进行分类。结果包括1，359名参与者，816名病例和543名对照。多项逻辑回归分析显示，在显性和隐性遗传模型中，rs 1229984的存在与总体癌症风险之间无显著相关性[Arg/Arg+Arg/His vs. His/His：校正比值比（OR）=0.66（95%CI =0.39-1.13; P=0.129），Arg/Arg vs. Arg/His+His/His：OR=0.95（95%CI =0.75-1.20; P=0.657）]。结果显示，rs 1229984纯合子（His/His基因型）患肺癌的风险显著低于其他基因型[隐性模型：OR=0.64（95%CI =0.44-0.93; P=0.020）]。总之，rs 1229984与总体或特定癌症的几率之间没有显着关联，除了在肺癌中，His/His基因型降低了几率。据我们所知，His/His与肺癌发病率降低之间的关联是一个新发现。这些发现需要在更大规模的研究中进一步验证。
Alcohol consumption is an established risk factor for cancer, but little is known regarding the effect of genetic polymorphisms in alcohol metabolism genes on alcohol-related cancer risk in the Japanese population. Associations between the ADH1B gene (alcohol dehydrogenase 1B), single nucleotide polymorphism (SNP) rs1229984 and cancer have been extensively studied yet evidence is inconsistent. This population-based case-control study primarily aimed to clarify any association between SNP rs1229984 in both overall and specific cancer risk in a Japanese population. The functional non-synonymous SNP rs1229984 (Arg48His) was genotyped using DNA samples from 1,359 consecutive autopsy cases registered in The Japanese Single Nucleotide Polymorphisms for Geriatric Research database. Medical and pathological record data from this database were used to categorise cases and controls. Results included 1,359 participants, 816 cases and 543 controls. Multinomial logistic regression analyses showed no significant association between rs1229984 presence and overall cancer risk in both dominant and recessive genetic inheritance models [Arg/Arg+Arg/His vs. His/His: Adjusted odds ratio (OR)=0.66 (95% CI=0.39-1.13; P=0.129), Arg/Arg vs. Arg/His+His/His: OR=0.95 (95% CI=0.75-1.20; P=0.657)]. However, results showed those homozygous for rs1229984 (genotype His/His) were at significantly decreased odds of lung cancer than other genotypes [recessive model: OR=0.64 (95% CI=0.44-0.93; P=0.020]. In conclusion, there was no significant association between rs1229984 and odds of overall or specific cancers except in lung cancer where His/His genotype decreased odds. To the best of our knowledge, the association between His/His and decreased odds of lung cancer is a novel finding. These findings require further validation in larger studies.