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营养遗传学:南非黑人人群中酒精与亚甲基四氢叶酸还原酶C677T多态性与同型半胱氨酸的关系实例

Nutritional genetics: the case of alcohol and the MTHFR C677T polymorphism in relation to homocysteine in a black South African population.

作者信息

Nienaber-Rousseau Cornelie, Pisa Pedro T, Venter Christine S, Ellis Suria M, Kruger Annamarie, Moss Sarah J, Melse-Boonstra Alida, Towers G Wayne

机构信息

Centre of Excellence for Nutrition, North-West University, Potchefstroom, South Africa.

出版信息

J Nutrigenet Nutrigenomics. 2013;6(2):61-72. doi: 10.1159/000348839. Epub 2013 Mar 27.

DOI:10.1159/000348839
PMID:23548740
Abstract

BACKGROUND/AIMS: It is unknown whether the effect of alcohol consumption on homocysteine (Hcy) is modulated by the methylenetetrahydrofolate reductase (MTHFR) C677T. We explored this hypothesized effect by analyzing cross-sectional data of 1,827 black South Africans.

METHODS

Total Hcy concentrations were determined by fluorescence polarization immunoassay and the genotype through polymerase chain reaction-based RFLP analysis.

RESULTS

Subjects harboring the 677 TT genotype had the highest Hcy. Among subjects harboring the 677 CC genotype, men had higher Hcy (p = 0.04). Age and gamma-glutamyltransferase (GGT) correlated best (r = 0.26 and r = 0.27; p < 0.05), while the percentage carbohydrate-deficient transferrin and the B vitamins correlated weakly (r < 0.1; p < 0.05) with Hcy. Hcy was positively associated with the reported alcohol intake (p ≤ 0.01). There was no interaction between alcohol consumption and the MTHFR 677 CC or CT genotypes (p > 0.05) for Hcy concentrations; however, an interaction was determined for GGT and the MTHFR genotype (p = 0.02). Age, GGT, gender, MTHFR and vitamin B6 explained 16.8% of the variation in Hcy (p < 0.01).

CONCLUSION

The determined interactions might result in differences in the risk conveyed through Hcy with regard to disease development in those with unfavorable GGT concentrations.

摘要

背景/目的:饮酒对同型半胱氨酸(Hcy)的影响是否受亚甲基四氢叶酸还原酶(MTHFR)C677T调节尚不清楚。我们通过分析1827名南非黑人的横断面数据来探究这一假设效应。

方法

通过荧光偏振免疫测定法测定总Hcy浓度,并通过基于聚合酶链反应的限制性片段长度多态性分析确定基因型。

结果

携带677 TT基因型的受试者Hcy水平最高。在携带677 CC基因型的受试者中,男性的Hcy水平更高(p = 0.04)。年龄与γ-谷氨酰转移酶(GGT)与Hcy的相关性最强(r = 0.26和r = 0.27;p < 0.05),而缺乏碳水化合物的转铁蛋白百分比和B族维生素与Hcy的相关性较弱(r < 0.1;p < 0.05)。Hcy与报告的酒精摄入量呈正相关(p≤0.01)。饮酒与MTHFR 677 CC或CT基因型之间对于Hcy浓度没有交互作用(p > 0.05);然而,确定了GGT与MTHFR基因型之间存在交互作用(p = 0.02)。年龄、GGT、性别、MTHFR和维生素B6解释了Hcy变异的16.8%(p < 0.01)。

结论

所确定的交互作用可能导致在GGT浓度不利的人群中,通过Hcy传递的疾病发生风险存在差异。

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