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FUT2 基因常见变异与印度人群维生素 B(12)水平相关。

Common variant in FUT2 gene is associated with levels of vitamin B(12) in Indian population.

机构信息

Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi-110007, India.

出版信息

Gene. 2013 Feb 15;515(1):224-8. doi: 10.1016/j.gene.2012.11.021. Epub 2012 Nov 29.

Abstract

Vitamin B(12) is an essential micronutrient synthesized by microorganisms. Mammals including humans have evolved ways for transport and absorption of this vitamin. Deficiency of vitamin B(12) (either due to low intake or polymorphism in genes involved in absorption and intracellular transport of this vitamin) has been associated with various complex diseases. Genome-wide association studies have recently identified several common single nucleotide polymorphisms (SNPs) in fucosyl transferase 2 gene (FUT2) to be associated with levels of vitamin B(12)-the strongest association was with a non-synonymous SNP rs602662 in this gene. In the present study, we attempted to replicate the association of this SNP (rs602662) in an Indian population since a significant proportion has been reported to have low levels of vitamin B(12) in this population. A total of 1146 individuals were genotyped for this SNP using a single base extension method and association with levels of vitamin B(12) was assessed in these individuals. Regression analysis was performed to analyze the association considering various confounding factors like for age, sex, diet, hypertension, diabetes mellitus and coronary artery disease status. We found that the SNP rs602662 was significantly associated with the levels of vitamin B(12) (p value<0.0001). We also found that individuals adhering to a vegetarian diet with GG (homozygous major genotype) have significantly lower levels of vitamin B(12) in these individuals. Thus, our study reveals that vegetarian diet along with polymorphism in the FUT2 gene may contribute significantly to the high prevalence of vitamin B(12) deficiency in India.

摘要

维生素 B(12) 是一种由微生物合成的必需微量营养素。包括人类在内的哺乳动物已经进化出了运输和吸收这种维生素的方法。维生素 B(12) 缺乏(由于摄入不足或与吸收和细胞内运输这种维生素有关的基因多态性)与各种复杂疾病有关。全基因组关联研究最近确定了几个常见的岩藻糖基转移酶 2 基因(FUT2)中的单核苷酸多态性(SNP)与维生素 B(12)水平相关,最强的关联是该基因中的一个非同义 SNP rs602662。在本研究中,我们试图在印度人群中复制该 SNP(rs602662)的关联,因为据报道该人群中维生素 B(12)水平显著较低。我们使用单碱基延伸方法对 1146 个人进行了该 SNP 的基因分型,并评估了这些个体中维生素 B(12)水平的关联。回归分析用于分析考虑年龄、性别、饮食、高血压、糖尿病和冠心病状态等各种混杂因素的关联。我们发现 SNP rs602662 与维生素 B(12)水平显著相关(p 值<0.0001)。我们还发现,遵循素食饮食且 GG(纯合主要基因型)的个体中维生素 B(12)水平显著降低。因此,我们的研究表明,素食饮食加上 FUT2 基因的多态性可能是印度维生素 B(12)缺乏症高发的重要原因。

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