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首页> 外文期刊>Diabetes care >ABC transporter genes and risk of type 2 diabetes: A study of 40,000 individuals from the general population
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ABC transporter genes and risk of type 2 diabetes: A study of 40,000 individuals from the general population

机译：ABC转运蛋白基因与2型糖尿病的风险：一项针对40,000个人的研究

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OBJECTIVE - Alterations of pancreatic b-cell cholesterol content may contribute to β-cell dysfunction. Two important determinants of intracellular cholesterol content are the ATP-binding cassette (ABC) transporters A1 (ABCA1) and -G1 (ABCG1).Whether genetic variation in ABCA1 and ABCG1 predicts risk of type 2 diabetes in the general population is unknown. RESEARCH DESIGN AND METHODS - We tested whether genetic variation in the promoter and coding regions of ABCA1 and ABCG1 predicted risk of type 2 diabetes in the general population. Twenty-seven variants, identified by previous resequencing of both genes, were genotyped in the Copenhagen City Heart Study (CCHS) (n = 10,185). Two loss-of-function mutations (ABCA1 N1800H and ABCG1 g.-376C>T) (n = 322) and a common variant (ABCG1 g.-530A>G) were further genotyped in the Copenhagen General Population Study (CGPS) (n = 30,415). RESULTS - Only one of the variants examined, ABCG1 g.-530A>G, predicted a decreased risk of type 2 diabetes in the CCHS (P for trend = 0.05). Furthermore, when validated in the CGPS or in the CCHS and CGPS combined (n = 40,600), neither the two loss-of-function mutations (ABCA1 N1800H, ABCG1 g.-376C>T) nor ABCG1 g.-530A>G were associated with type 2 diabetes (P values >0.57 and >0.30, respectively). CONCLUSIONS - Genetic variations in ABCA1 and ABCG1 were not associated with increased risk of type 2 diabetes in the general population. These data were obtained in general population samples harboring the largest number of heterozygotes for loss-of-function mutations in ABCA1 and ABCG1.
机译：目的-胰腺b细胞胆固醇含量的改变可能导致β细胞功能障碍。胞内胆固醇含量的两个重要决定因素是ATP结合盒（ABC）转运蛋白A1（ABCA1）和-G1（ABCG1）.ABCA1和ABCG1的遗传变异是否预测了普通人群中2型糖尿病的风险。研究设计与方法-我们测试了ABCA1和ABCG1启动子和编码区的遗传变异是否可预测普通人群中2型糖尿病的风险。在哥本哈根市心脏研究（CCHS）中对两个基因的先前变异进行鉴定的27个变体进行了基因分型（n = 10,185）。在哥本哈根总人口研究（CGPS）中进一步对两个功能丧失突变（ABCA1 N1800H和ABCG1 g.-376C> T）（n = 322）和一个常见变异体（ABCG1 g.-530A> G）进行了基因分型（ n = 30,415）。结果-仅检查的一种变体ABCG1 g.-530A> G预测CCHS中2型糖尿病的风险降低（趋势P = 0.05）。此外，当在CGPS或CCHS和CGPS组合中进行验证（n = 40,600）时，两个功能丧失突变（ABCA1 N1800H，ABCG1 g.-376C> T）和ABCG1 g.-530A> G都不是与2型糖尿病相关（分别P值> 0.57和> 0.30）。结论-普通人群中ABCA1和ABCG1的遗传变异与2型糖尿病风险增加无关。这些数据是在具有最大数量杂合子的普通人群样本中获得的，这些杂合子是ABCA1和ABCG1中功能丧失突变的原因。

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