Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study
Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study
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DOI：
10.1093/hmg/11.13.1581
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发表时间：
2002-06-15
影响因子：
3.5
通讯作者：
Wareham, NJ
中科院分区：
文献类型：
--
作者：
Poulton, J;Luan, J;Wareham, NJ
线粒体DNA （mtDNA）的变异可能与2型糖尿病有关，因为ATP在胰岛素的产生和释放中起着关键作用。糖尿病可由线粒体dna突变和暴露于线粒体毒物引起。从患病母亲遗传糖尿病的风险大于从患病父亲遗传糖尿病的风险，但这并不能用由3243G:C mtDNA点突变引起的母亲遗传糖尿病和/或耳聋（MIDD）来解释，这种突变占糖尿病病例的不到0.5%。一种常见的mtDNA变体（16189变体）与空腹胰岛素呈正相关，但没有明确的研究表明它与糖尿病有关。我们在英国剑桥郡的一项基于人群的病例对照研究中证实了16189变异与2型糖尿病之间的显著关联(n=932，优势比= 1.61 (1.0-2.7，P=0.048)，这在父亲侧有糖尿病家族史的个体中被大大放大（优势比=无穷大，P < 0.001）。
Variants in mitochondrial DNA (mtDNA) could be associated with type 2 diabetes because ATP plays a critical role in the production and release of insulin. Diabetes can be precipitated both by mtDNA mutations and by exposure to mitochondrial poisons. The risk of inheriting diabetes from an affected mother is greater than that from an affected father, but this is not explained by maternally inherited diabetes and/or deafness (MIDD) caused by the 3243G:C mtDNA point mutation, which accounts for less than 0.5% of cases of diabetes. A common mtDNA variant (the 16189 variant) is positively correlated with blood fasting insulin, but there are no definitive studies demonstrating that it is associated with diabetes. We demonstrated a significant association between the 16189 variant and type 2 diabetes in a population-based case-control study in Cambridgeshire, UK (n=932, odds ratio = 1.61 (1.0-2.7, P=0.048), which was greatly magnified in individuals with a family history of diabetes from the father's side (odds ratio = infinity; P < 0.001).