Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits
Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits
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DOI：
10.1016/j.ajhg.2018.12.001
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发表时间：
2019-01-03
影响因子：
9.8
通讯作者：
North, Kari E.
中科院分区：
文献类型：
--
作者：
Kraja, Aldi T.;Liu, Chunyu;North, Kari E.
Mitochondria (MT), the major site of cellular energy production, are under dual genetic control by 37 mitochondrial DNA (mtDNA) genes and numerous nuclear genes (MT-nDNA). In the CHARGEmtDNA+ Consortium, we studied genetic associations of mtDNA and MT-nDNA associations with body mass index (BMI), waist-hip-ratio (WHR), glucose, insulin, HOMA-B, HOMA-IR, and HbA1c. This 45-cohort collaboration comprised 70,775 (insulin) to 170,202 (BMI) pan-ancestry individuals. Validation and imputation of mtDNA variants was followed by single-variant and gene-based association testing. We report two significant common variants, one in MT-ATP6 associated (p
