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- W2885361572 endingPage "449" @default.
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- W2885361572 abstract "The worldwide prevalence of obesity, a major risk factor for numerous debilitating chronic disorders, is increasing rapidly. Although a substantial amount of the variation in body mass index (BMI) is estimated to be heritable, the largest meta-analysis of genome-wide association studies (GWAS) to date explained only ~2.7% of the variation. To tackle this 'missing heritability' problem of obesity, here we focused on the contribution of DNA repeat length polymorphisms which are not detectable by GWAS.We determined the cytosine-adenine-guanine (CAG) repeat length in the nine known polyglutamine disease-associated genes (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, HTT, ATN1 and AR) in two large cohorts consisting of 12,457 individuals and analyzed their association with BMI, using generalized linear mixed-effect models.We found a significant association between BMI and the length of CAG repeats in seven polyglutamine disease-associated genes (including ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP and AR). Importantly, these repeat variations could account for 0.75% of the total BMI variation.Our findings incriminate repeat polymorphisms as an important novel class of genetic risk factors of obesity and highlight the role of the brain in its pathophysiology." @default.
- W2885361572 created "2018-08-22" @default.
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- W2885361572 date "2018-08-17" @default.
- W2885361572 modified "2023-10-15" @default.
- W2885361572 title "Repeat length variations in polyglutamine disease-associated genes affect body mass index" @default.
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- W2885361572 doi "https://doi.org/10.1038/s41366-018-0161-7" @default.
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- W2885361572 hasPublicationYear "2018" @default.
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