Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information

Human Genetics(2019)

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摘要
Metabolic syndrome is a complex human disorder characterized by a cluster of conditions (increased blood pressure, hyperglycemia, excessive body fat around the waist, and abnormal cholesterol or triglyceride levels). Any of these conditions increases the risk of serious disorders such as diabetes or cardiovascular disease. Currently, the degree of genetic regulation of this syndrome is under debate and partially unknown. The principal aim of this study was to estimate the genetic component and the common environmental effects in different populations using full pedigree and genomic information. We used three large populations (Gubbio, ARIC, and Ogliastra cohorts) to estimate the heritability of metabolic syndrome. Due to both pedigree and genotyped data, different approaches were applied to summarize relatedness conditions. Linear mixed models (LLM) using average information restricted maximum likelihood (AIREML) algorithm were applied to partition the variances and estimate heritability ( h 2 ) and common sib–household effect ( c 2 ). Globally, results obtained from pedigree information showed a significant heritability ( h 2 : 0.286 and 0.271 in Gubbio and Ogliastra, respectively), whereas a lower, but still significant heritability was found using SNPs data ( h_SNP^2 : 0.167 and 0.254 in ARIC and Ogliastra). The remaining heritability between h 2 and h_SNP^2 ranged between 0.031 and 0.237. Finally, the common environmental c 2 in Gubbio and Ogliastra were also significant accounting for about 11
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