کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2812136 1569299 2007 13 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Medical Sequencing at the Extremes of Human Body Mass
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Medical Sequencing at the Extremes of Human Body Mass
چکیده انگلیسی

Body weight is a quantitative trait with significant heritability in humans. To identify potential genetic contributors to this phenotype, we resequenced the coding exons and splice junctions of 58 genes in 379 obese and 378 lean individuals. Our 96-Mb survey included 21 genes associated with monogenic forms of obesity in humans or mice, as well as 37 genes that function in body weight–related pathways. We found that the monogenic obesity–associated gene group was enriched for rare nonsynonymous variants unique to the obese population compared with the lean population. In addition, computational analysis predicted a greater fraction of deleterious variants within the obese cohort. Together, these data suggest that multiple rare alleles contribute to obesity in the population and provide a medical sequencing-based approach to detect them.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: - Volume 80, Issue 4, April 2007, Pages 779–791
نویسندگان
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