population sequencing of two endocannabinoid metabolic genes identifies rare and common regulatory variants associated with extreme obesity and metabolite level人口两个神经代谢基因的测序识别罕见的、共同监管变异与极端肥胖和代谢产物的水平.pdfVIP

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2017-09-11 发布于上海
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population sequencing of two endocannabinoid metabolic genes identifies rare and common regulatory variants associated with extreme obesity and metabolite level人口两个神经代谢基因的测序识别罕见的、共同监管变异与极端肥胖和代谢产物的水平.pdf

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population sequencing of two endocannabinoid metabolic genes identifies rare and common regulatory variants associated with extreme obesity and metabolite level人口两个神经代谢基因的测序识别罕见的、共同监管变异与极端肥胖和代谢产物的水平

Harismendy et al. Genome Biology 2010, 11:R118 /2010/11/11/R118 RESEARCH Open Access Population sequencing of two endocannabinoid metabolic genes identifies rare and common regulatory variants associated with extreme obesity and metabolite level 1,2† 3† 4 1,2 5 1,2 Olivier Harismendy , Vikas Bansal , Gaurav Bhatia , Masakazu Nakano , Michael Scott , Xiaoyun Wang , 6 6 5 3 6 4,7 Colette Dib , Edouard Turlotte , Jack C Sipe , Sarah S Murray , Jean Francois Deleuze , Vineet Bafna , Eric J Topol3,5, Kelly A Frazer1,2,7* Abstract Background: Targeted re-sequencing of candidate genes in individuals at the extremes of a quantitative phenotype distribution is a method of choice to gain information on the contribution of rare variants to disease susceptibility. The endocannabinoid system mediates signaling in the brain and peripheral tissues involved in the regulation of energy balance, is highly active in obese patients, and represents a strong candidate pathway to examine for genetic association with body mass index (BMI). Results: We sequenced two intervals (covering 188 kb) encoding the endocannabinoid metabolic enzymes fatty- acid amide hydrolase (FAAH) and monoglyceride lipase (MGLL) in 147 normal controls and 142 extremely obese cases. After applying quality filters, we called 1,393 high quality single nucleotide variants, 55% of which are rare, and 143 indels. Using single marker tests and collapsed marker tests, we identified four intervals associated with BMI: the FAAH promoter, the MGLL promoter, MGLL intron 2, and MGLL intron 3. Two