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   A copy number variant on chromosome 20q13.3 implicated in thinness and severe obesity  
   
نویسنده hasstedt s.j. ,xin y. ,mao r. ,lewis t. ,adams t.d. ,hunt s.c.
منبع journal of obesity - 2015 - دوره : 2015 - شماره : 0
چکیده    Background/objectives. to identify copy number variants (cnvs) which are associated with body mass index (bmi). subjects/methods. cnvs were identified using array comparative genomic hybridization (acgh) on members of pedigrees ascertained through severely obese (bmi ≥ 35 kg/m2) sib pairs (86 pedigrees) and thin (bmi ≤ 23 kg/m2) probands (3 pedigrees). association was inferred through pleiotropy of bmi with cnv log 2 intensity ratio. results. a 77-kilobase cnv on chromosome 20q13.3,confirmed by real-time qpcr,exhibited deletions in the obese subjects and duplications in the thin subjects (p=2.2×10-6). further support for the presence of a deletion derived from inference by likelihood analysis of null alleles for snps residing in the region. conclusions. one or more of 7 genes residing in a chromosome 20q13.3 cnv region appears to influence bmi. the strongest candidate is arfrp1,which affects glucose metabolism in mice. © 2015 sandra j. hasstedt et al.
آدرس department of human genetics,university of utah school of medicine,salt lake city, United States, cardiovascular genetics division,university of utah school of medicine,salt lake city, United States, department of pathology,university of utah school of medicine,salt lake city,ut,united states,arup institute for clinical and experimental pathology,salt lake city, United States, arup institute for clinical and experimental pathology,salt lake city, United States, cardiovascular genetics division,university of utah school of medicine,salt lake city, United States, cardiovascular genetics division,university of utah school of medicine,salt lake city,ut,united states,department of genetic medicine,weill cornell medical college in qatar, Qatar
 
     
   
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