2017
DOI: 10.1016/j.ymgme.2017.03.007
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Next-generation sequencing of the monogenic obesity genes LEP , LEPR , MC4R , PCSK1 and POMC in a Norwegian cohort of patients with morbid obesity and normal weight controls

Abstract: Four cases (0.8%) of monogenic obesity were detected, all due to MC4R variants previously linked to monogenic obesity. Significant differences in carrier frequencies among patients with morbid obesity and normal weight controls suggest an association between heterozygous rare coding variants in these five genes and morbid obesity. However, additional studies in larger cohorts and functional testing of the novel variants identified are required to confirm the findings.

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Cited by 53 publications
(53 citation statements)
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“…14 The mutation is very rare and reported in only 7 of 123,034 individuals in the Genome Aggregation Database (gnomAD), where 6 of these are of European origin and the last carrier is East Asian. 15 The variant has previously been reported in relation to extreme and early onset obesity, mostly in Europeans, 2,4,12,16 but also in Pima Indians. 17 Anthropometrics and Blood Analyses Before and After Liraglutide Treatment During 16 weeks of liraglutide treatment, the patient lost a total of 9.7 kg (from 152.2 kg to 142.5 kg).…”
Section: Genetic Characteristicsmentioning
confidence: 93%
“…14 The mutation is very rare and reported in only 7 of 123,034 individuals in the Genome Aggregation Database (gnomAD), where 6 of these are of European origin and the last carrier is East Asian. 15 The variant has previously been reported in relation to extreme and early onset obesity, mostly in Europeans, 2,4,12,16 but also in Pima Indians. 17 Anthropometrics and Blood Analyses Before and After Liraglutide Treatment During 16 weeks of liraglutide treatment, the patient lost a total of 9.7 kg (from 152.2 kg to 142.5 kg).…”
Section: Genetic Characteristicsmentioning
confidence: 93%
“…This means that disease causative alleles are likely to be enriched or become specific to few ethnic groups, increasing their risk towards the disease. Other factors like economic background, diet, psychological stress and accessible medical care also influence the development of obesity ( Jiao et al, 2015 , McPherson et al, 2014 , Nielsen et al, 2015 , Nordang et al, 2017 ).…”
Section: Geneticsmentioning
confidence: 99%
“…PCSK1 has a crucial importance on the appetite and metabolism regulation, as the protein (PC1/3) coded by PCSK1 converts the proteins of proinsulin and proglucagon to their active biological forms (Rouillé et al, 1997). Genetic variations in PCSK1 have been associated, although heavily debated, with sensitivity to obesity and in particular childhood obesity, severe obesity and race (Choquet & Meyre, 2011;Choquet et al, 2013;Kulanuwat et al, 2014;Dušátková et al, 2015;Kulanuwat et al, 2015;Nordang et al, 2017). In relation to AIWG, the presence of a catecholamine like dopamine or antipsychotics like haloperidol has shown to influence the levels of PC1/3 and could point towards a possible connection with AIWG not yet discovered (Day et al, 1992;Oyarce et al, 1996;Helwig et al, 2011).…”
Section: Discussionmentioning
confidence: 99%