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Association of the G‐2548A polymorphism in the 5′ region of the LEP gene with overweight
Author(s) -
MAMMÈS O.,
BETOULLE D.,
AUBERT R.,
HERBETH B.,
SIEST G.,
FUMERON F.
Publication year - 2000
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1046/j.1469-1809.2000.6450391.x
Subject(s) - overweight , obesity , allele , leptin , genotype , medicine , population , body mass index , allele frequency , mendelian inheritance , locus (genetics) , biology , genetics , endocrinology , gene , environmental health
Mutations in the translated part of the leptin gene ( LEP ) have been found in only two families. Nevertheless DNA polymorphisms in the LEP region are linked to extreme obesity. We previously found in the 5′ region of LEP a polymorphism, G‐2548A, associated with a difference in BMI reduction following a low calorie diet in overweight women. Recently, this polymorphism was associated with extreme obesity in women. In this work, we genotyped a new sample from the general population including 314 normal weight (BMI < 27 kg/m 2 ) and 109 overweight subjects (BMI ≥ 27 kg/m 2 ). The genotype and allele frequencies were significantly different between groups, with the G‐2548 allele being more frequent in the overweight subjects ( p < 0.01). In men, carriers of this allele had lower leptin concentrations adjusted for fat mass ( p = 0.05). Our results indicate that variations at the leptin locus are associated with common obesity phenotypes, and not only with extreme obesity or the rare mendelian obesity syndromes.