Study of the Association between Constitutional Exogenous Obesity and Polymorphism of the Apolipoprotein B Gene

An attempt was made to associate the insertion–deletion (Ins/Del) polymorphism of the apolipoprotein B gene (apoB) with obesity and to identify alleles and genotypes predisposing to this disorder. The apoB Ins/Del allele frequencies observed in the Russian population were similar to those in West European populations and significantly differed from frequencies reported for Asian populations. Patients with obesity did not differ from healthy individuals in allele and genotype frequencies regardless of whether total or sex-stratified samples were compared. Estimation of relative risk for individuals with genotype Ins/Ins did not reveal a significant association between obesity and this genotype. Thus, constitutional exogenous obesity did not prove to be associated with the Ins/Del polymorphism of theapoB gene in the Russian population.     

A new mutation c.422C>G (p.S141C) in homoand heterozygous forms of the human leptin gene

Mutation g.15409C>G, n.422C>G (p.S141C) in homo-and heterozygous forms of the human LEP gene was identified among some patients of the high mountain village of Karaul, Ashkhabad oblast, Turkmenistan, some of which suffer from obesity. It causes the substitution S120C in the secreted leptin. The mature leptin molecule (146 aa) has only two Cys residues (96C and 146C) forming an S-S bridge, which is important for the hormone function. A third mutation, 120C, in the molecule might disturb the correct formation of the S-S bond and could alter the leptin activity.