Relationship of short tandem repeats flanking leptin-melanocortin pathway genes with anthropometric profile and leptinemia in Brazilian individuals

Abstract

Objective: To investigate the relationship of short tandem repeats (STR) near genes involved in the leptin-melanocortin pathway with body mass index (BMI) and leptinemia. Subjects and methods: Anthropometric variables and leptinemia were measured in 100 obese and 110 nonobese individuals. D1S200, D2S1788, DS11912, and D18S858 loci were analyzed by PCR and high-resolution electrophoresis. Results: Overall STR allele frequencies were similar between the obese and non-obese group (p > 0.05). Individual alleles D1S200 (17), D11S912 (43), D18S858 (11/12) were associated with obesity (p < 0.05). Individuals carrying these alleles showed higher BMI than non-carriers (p < 0.05). Moreover, a relationship between D18S858 11/12 alleles and increased waist circumference was found (p = 0.040). On the other hand, leptinemia was not influenced by the studied STRs (p > 0.05). Conclusions: D1S200, D11S912, and D18S858 loci are associated with increased BMI and risk for obesity in this sample. Arq Bras Endocrinol Metab. 2012;56(1):47-53Keywords STR; obesity; body mass index; letpin RESUMO Objetivo: Investigar a relação de short tandem repeats (STR) em genes envolvidos na via da leptina-melanocortina com índice de massa corporal (IMC) e leptinemia. Sujeitos e métodos: Variáveis antropométricas e leptinemia foram medidas em 100 indivíduos obesos e 110 não obesos. Os loci D1S200, D2S1788, DS11912 e D18S858 foram analisados por PCR e eletroforese de alta resolução. Resultados: As frequências globais dos alelos da STR foram similares entre os grupos obeso e não obeso (p > 0,05). Alelos individuais de D1S200 (17), D11S912 (43), D18S858 (11/12) foram associados com obesidade (p < 0,05). Indivíduos portadores desses alelos apresentaram valores de IMC maiores que os dos não portadores (p < 0,05). Além disso, a presença dos alelos D18S858 11/12 foi relacionada com circunferência abdominal elevada (p = 0,040). Por outro lado, a leptinemia não foi influenciada pelos STRs estudados (p > 0,05). Conclusões: Os loci D1S200, D11S912 e D18S858 são associados com IMC aumentado e risco de obesidade nesta amostra populacional. Arq Bras Endocrinol Metab. 2012;56(1):47-53 Descritores STR; obesidade; índice de massa corporal; leptina

The association of insertions/deletions (INDELs) and variable number tandem repeats (VNTRs) with obesity and its related traits and complications

“…The LEPR D1S200 17 allele was associated with increased susceptibility to obesity and increased BMI, WC, and WHR in Brazilian individuals [57]. Other STRs flanking LEPR by approximately 9 and 3 cM, such as D1S3728 and D1S1665, were proposed to contribute to plasma leptin concentrations, adiposity, and body weight in individuals with dyslipidemia [58].…”

“…This VNTR was also associated with plasma leptin levels in French [64], African-American [65], and Hispanic populations [66], but not in Brazilians [57]. This VNTR has also been associated with BMI in the Framingham Heart Study families [67].…”

“…The D18S858 11/12 allele was also associated with increased BMI and WC in Brazilian subjects [57]. This locus was also found to be related to other obesity-related complications, like systolic BP (SBP) [82] and cancer [83].…”

“…D11S912 and other STRs flanking UCP2 and UCP3 showed some evidence of linkage with obesity and BMI [4, 81]. The 43 allele of D11S912 STR was associated with increased risk for obesity in Brazilians [57], consistent with a genome-wide linkage scan study in the Framingham Heart Study families [4]. Campbell et al reported allelic association between D11S911 and anorexia nervosa (AN) and hypothesized that this may reflect differences in metabolic rate between patients with AN and controls [85].…”

Relação de polimorfismos nos genes da perilipina 1, visfatina, resistina e grelina com a resposta a um programa de orientação nutricional para a redução de peso corporal

“…Polimorfismos comuns no LEPR foram relacionados com adiposidade e alterações metabólicas em obesos (Oliveira et al, 2013). Também foi observada relação de regiões hipervariáveis próximas à genes da via da Leptinamelanocortina com perfil antropomêtrico e alterações metabólicas em brasileiros (Hinuy et al, 2012).…”