Genetic variation in SH3-domain GRB2-like (endophilin)-interacting protein 1 has a major impact on fat mass

Objective: The SH3-domain GRB2-like (endophilin)-interacting protein 1 ( SGIP1 ) gene has been shown to be differentially expressed in the hypothalamus of lean versus obese Israeli sand rats ( Psammomys obesus ), and is suspected of having a role in regulating food intake. The purpose of this study...

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Veröffentlicht in:International Journal of Obesity 2012-02, Vol.36 (2), p.201-206
Hauptverfasser: Cummings, N, Shields, K A, Curran, J E, Bozaoglu, K, Trevaskis, J, Gluschenko, K, Cai, G, Comuzzie, A G, Dyer, T D, Walder, K R, Zimmet, P, Collier, G R, Blangero, J, Jowett, J B M
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container_end_page 206
container_issue 2
container_start_page 201
container_title International Journal of Obesity
container_volume 36
creator Cummings, N
Shields, K A
Curran, J E
Bozaoglu, K
Trevaskis, J
Gluschenko, K
Cai, G
Comuzzie, A G
Dyer, T D
Walder, K R
Zimmet, P
Collier, G R
Blangero, J
Jowett, J B M
description Objective: The SH3-domain GRB2-like (endophilin)-interacting protein 1 ( SGIP1 ) gene has been shown to be differentially expressed in the hypothalamus of lean versus obese Israeli sand rats ( Psammomys obesus ), and is suspected of having a role in regulating food intake. The purpose of this study was to assess the role of genetic variation in SGIP1 in human disease. Subjects: We performed single-nucleotide polymorphism (SNP) genotyping in a large family pedigree cohort from the island of Mauritius. The Mauritius Family Study (MFS) consists of 400 individuals from 24 Indo-Mauritian families recruited from the genetically homogeneous population of Mauritius. We measured markers of the metabolic syndrome, including diabetes and obesity-related phenotypes such as fasting plasma glucose, waist:hip ratio, body mass index and fat mass. Results: Statistical genetic analysis revealed associations between SGIP1 polymorphisms and fat mass (in kilograms) as measured by bioimpedance. SNP genotyping identified associations between several genetic variants and fat mass, with the strongest association for rs2146905 ( P =4.7 × 10 −5 ). A strong allelic effect was noted for several SNPs where fat mass was reduced by up to 9.4% for individuals homozygous for the minor allele. Conclusions: Our results show association between genetic variants in SGIP1 and fat mass. We provide evidence that variation in SGIP1 is a potentially important determinant of obesity-related traits in humans.
doi_str_mv 10.1038/ijo.2011.67
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The purpose of this study was to assess the role of genetic variation in SGIP1 in human disease. Subjects: We performed single-nucleotide polymorphism (SNP) genotyping in a large family pedigree cohort from the island of Mauritius. The Mauritius Family Study (MFS) consists of 400 individuals from 24 Indo-Mauritian families recruited from the genetically homogeneous population of Mauritius. We measured markers of the metabolic syndrome, including diabetes and obesity-related phenotypes such as fasting plasma glucose, waist:hip ratio, body mass index and fat mass. Results: Statistical genetic analysis revealed associations between SGIP1 polymorphisms and fat mass (in kilograms) as measured by bioimpedance. SNP genotyping identified associations between several genetic variants and fat mass, with the strongest association for rs2146905 ( P =4.7 × 10 −5 ). A strong allelic effect was noted for several SNPs where fat mass was reduced by up to 9.4% for individuals homozygous for the minor allele. Conclusions: Our results show association between genetic variants in SGIP1 and fat mass. 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A strong allelic effect was noted for several SNPs where fat mass was reduced by up to 9.4% for individuals homozygous for the minor allele. Conclusions: Our results show association between genetic variants in SGIP1 and fat mass. 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The purpose of this study was to assess the role of genetic variation in SGIP1 in human disease. Subjects: We performed single-nucleotide polymorphism (SNP) genotyping in a large family pedigree cohort from the island of Mauritius. The Mauritius Family Study (MFS) consists of 400 individuals from 24 Indo-Mauritian families recruited from the genetically homogeneous population of Mauritius. We measured markers of the metabolic syndrome, including diabetes and obesity-related phenotypes such as fasting plasma glucose, waist:hip ratio, body mass index and fat mass. Results: Statistical genetic analysis revealed associations between SGIP1 polymorphisms and fat mass (in kilograms) as measured by bioimpedance. SNP genotyping identified associations between several genetic variants and fat mass, with the strongest association for rs2146905 ( P =4.7 × 10 −5 ). A strong allelic effect was noted for several SNPs where fat mass was reduced by up to 9.4% for individuals homozygous for the minor allele. Conclusions: Our results show association between genetic variants in SGIP1 and fat mass. We provide evidence that variation in SGIP1 is a potentially important determinant of obesity-related traits in humans.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>21407171</pmid><doi>10.1038/ijo.2011.67</doi><tpages>6</tpages></addata></record>
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1476-5497
language eng
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source MEDLINE; Nature; EZB-FREE-00999 freely available EZB journals; SpringerLink Journals - AutoHoldings
subjects Adult
Aged
Aged, 80 and over
Alpha-Ketoglutarate-Dependent Dioxygenase FTO
Animals
Biological and medical sciences
Biomedical research
Body Composition - genetics
Body mass index
Carrier Proteins - genetics
Cohort Studies
Diabetes
Diabetes Mellitus, Type 2 - genetics
Eating - genetics
Epidemiology
Family studies
Female
Food
Genes
Genetic aspects
Genetic diversity
Genetic Predisposition to Disease
Genetic variance
Genomes
Genomics
Health Promotion and Disease Prevention
Homeostasis
Humans
Hypothalamus
Internal Medicine
International organizations
Male
Mauritius - epidemiology
Medical sciences
Medicine
Medicine & Public Health
Metabolic Diseases
Metabolic disorders
Metabolic syndrome
Metabolic Syndrome - epidemiology
Metabolic Syndrome - genetics
Middle Aged
Obesity
Obesity - epidemiology
Obesity - genetics
original-article
Pedigree
Phenotype
Physiological aspects
Polymorphism
Polymorphism, Single Nucleotide
Prevalence
Proteins
Proteins - genetics
Public Health
Rats
Risk factors
Sand
Single nucleotide polymorphisms
src Homology Domains - genetics
Young Adult
title Genetic variation in SH3-domain GRB2-like (endophilin)-interacting protein 1 has a major impact on fat mass
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