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

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. and Jowett, J. B. M. 2012, Genetic variation in SH3-domain GRB2-like (endophilin)-interacting protein 1 has a major impact on fat mass, International journal of obesity, vol. 36, no. 2, pp. 201-206, doi: 10.1038/ijo.2011.67.

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Title Genetic variation in SH3-domain GRB2-like (endophilin)-interacting protein 1 has a major impact on fat mass
Author(s) 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.ORCID iD for Walder, K. R.
Zimmet, P.
Collier, G. R.
Blangero, J.
Jowett, J. B. M.
Journal name International journal of obesity
Volume number 36
Issue number 2
Start page 201
End page 206
Total pages 6
Publisher Nature Publishing Group
Place of publication London, England
Publication date 2012-02
ISSN 0307-0565
Keyword(s) genomics
Summary 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.

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.

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.

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.
Language eng
DOI 10.1038/ijo.2011.67
Field of Research 110304 Dermatology
Socio Economic Objective 920104 Diabetes
HERDC Research category C1 Refereed article in a scholarly journal
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Document type: Journal Article
Collection: School of Medicine
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