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Overweight condition and waist circumference and a candidate gene within the 12q24 locus

AIMS: Obesity and obesity-associated phenotypes are linked to the chromosome12q24 locus, the non-insulin-dependent-diabetes 2 (NIDDM2) locus. The gene of proteasome modulator 9 (PSMD9) lies in the NIDDM2 region and is linked to type 2 diabetes (T2D), microvascular and macrovascular complications of...

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Autor principal: Gragnoli, Claudia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3583708/
https://www.ncbi.nlm.nih.gov/pubmed/23282078
http://dx.doi.org/10.1186/1475-2840-12-2
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author Gragnoli, Claudia
author_facet Gragnoli, Claudia
author_sort Gragnoli, Claudia
collection PubMed
description AIMS: Obesity and obesity-associated phenotypes are linked to the chromosome12q24 locus, the non-insulin-dependent-diabetes 2 (NIDDM2) locus. The gene of proteasome modulator 9 (PSMD9) lies in the NIDDM2 region and is linked to type 2 diabetes (T2D), microvascular and macrovascular complications of T2D. We aimed at studying whether the PSMD9 T2D risk single nucleotide polymorphisms (SNPs) IVS3+nt460, IVS3+nt437, and 197G are linked to obesity, overweight status and waist circumference in Italian T2D families. METHODS AND RESULTS: We screened 200 Italians T2D siblings/families for PSMD9 variants. Using Merlin software, we performed non-parametric linkage analysis to test for linkage with obesity and overweight condition and variance component analysis to test for linkage with waist circumference in our T2D siblings/families dataset. Our study shows that the PSMD9 SNPs IVS3+nt460, IVS3+nt437, and 197G are in linkage with overweight condition and waist circumference in Italians. The statistical power tests performed via simulations on real data confirm that the results are not due to random chance. CONCLUSIONS: In summary, the linkage strategy using a homogeneous family/subject dataset can identify a gene contributing to a complex trait. PMSD9 may be at least one of the genes responsible for the linkage to obesity and obesity-associated phenotypes at the locus 12q24 in other populations.
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spelling pubmed-35837082013-02-28 Overweight condition and waist circumference and a candidate gene within the 12q24 locus Gragnoli, Claudia Cardiovasc Diabetol Original Investigation AIMS: Obesity and obesity-associated phenotypes are linked to the chromosome12q24 locus, the non-insulin-dependent-diabetes 2 (NIDDM2) locus. The gene of proteasome modulator 9 (PSMD9) lies in the NIDDM2 region and is linked to type 2 diabetes (T2D), microvascular and macrovascular complications of T2D. We aimed at studying whether the PSMD9 T2D risk single nucleotide polymorphisms (SNPs) IVS3+nt460, IVS3+nt437, and 197G are linked to obesity, overweight status and waist circumference in Italian T2D families. METHODS AND RESULTS: We screened 200 Italians T2D siblings/families for PSMD9 variants. Using Merlin software, we performed non-parametric linkage analysis to test for linkage with obesity and overweight condition and variance component analysis to test for linkage with waist circumference in our T2D siblings/families dataset. Our study shows that the PSMD9 SNPs IVS3+nt460, IVS3+nt437, and 197G are in linkage with overweight condition and waist circumference in Italians. The statistical power tests performed via simulations on real data confirm that the results are not due to random chance. CONCLUSIONS: In summary, the linkage strategy using a homogeneous family/subject dataset can identify a gene contributing to a complex trait. PMSD9 may be at least one of the genes responsible for the linkage to obesity and obesity-associated phenotypes at the locus 12q24 in other populations. BioMed Central 2013-01-03 /pmc/articles/PMC3583708/ /pubmed/23282078 http://dx.doi.org/10.1186/1475-2840-12-2 Text en Copyright ©2013 Gragnoli; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Investigation
Gragnoli, Claudia
Overweight condition and waist circumference and a candidate gene within the 12q24 locus
title Overweight condition and waist circumference and a candidate gene within the 12q24 locus
title_full Overweight condition and waist circumference and a candidate gene within the 12q24 locus
title_fullStr Overweight condition and waist circumference and a candidate gene within the 12q24 locus
title_full_unstemmed Overweight condition and waist circumference and a candidate gene within the 12q24 locus
title_short Overweight condition and waist circumference and a candidate gene within the 12q24 locus
title_sort overweight condition and waist circumference and a candidate gene within the 12q24 locus
topic Original Investigation
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3583708/
https://www.ncbi.nlm.nih.gov/pubmed/23282078
http://dx.doi.org/10.1186/1475-2840-12-2
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