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Endocrine Abstracts (2013) 32 P737 | DOI: 10.1530/endoabs.32.P737

1Research Foundation of University Clinic Hospital–INCLIVA, Valencia, Spain; 2Rio Hortega University Hospital, Valladolid, Spain; 3Carlos Haya Universitary Hospital, Málaga, Spain; 4CIBER of Diabetes and Associated Metabolic Diseases (CIBERDEM), Barcelona, Spain; 5Biomedical Research Foundation of the University Clinic Hospital San Carlos, Madrid, Spain; 6CIBER actions – Epidemiology and Public Health, Madrid, Spain; 7Center for Public Health Research (CSIP), University of Valencia, Valencia, Spain; 8University Clinic Hospital of Valencia, Valencia, Spain; 9Institute of Health Carlos III, Ministery of Health, Valencia, Spain.


Objective: To study the association between genes codifying for mitochondrial respiratory chain (MRC) subunits and BMI and obesity as well as the impact on the risk to develop type 2 diabetes in the general population from Spain.

Research design and methods: Three thousand seven hundred and thirty-one subjects (age range 21–89) from three different population-based studies of Spain, were studied. Forty-eight single nucleotide polymorphisms (SNPs) of chromosomal genes which codify MRC proteins were selected and processed by the SNPlex method.

Results: Significant associations were observed between polymorphisms rs4600063 (SDHC gene), rs11205591 (NDUFS5 gene), rs10891319 (SDHD gene) and BMI (P value=0.04, 0.0011 and 0.0004 respectively) and obesity risk (OR=0.72, P value=0.0072; OR=0.72, P=0.039 and OR=1.25, P=0.0038 respectively). In addition, polymorphisms rs11205591 and rs10891319, showed a significant epistatic interaction for BMI levels and obesity risk. Finally, the GG genotype of rs11205591 polymorphism significantly reduced the risk of being diabetic after including age and sex as covariables (OR=0.32, 0.17–0.62; P value=0.0001), and BMI (OR=0.37, 0.19–0.72; P value=0.0008).

Conclusions: Polymorphisms of genes codifying MRC can be involved in BMI variation and can be related to the risk for being obese in the Spanish general population. Furthermore, the rs11205591 (NDUFS5 gene) polymorphism might contribute to the risk to develop type 2 diabetes.

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