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Polymorphisms in the SCD1 gene are associated with indices of stearoyl CoA desaturase activity and obesity: A prospective study

Authors

  • Gracia María Martín-Núñez,

    1. Endocrinology and Nutrition Service, Hospital Carlos Haya, Instituto de Investigación Biomédica (IBIMA), Malaga, Spain
    2. CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM) of the Instituto de Salud Carlos III, Barcelona, Spain
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  • Rebeca Cabrera-Mulero,

    1. Endocrinology and Nutrition Service, Hospital Carlos Haya, Instituto de Investigación Biomédica (IBIMA), Malaga, Spain
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  • Gemma Rojo-Martínez,

    1. Endocrinology and Nutrition Service, Hospital Carlos Haya, Instituto de Investigación Biomédica (IBIMA), Malaga, Spain
    2. CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM) of the Instituto de Salud Carlos III, Barcelona, Spain
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  • Juan Miguel Gómez-Zumaquero,

    1. Endocrinology and Nutrition Service, Hospital Carlos Haya, Instituto de Investigación Biomédica (IBIMA), Malaga, Spain
    2. CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM) of the Instituto de Salud Carlos III, Barcelona, Spain
    3. Sequencing and Genotyping Platform, Hospital Carlos Haya de Málaga, IBIMA, Malaga, Spain
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  • Felipe Javier Chaves,

    1. CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM) of the Instituto de Salud Carlos III, Barcelona, Spain
    2. Genotyping and Genetic Diagnosis Unit, Hospital Clinic Research Foundation Valencia-INCLIVA, Valencia, Spain
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  • Griselda de Marco,

    1. CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM) of the Instituto de Salud Carlos III, Barcelona, Spain
    2. Genotyping and Genetic Diagnosis Unit, Hospital Clinic Research Foundation Valencia-INCLIVA, Valencia, Spain
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  • Federico Soriguer,

    1. Endocrinology and Nutrition Service, Hospital Carlos Haya, Instituto de Investigación Biomédica (IBIMA), Malaga, Spain
    2. CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM) of the Instituto de Salud Carlos III, Barcelona, Spain
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  • Luis Castaño,

    1. CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM) of the Instituto de Salud Carlos III, Barcelona, Spain
    2. Endocrinology and Diabetes Research Group, Hospital de Cruces and University of the Basque Country UPV-EHU, Barakaldo, Spain
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  • Sonsoles Morcillo

    Corresponding author
    1. CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM) of the Instituto de Salud Carlos III, Barcelona, Spain
    2. Endocrinology and Diabetes Research Group, Hospital de Cruces and University of the Basque Country UPV-EHU, Barakaldo, Spain
    • Correspondence: Dr. Sonsoles Morcillo, Laboratorio de Genética Molecular, Hospital de Cruces, Unidad de Investigación, Pza. de Cruces, S/N, 48903-Cruces (Barakaldo) Bizkaia, Spain

      E-mail: Sonsoles75@gmail.com

      Fax: +34-946006000

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Abstract

Scope

The serum fatty acid (FA) composition is influenced by dietary fat and the endogenous production of FAs. Stearoyl CoA desaturase 1 (SCD1) is the rate-limiting enzyme catalyzing the synthesis of MUFAs from saturated FAs. Variations in SCD1 activity have been associated with obesity, diabetes, or inflammation. We evaluated the associations between genetic variation of the SCD1 gene, SCD1 activity, intake of oil, and obesity in a population-based prospective study in southern Spain.

Methods and results

We collected phenotypic, metabolic, nutritional, and genetic information. The type of dietary fat was assessed from samples of cooking oil taken from the participants’ kitchens and analyzed by GC. A total of nine single nucleotide polymorphisms (SNPs) of the SCD1 gene were analyzed by SNPlex technology. We found a significant association between SCD1 genetic variation and enzyme activity in four of nine polymorphisms studied. An interaction between rs10883463 and olive oil intake on the [18:1/18:0] desaturase index was found (p = 0.009). We also showed that genetic variations in the SCD1 gene were associated with obesity.

Conclusion

Our results show a relationship between genetic variation of the SCD1 gene, enzyme activity, and the risk of obesity, an association that is not independent of the type of oil consumed.

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