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Functional SOCS1 polymorphisms are associated with variation in obesity in whites
Diabetes, Obesity & Metabolism
|February 14, 2009
Summary
Genetic variations in the SOCS1 promoter may influence body mass index (BMI) and obesity risk. This research identifies specific SOCS1 gene variants associated with lower BMI and altered gene regulation.
Area of Science:
- Genetics
- Endocrinology
- Metabolic Disorders
Background:
- Suppressor of cytokine signalling 1 (SOCS1) inhibits cytokine and insulin signalling, potentially impacting obesity.
- SOCS1 is a candidate gene for type 1 diabetes (T1D) and type 2 diabetes (T2D) pathogenesis.
Purpose of the Study:
- To analyze SOCS1 gene mutations.
- To investigate associations between identified SOCS1 variations and T2D-related quantitative traits, T2D, or T1D.
Main Methods:
- Mutation scanning via direct sequencing in 27 Danish subjects.
- Genotyping of over 8100 individuals using TaqMan allelic discrimination.
- Analysis of SOCS1 promoter variants in T1D families, T2D patients, and glucose-tolerant subjects.
Main Results:
- Eight variations found in the SOCS1 5' untranslated region (UTR).
- The rs33977706 polymorphism (-820G > T) associated with lower body mass index (BMI).
- Both rs33977706 and rs243330 (-1656G > A) variants linked to obesity in a larger cohort.
- rs33977706 impacted SOCS1 promoter activity and nuclear protein binding, indicating gene regulation effects.
Conclusions:
- Functional variations in the SOCS1 promoter are associated with BMI alterations in the general white population.
- These findings suggest a role for SOCS1 genetic variations in metabolic regulation and obesity.
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