rs11206244

This is a regulatory region variant variant in the DIO1 gene.

Research that mentions this SNP (2)

P‐selectin genotype is associated with the development of cancer cachexia
AssociationN=876Tan BH et al.(2012)· EMBO Molecular Medicine

Genetic association study of cancer cachexia identified 129 SNPs in 80 candidate genes in 775 cancer patients. The C allele of rs6136 in the SELP gene (encoding P-selectin) was significantly associated with reduced risk of cancer cachexia (weight loss >10%) in both the main study (OR 0.52; p=0.026) and validation cohort (OR 0.09; p=0.035). Multiple other genes including APEH, GHRL, TNFRSF1A, and CNR1 showed significant associations with cachexia-related traits.

Traits studied:Cancer cachexiaSerum P-selectin levelsWeight loss >10%Weight loss >15%Weight loss >5%Weight loss with systemic inflammation
The relationship of deiodinase 1 genotype and thyroid function to lifetime history of major depression in three independent populations
AssociationN=1,555Robert A. Philibert et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This candidate gene study examined 12 SNPs from genome-wide association studies of thyroid function in 1,555 subjects from three independent cohorts, testing associations with major depression and thyroid hormones. The authors confirmed that the DIO1 variant rs11206244 (T allele) was associated with increased free thyroxine (FT4) levels in both ethnic groups (p<0.004 in White females). Notably, rs11206244 genotype was associated with lifetime major depression in White female subjects from high-risk cohorts (p<0.004), but not in African American subjects or White males. Current FT4 levels were not associated with lifetime depression, suggesting thyroid changes in depression are state-dependent rather than trait-dependent.

Traits studied:Free thyroxine (FT4)Major depressionThyroid functionThyroid stimulating hormone (TSH)

About DIO1

The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the activation, as well as the inactivation of thyroid hormone by outer and inner ring deiodination, respectively. The activation reaction involves the conversion of the prohormone thyroxine (3,5,3',5'-tetraiodothyronine, T4), secreted by the thyroid gland, to the bioactive thyroid hormone (3,5,3'-triiodothyronine, T3) by 5'-deiodination. This protein provides most of the circulating T3, which is essential for growth, differentiation and basal metabolism in vertebrates. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2018]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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