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• W2166554867 abstract "<b>Background:</b> Iodine deficiency is the commonest cause of preventable mental retardation (MR) worldwide. However, in iodine-deficient areas not everyone is affected and familial aggregation is common. This suggests that genetic factors may also contribute. Thyroid hormone (TH) plays an important role in fetal and early postnatal brain development. The pro-hormone T4 (3,3′,5,5′-triiodothyronine) is converted in the brain to its active form, T3, or its inactive metabolite, reverse T3, mainly by the action of deiodinase type 2 (DIO2). <b>Methods:</b> To investigate the potential genetic contribution of the <i>DIO2 </i>gene, we performed a case-control association study using three common SNPs in the gene (<i>rs225014</i>, <i>rs225012</i>, and <i>rs225010</i>) that were in strong linkage disequilibrium with each other. <b>Results:</b> Single marker analysis showed a positive association of MR with <i>rs225012</i> and <i>rs225010</i>. Particularly with <i>rs225012</i>, TT genotype frequency was significantly higher in MR cases than in controls (χ² = 9.18, p = 0.00246). When we compared the distributions of common haplotypes, we also found significant differences between mental retardation and controls in the haplotype combination of <i>rs225012</i> and <i>rs225010</i> (χ² = 15.04, df 2, global p = 0.000549). This association remained significant after Bonferroni correction (p = 0.0016470). <b>Conclusion:</b> We conclude that allelic variation in the <i>DIO2</i> gene may affect the amount of T3 available and in an iodine-deficient environment may partly determine overall risk of MR." @default.
• W2166554867 created "2016-06-24" @default.
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• W2166554867 date "2004-08-01" @default.
• W2166554867 modified "2023-10-18" @default.
• W2166554867 title "Positive association of the DIO2 (deiodinase type 2) gene with mental retardation in the iodine-deficient areas of China" @default.
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• W2166554867 doi "https://doi.org/10.1136/jmg.2004.019190" @default.
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