Positive association of the DIO2 (deiodinase type 2) gene with mental retardation in the iodine-deficient areas of China.

ABSTRACT:

Background

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).

Methods

To investigate the potential genetic contribution of the DIO2 gene, we performed a case-control association study using three common SNPs in the gene (rs225014, rs225012, and rs225010) that were in strong linkage disequilibrium with each othe

SUBMITTER: Guo TW 

PROVIDER: S-EPMC1735866 | biostudies-literature | 2004 Aug

REPOSITORIES: biostudies-literature