title: A family-based association study of DIO2 and children mental retardation in the Qinba region of China.
abstract: Deiodinase enzyme II (DIO2) has an important role in individuals' thyroid hormones' level, the development of central and peripheral nervous systems and characterized by mental retardation (MR). The DIO2 gene was genotyped by using five haplotype-tagging single-nucleotide polymorphisms (SNPs) in 157 Chinese MR high-density family pedigrees, including 452 nuclear families and >1460 persons. The single marker and haplotype analyses were performed by Family-based Association Tests (FBAT). Three SNPs had P-values <0.05 in at least one inherited model survived with the correction. Several haplotypes composed of these SNPs were also associated with MR. The in silico analyses identified that one of the SNPs, rs1388378, may be a functional SNP. However, further in vitro studies of this SNP should be considered in elucidating its effect on gene expression and the possible role in MR susceptibility.
authors: Key Laboratory of Resource Biology and Biotechnology in Western China, Ministry of Education, College of Life Science, Institute of Population and Health, Northwest University, Xi'an, China.
authors: Kejin
authors: K
authors: Zhang
authors: Heng
authors: H
authors: Xi
authors: Xiying
authors: X
authors: Wang
authors: Yale
authors: Y
authors: Guo
authors: Shaoping
authors: S
authors: Huang
authors: Zijian
authors: Z
authors: Zheng
authors: Fuchang
authors: F
authors: Zhang
authors: Xiaocai
authors: X
authors: Gao
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002681:China; D005190:Family; D056726:Genetic Association Studies; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology* / Q000235:genetics*; D007453:Iodide Peroxidase / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D000097564:Iodothyronine Deiodinase Type II
chemical_list: D005819:Genetic Markers; D007453:Iodide Peroxidase; D000097564:Iodothyronine Deiodinase Type II