A Family-based Association Study of DIO2 and children mental retardation in the Qinba region of China

被引：10

作者：

Zhang, Kejin ^{[1
]}

Xi, Heng ^{[1
,2
]}

Wang, Xiying ^{[1
]}

Guo, Yale ^{[3
]}

Huang, Shaoping ^{[3
]}

Zheng, Zijian ^{[2
]}

Zhang, Fuchang ^{[1
,2
]}

Gao, Xiaocai ^{[1
,2
]}

机构：

[1] Northwest Univ, Coll Life Sci, Key Lab Resource Biol & Biotechnol Western China, Minist Educ,Inst Populat & Hlth, Xian 710069, Peoples R China

[2] Northwest Univ, Inst Applicat Psychol, Coll Publ Management, Xian 710069, Peoples R China

[3] Xi An Jiao Tong Univ, Affiliated Hosp 2, Xian 710049, Peoples R China

来源：

JOURNAL OF HUMAN GENETICS | 2012年 / 57卷 / 01期

基金：

中国国家自然科学基金;

关键词：

deiodinase enzyme II (DIO2); Family Based Association Tests (FBAT); mental retardation (MR); thyroid hormone (TH); THYROID-HORMONES; DEIODINASE; BRAIN; GENE;

D O I：

10.1038/jhg.2011.121

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. Journal of Human Genetics (2012) 57, 14-17; doi: 10.1038/jhg.2011.121; published online 3 November 2011

引用

页码：14 / 17

页数：4

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