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.
J Hum Genet. 2012 Jan;57(1):14-7. doi: 10.1038/jhg.2011.121. Epub 2011 Nov 3.
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.
脱碘酶 II（DIO2）在个体甲状腺激素水平、中枢和外周神经系统发育中具有重要作用，其特征是智力迟钝（MR）。使用 157 个中国 MR 高密度家系谱系中的 5 个单倍型标记单核苷酸多态性（SNP）对 DIO2 基因进行了基因分型，包括 452 个核家族和 >1460 人。通过基于家族的关联测试（FBAT）进行了单标记和单倍型分析。在至少一种遗传模型中，有 3 个 SNP 的 P 值<0.05，经过校正后仍然存在。由这些 SNP 组成的几个单倍型也与 MR 相关。计算机分析鉴定出一个 SNP，即 rs1388378，可能是一个功能 SNP。然而，应该考虑对该 SNP 进行进一步的体外研究，以阐明其对基因表达的影响及其在 MR 易感性中的可能作用。
