title: Association of TUSC3 gene polymorphisms with non-syndromic mental retardation based on nuclear families in the Qinba mountain area of China.
abstract: TUSC3 interacts with the protein phosphatase 1 and magnesium ion transport system, which plays an important role in learning and memory. Abnormal conditions of learning and memory are common clinical characteristics of mental retardation (MR). However, the association of TUSC3 genetic polymorphisms with MR remains unknown. A total of 456 DNA samples including 174 nuclear families containing MR were collected in the Qinba mountain area of China. The genotypes of eight tag single nucleotide polymorphisms of TUSC3 were evaluated with traditional genetic methods. Family-based association tests, transmission disequilibrium tests (TDTs), and haplotype relative risk (HRR) analyses were performed to investigate the association between genetic variants of the TUSC3 gene and MR. The genetic polymorphisms rs10093881, rs6530893, and rs6994908 were associated with MR (all P values <0.05) based upon the results of single-site TDT and HRR analyses. The haplotype block consisting of rs6530893 and rs6994908, harboring the sixth exon of TUSC3, was also associated with MR (all P values <0.05). This study demonstrated an association between genetic polymorphisms of the TUSC3 gene and MR in the Qinba mountain area, the sixth exon of which might contribute to the risk of MR. However, further studies are needed on the causal mechanisms in this association.
authors.affiliation: Key Laboratory of Resource Biology and Biotechnology in Western China, Ministry of Education, Institute of Population and Health, College of Life Science, Northwest University, Xi'an, Shaanxi, China.
authors.forename: M J
authors.initials: MJ
authors.lastname: Zhang
authors.affiliation: Key Laboratory of Resource Biology and Biotechnology in Western China, Ministry of Education, Institute of Population and Health, College of Life Science, Northwest University, Xi'an, Shaanxi, China.
authors.forename: L X
authors.initials: LX
authors.lastname: Xing
authors.affiliation: The Mental Health Center of Xi'an, Xi'an, Shaanxi, China.
authors.forename: M
authors.initials: M
authors.lastname: Cui
authors.affiliation: Key Laboratory of Resource Biology and Biotechnology in Western China, Ministry of Education, Institute of Population and Health, College of Life Science, Northwest University, Xi'an, Shaanxi, China.
authors.forename: X
authors.initials: X
authors.lastname: Yang
authors.affiliation: The Mental Health Center of Xi'an, Xi'an, Shaanxi, China.
authors.forename: J G
authors.initials: JG
authors.lastname: Shi
authors.affiliation: Institute of Application Psychology, College of Public Management, Northwest University, Xi'an, Shaanxi, China.
authors.forename: J
authors.initials: J
authors.lastname: Li
authors.affiliation: Key Laboratory of Resource Biology and Biotechnology in Western China, Ministry of Education, Institute of Population and Health, College of Life Science, Northwest University, Xi'an, Shaanxi, China.
authors.forename: K J
authors.initials: KJ
authors.lastname: Zhang
authors.affiliation: Institute of Application Psychology, College of Public Management, Northwest University, Xi'an, Shaanxi, China.
authors.forename: Z J
authors.initials: ZJ
authors.lastname: Zheng
authors.affiliation: Key Laboratory of Resource Biology and Biotechnology in Western China, Ministry of Education, Institute of Population and Health, College of Life Science, Northwest University, Xi'an, Shaanxi, China.
authors.forename: F C
authors.initials: FC
authors.lastname: Zhang
authors.affiliation: Key Laboratory of Resource Biology and Biotechnology in Western China, Ministry of Education, Institute of Population and Health, College of Life Science, Northwest University, Xi'an, Shaanxi, China.
authors.forename: J L
authors.initials: JL
authors.lastname: Li
authors.affiliation: Key Laboratory of Resource Biology and Biotechnology in Western China, Ministry of Education, Institute of Population and Health, College of Life Science, Northwest University, Xi'an, Shaanxi, China gaoxc@nwu.edu.cn.
authors.forename: X C
authors.initials: XC
authors.lastname: Gao
mesh_terms: D000293:Adolescent; D044466:Asian People; D002648:Child; D002675:Child, Preschool; D005091:Exons; D005260:Female; D015870:Gene Expression; D006239:Haplotypes; D006801:Humans; D008607:Intellectual Disability / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology; D007361:Intelligence Tests; D015810:Linkage Disequilibrium; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009679:Nuclear Family; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C524338:TUSC3 protein, human; D025521:Tumor Suppressor Proteins