title: Positive association of the FTSJ1 gene polymorphisms with nonsyndromic X-linked mental retardation in young Chinese male subjects.
abstract: To investigate the possible genetic association of nonsyndromic X-linked mental retardation (NS-XLMR) with FTSJ1 gene polymorphisms, a case-control association study was performed focusing on the Chinese Han population in the Qinba mountain region. Three common single nucleotide polymorphisms (SNPs) (rs2268954, rs2070991, rs5905692) in the gene were selected and genotyped using the polymerase chain reaction single-strand confirmation polymorphism (PCR-SSCP) method. Pairwise linkage disequilibrium (LD) analysis showed that the three SNPs were in strong LD (all D' > 0.8). There were significant differences between cases and controls in allele frequency distribution of rs2268954 (P = 0.036), rs2070991 (P = 0.043), and rs5905692 (P = 0.014) and in the distributions of common haplotypes combined by these SNPs (global P = 0.01236) in male subjects. In female subjects, however, no positive results were found. Our results suggest a positive association between the genetic variants of the FTSJ1 gene and NS-XLMR in young male subjects in the Chinese Han population in the Qinba region.
authors.affiliation: School of Life Science, Institute of Population and Health, Key Laboratory of Resource Biology and Biotechnology in Western China, Northwest University, Ministry of Education, 229 Tai Bai Road, Xi'an, 710069, China.
authors.forename: Ling
authors.initials: L
authors.lastname: Dai
authors.affiliation: School of Life Science, Institute of Population and Health, Key Laboratory of Resource Biology and Biotechnology in Western China, Northwest University, Ministry of Education, 229 Tai Bai Road, Xi'an, 710069, China.
authors.forename: Lianxi
authors.initials: L
authors.lastname: Xing
authors.affiliation: School of Life Science, Institute of Population and Health, Key Laboratory of Resource Biology and Biotechnology in Western China, Northwest University, Ministry of Education, 229 Tai Bai Road, Xi'an, 710069, China.
authors.forename: Pingyuan
authors.initials: P
authors.lastname: Gong
authors.affiliation: School of Life Science, Institute of Population and Health, Key Laboratory of Resource Biology and Biotechnology in Western China, Northwest University, Ministry of Education, 229 Tai Bai Road, Xi'an, 710069, China.
authors.forename: Kejin
authors.initials: K
authors.lastname: Zhang
authors.affiliation: School of Life Science, Institute of Population and Health, Key Laboratory of Resource Biology and Biotechnology in Western China, Northwest University, Ministry of Education, 229 Tai Bai Road, Xi'an, 710069, China.
authors.forename: Xiaocai
authors.initials: X
authors.lastname: Gao
authors.affiliation: School of Public Management, Institute of Application Psychology, Northwest University, Xi'an, 710069, China.
authors.forename: Zijian
authors.initials: Z
authors.lastname: Zheng
authors.affiliation: Second Hospital, Xi'an Jiaotong University, Xi'an, 710004, China.
authors.forename: Jianping
authors.initials: J
authors.lastname: Zhou
authors.affiliation: Second Hospital, Xi'an Jiaotong University, Xi'an, 710004, China.
authors.forename: Yale
authors.initials: Y
authors.lastname: Guo
authors.affiliation: Second Hospital, Xi'an Jiaotong University, Xi'an, 710004, China.
authors.forename: Shaoping
authors.initials: S
authors.lastname: Guo
authors.affiliation: School of Life Science, Institute of Population and Health, Key Laboratory of Resource Biology and Biotechnology in Western China, Northwest University, Ministry of Education, 229 Tai Bai Road, Xi'an, 710069, China. zhfch@nwu.edu.cn.
authors.forename: Fuchang
authors.initials: F
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China; D005260:Female; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D008780:Methyltransferases / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D013577:Syndrome
chemical_list: D009687:Nuclear Proteins; C490101:FTSJ1 protein, human; D008780:Methyltransferases