Positive association of the FTSJ1 gene polymorphisms with nonsyndromic X-linked mental retardation in young Chinese male subjects.
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.
Dai
Ling
L
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.
Xing
Lianxi
L
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.
Gong
Pingyuan
P
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.
Zhang
Kejin
K
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.
Gao
Xiaocai
X
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.
Zheng
Zijian
Z
School of Public Management, Institute of Application Psychology, Northwest University, Xi'an, 710069, China.
Zhou
Jianping
J
Second Hospital, Xi'an Jiaotong University, Xi'an, 710004, China.
Guo
Yale
Y
Second Hospital, Xi'an Jiaotong University, Xi'an, 710004, China.
Guo
Shaoping
S
Second Hospital, Xi'an Jiaotong University, Xi'an, 710004, China.
Zhang
Fuchang
F
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.
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
D009687:Nuclear Proteins; C490101:FTSJ1 protein, human; D008780:Methyltransferases