Positive association of CC2D1A and CC2D2A gene haplotypes with mental retardation in a Han Chinese population.
The CC2D1A and CC2D2A genes are involved in Ca(2+)-regulated signaling pathways and have recently been implicated in the etiology of mental retardation (MR). The aim of this study was to investigate whether CC2D1A and CC2D2A polymorphisms are associated with susceptibility to MR in a Han Chinese population using a family based association approach. The sample included 172 trios (parents and offspring), and all subjects were genotyped for several single-nucleotide polymorphisms covering CC2D1A and CC2D2A. Linkage disequilibrium (LD) analysis revealed that the rs6511901 and rs10410239 polymorphisms of CC2D1A were in strong LD (D'=0.865), and haplotype analysis showed evidence for over-transmission from parents to MR offspring (p=0.0009). The LD analysis also revealed that CC2D2A single-nucleotide polymorphisms rs10025837, rs13116304, and rs7661102 were in strong LD (D'=0.848), and haplotype analysis showed significant transmission disequilibrium (p=0.0004). The results suggest the involvement of CC2D1A and CC2D2A in MR in the Han Chinese population, and some specific haplotypes may be susceptible or protective.
Key Laboratory of Resource Biology and Biotechnology in Western China, Ministry of Education, Institute of Population and Health, Institute of Application Psychology, Northwest University, 229 Tai Bai Road, Xi'an, China.
Zhang-Yan
ZY
Shi
Ya-Jing
YJ
Li
Ke-Jin
KJ
Zhang
Xiao-Cai
XC
Gao
Zi-Jian
ZJ
Zheng
Ning
N
Han
Fu-Chang
FC
Zhang
D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D003598:Cytoskeletal Proteins; D004268:DNA-Binding Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008607:Intellectual Disability / Q000208:ethnology / Q000235:genetics*; D015810:Linkage Disequilibrium; D008297:Male; D009679:Nuclear Family; D016017:Odds Ratio; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*
C512283:CC2D1A protein, human; C528701:CC2D2A protein, human; D003598:Cytoskeletal Proteins; D004268:DNA-Binding Proteins; D011506:Proteins