Variants in the RAB3A gene are not associated with mental retardation in the Chinese population

Neurosci Lett. 2006 Jun 19;401(1-2):114-8. doi: 10.1016/j.neulet.2006.02.079. Epub 2006 Apr 11.

Abstract

Mental retardation is a common form of cognitive impairment among children. The underlying causes of mental retardation are extremely heterogeneous, and include significant genetic factors. The coexistence of neuropathology and cognitive deficits supports the view that mental retardation is a disorder of brain development and plasticity. Rab3A, a member of the Rab small G protein family, is a key molecule in modulating basal neurotransmission and contributes to synaptic plasticity. The RAB3A gene is located on chromosome 19p13.11, near a region shown by a linkage study to be involved in the etiology of mental retardation. Because of both its function and chromosomal location, RAB3A is a potential candidate susceptibility gene for mental retardation. To investigate the possible genetic contribution of the RAB3A gene, we performed a case-control association study focused on the Han population of northwestern China using four common SNPs in the gene (rs7259012, rs17683539, rs2271882, and rs874628). Pairwise linkage disequilibrium analysis showed that the four SNPs were in linkage disequilibrium. However, there were no significant differences of either allele or genotype frequencies at any of the SNPs nor any significant differences in haplotype distributions between cases and controls. In conclusion, we have found no evidence for RAB3A conferring susceptibility on mental retardation in the Han Chinese population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Asian People / ethnology
  • Asian People / genetics*
  • Brain / abnormalities
  • Brain / growth & development
  • Brain / physiopathology
  • Brain Chemistry / genetics
  • Child, Preschool
  • China / ethnology
  • Chromosomes, Human, Pair 19 / genetics
  • DNA Mutational Analysis
  • Female
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease / ethnology
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Genotype
  • Humans
  • Intellectual Disability / ethnology
  • Intellectual Disability / genetics*
  • Linkage Disequilibrium / genetics
  • Male
  • Polymorphism, Genetic / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • rab3A GTP-Binding Protein / genetics*

Substances

  • rab3A GTP-Binding Protein