TY - JOUR
T1 - Variants in the RAB3A gene are not associated with mental retardation in the Chinese population
AU - Sun, Yun
AU - Zhang, Fuchang
AU - Gao, Jianjun
AU - Gao, Xiaocai
AU - Guo, Tingwei
AU - Shi, Yongyong
AU - Tang, Wei
AU - Li, Sheng
AU - Zheng, Zijian
AU - Zheng, Yonglan
AU - Li, Xingwang
AU - Feng, Guoyin
AU - He, Lin
N1 - Funding Information:
We sincerely thank all participants in this study. This work was supported by grants from the national 973 and 863 programs, the National Natural Science Foundation of China, and the Shanghai Municipal Commission for Science and Technology.
PY - 2006/6/19
Y1 - 2006/6/19
N2 - 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.
AB - 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.
KW - Association study
KW - Chinese population
KW - Genetic polymorphisms
KW - Mental retardation
KW - RAB3A
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U2 - 10.1016/j.neulet.2006.02.079
DO - 10.1016/j.neulet.2006.02.079
M3 - Article
C2 - 16584842
AN - SCOPUS:33646392762
SN - 0304-3940
VL - 401
SP - 114
EP - 118
JO - Neuroscience Letters
JF - Neuroscience Letters
IS - 1-2
ER -