韩国三口之家样本中GRIK2基因多态性与自闭症谱系障碍的家系关联研究。
Family-based association study between GRIK2 polymorphisms and autism spectrum disorders in the Korean trios.
作者信息
Kim Soon Ae, Kim Jin Hee, Park Mira, Cho In Hee, Yoo Hee Jeong
机构信息
Department of Pharmacology, School of Medicine, Eulji University, Daejeon, Republic of Korea.
出版信息
Neurosci Res. 2007 Jul;58(3):332-5. doi: 10.1016/j.neures.2007.03.002. Epub 2007 Mar 13.
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with strong genetic components. The present study comprises the detection of four single nucleotide polymorphisms (SNPs) in GRIK2 followed by a family-based association analysis of the SNPs in 126 Korean ASD trios by using the transmission disequilibrium test (TDT) and haplotype analysis. We found preferential transmission of the C allele at the rs3213607 (P<0.001) of GRIK2 in ASD and haplotype analysis revealed that one haplotype demonstrated a significant association (P=0.023). These results suggest a potential association between GRIK2 and ASD in the Korean population.
自闭症谱系障碍（ASD）是一种具有强大遗传成分的复杂神经发育障碍。本研究包括对GRIN2A基因中四个单核苷酸多态性（SNP）的检测，随后通过传递不平衡检验（TDT）和单倍型分析，对126个韩国ASD三联体家庭中的这些SNP进行基于家系的关联分析。我们发现，在自闭症患者中，GRIN2A基因的rs3213607位点的C等位基因存在优先传递（P<0.001），单倍型分析显示一种单倍型具有显著关联（P=0.023）。这些结果表明，在韩国人群中，GRIN2A基因与自闭症谱系障碍之间可能存在关联。
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