title: Family-based association study between GRIK2 polymorphisms and autism spectrum disorders in the Korean trios.
abstract: 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.
authors.affiliation: Department of Pharmacology, School of Medicine, Eulji University, Daejeon, Republic of Korea.
authors.forename: Soon Ae
authors.initials: SA
authors.lastname: Kim
authors.forename: Jin Hee
authors.initials: JH
authors.lastname: Kim
authors.forename: Mira
authors.initials: M
authors.lastname: Park
authors.forename: In Hee
authors.initials: IH
authors.lastname: Cho
authors.forename: Hee Jeong
authors.initials: HJ
authors.lastname: Yoo
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000453:epidemiology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007723:Korea / Q000453:epidemiology; D015810:Linkage Disequilibrium; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D018092:Kainic Acid Receptors / Q000235:genetics*; D000097806:GluK2 Kainate Receptor
chemical_list: D018092:Kainic Acid Receptors; D000097806:GluK2 Kainate Receptor