title: Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population.
abstract: The oxytocin receptor (OXTR) gene, which is located on chromosome 3p25.3, has been implicated as a candidate gene for susceptibility of autism spectrum disorder (ASD). Positive associations between OXTR and ASD have been reported in earlier studies. However, the results were inconsistent and demand further studies. In this study, we investigated the associations between OXTR and ASD in a Japanese population by analyzing 11 single-nucleotide polymorphisms (SNPs) using both family-based association test (FBAT) and population-based case-control test. No significant signal was detected in the FBAT test. However, significant differences were observed in allelic frequencies of four SNPs, including rs2254298 between patients and controls. The risk allele of rs2254298 was 'A', which was consistent with the previous study in Chinese, and not with the observations in Caucasian. The difference in the risk allele of this SNP in previous studies might be attributable to an ethnic difference in the linkage disequilibrium structure between the Asians and Caucasians. In addition, haplotype analysis exhibits a significant association between a five-SNP haplotype and ASD, including rs22542898. In conclusion, our study might support that OXTR has a significant role in conferring the risk of ASD in the Japanese population.
authors.affiliation: Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
authors.forename: Xiaoxi
authors.initials: X
authors.lastname: Liu
authors.forename: Yoshiya
authors.initials: Y
authors.lastname: Kawamura
authors.forename: Takafumi
authors.initials: T
authors.lastname: Shimada
authors.forename: Takeshi
authors.initials: T
authors.lastname: Otowa
authors.forename: Shinko
authors.initials: S
authors.lastname: Koishi
authors.forename: Toshiro
authors.initials: T
authors.lastname: Sugiyama
authors.forename: Hisami
authors.initials: H
authors.lastname: Nishida
authors.forename: Ohiko
authors.initials: O
authors.lastname: Hashimoto
authors.forename: Ryoichi
authors.initials: R
authors.lastname: Nakagami
authors.forename: Mamoru
authors.initials: M
authors.lastname: Tochigi
authors.forename: Tadashi
authors.initials: T
authors.lastname: Umekage
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Kano
authors.forename: Taku
authors.initials: T
authors.lastname: Miyagawa
authors.forename: Nobumasa
authors.initials: N
authors.lastname: Kato
authors.forename: Katsushi
authors.initials: K
authors.lastname: Tokunaga
authors.forename: Tsukasa
authors.initials: T
authors.lastname: Sasaki
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D001321:Autistic Disorder / Q000235:genetics*; D005190:Family; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007564:Japan; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D018045:Receptors, Oxytocin / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D018045:Receptors, Oxytocin