Positive Association of the Oxytocin Receptor Gene (OXTR) with Autism in the Chinese Han Population

Wu, Shengxi; Jia, Mengmeng; Ruan, Yan; Liu, Jing; Guo, Yanqing; Mei, Shuang; Gong, Xiaohong; Zhang, Yanbo; Yang, Xiaojian; Zhang, Dai

doi:10.1016/j.biopsych.2005.03.013

Cited by 505 publications

(417 citation statements)

References 29 publications

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“…These results may suggest the potential role of OXTR in ASD, as implicated in the previous studies. [20][21][22] In contrast to the case-control analysis, we did not obtain a support for the association in the family-based analysis. This could be due to the insufficient power with limited numbers of informative families.…”

Section: Discussioncontrasting

confidence: 99%

“…Number of families: number of informative families (that is, families with at least one heterozygous parent). Chinese finding, 20 although the results did not reach the level of statistical significance. Regarding the association of the intron 3 region of OXTR, previous studies observed controversial results.…”

Section: Discussionmentioning

confidence: 82%

“…Regarding the association of the intron 3 region of OXTR, previous studies observed controversial results. [20][21][22] In a Chinese study, the 'A' allele of rs2254298 was risk for ASD, 20 whereas the 'A' allele was protective for ASD in the Caucasians. 21 In addition, a Jewish study 22 found a haplotype, which contained rs2254298 with the 'A' allele, as protective.…”

Section: Discussionmentioning

confidence: 99%

“…These were reported to be associated with ASD in the previous studies. [20][21][22][23] Thus, a total of 12 SNPs were selected. All SNPs were genotyped by using TaqMan genotyping platform.…”

Section: Genotyping and Selection Of The Snpsmentioning

confidence: 99%

“…To date, Chinese and Caucasian studies observed significant genetic associations between OXTR and ASD. [20][21][22] Among them, Wu et al 20 were the first to study the genetic association of single-nucleotide polymorphisms (SNPs) of OXTR in autism. They investigated four SNPs in Han-Chinese ASD trios and found that 'A' alleles of rs53576 and rs2254298 were significantly overtransmitted.…”

Section: Introductionmentioning

confidence: 99%

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Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population

et al. 2010

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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 familybased 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.

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Section: Discussioncontrasting

confidence: 99%

Section: Discussionmentioning

confidence: 82%