A functional polymorphism of the OXTR gene is associated with autistic traits in Caucasian and Asian populations
A functional polymorphism of the OXTR gene is associated with autistic traits in Caucasian and Asian populations
复制标题
OXTR 基因的功能多态性与白人和亚洲人群的自闭症特征相关
DOI：
10.1002/ajmg.b.32596
复制
发表时间：
2017-12-01
影响因子：
2.8
通讯作者：
Kendrick, Keith M.
中科院分区：
文献类型：
--
作者：
Montag, Christian;Sindermann, Cornelia;Kendrick, Keith M.
越来越多的证据表明催产素受体（OXTR）基因多态性与自闭症谱系障碍之间存在关联，但迄今为止，还没有研究确定健康受试者的自闭症特征与潜在的文化差异之间的联系。本研究首先在两个独立的研究中调查了三个广泛研究的OXTR SNPs（rs 53576（G/A）; rs 2254298（G/A）; rs 2268498（T/C））与自闭症和移情特质之间的关联，其中男性和女性高加索人（n=537）和中国学生（n=280）。分别采用自闭症谱系商（AQ）和人际反应指数（IRI）及其分量表对两个独立组的所有受试者进行了自闭症和移情特质的测量。对于两个位点，在自动DNA提取后使用Cobas Z 480 Light Cycler对口腔拭子样品进行OXTR SNP的基因分型。在基因型水平与孤独症特质分数的关联仅在白人受试者中发现rs 2268498，与携带至少一个C等位基因的人相比，TT携带者具有最低的AQ分数。这一发现在中国样本中独立重复，尽管与高加索人样本相比，携带C等位基因的比例较小。共情特质得分和三个SNPs之间存在一些小的关联，但样本之间并不一致。这些发现首次表明，位于OXTR基因启动子侧翼区的rs 2268498 SNP与不同种族/文化群体的自闭症特征相关。这为OXTR基因在自闭症中的作用提供了进一步的支持。
There is increasing evidence for associations between polymorphisms of the oxytocin receptor (OXTR) gene and autism spectrum disorder, but to date no study has established links with autistic traits in healthy subjects and potential cultural differences. The present research firstly investigated associations between three widely studied OXTR SNPs and autistic and empathic traits (rs53576 (G/A); rs2254298 (G/A); rs2268498 (T/C)) in two independent studies on male and female Caucasian (n=537) and Chinese students (n=280). Autistic and empathic traits were measured in all subjects in the two independent groups using the Autism -Spectrum Quotient (AQ) and the Interpersonal Reactivity Index (IRI) respectively, together with their sub-scales. For both sites, genotyping of the OXTR SNPs was conducted on buccal swab samples using a Cobas Z 480 Light Cycler following automated DNA extraction. Associations at the genotype level with autism trait scores were found in Caucasian subjects for rs2268498 only, with TT carriers having the lowest AQ scores compared with those carrying at least one C-allele. This finding was independently replicated in the Chinese sample although a smaller proportion carried the C-allele compared with the Caucasian sample. Some minor associations were found between empathy trait scores and the three SNPs but were not consistent between the samples. These findings show for the first time that the rs2268498 SNP localized in the promoter flanking region of the OXTR gene is associated with autistic traits in different ethnic/cultural groups. This provides further support for the role of the OXTR gene in relation to autism.