Wilczyński Krzysztof Maria, Auguściak-Duma Aleksandra, Cichoń Lena, Stasik Aleksandra, Janas-Kozik Małgorzata
Katedra Psychiatrii i Psychoterapii Wieku Rozwojowego, Śląski Uniwersytet Medyczny w Katowicach.
Centrum Pediatrii im. Jana Pawła II w Sosnowcu Sp. z o.o.
Psychiatr Pol. 2024 Oct 31;58(5):801-814. doi: 10.12740/PP/OnlineFirst/166125.
Clinical effects observed in cases of oxytocin deficiency can also manifest themselves in disorders of mechanisms responsible, for example, for its secretion. For oxytocin, this function is played by - among others - the cluster of differentiation antigen 38 (CD38). Existing literature along with the correlation between protein CD38 and oxytocin secretion raise interest in the context of their possible relation to the clinical picture and development of the autism spectrum disorders (ASD). The aim of the study was to analyze the correlations between polymorphisms rs3796863 and rs6449197 in gene CD38, the level of gene expression and the clinical picture and the risk of ASD diagnosis.
The study included 59 individuals with the mean age of 15.05 years with IQ > 90. The participants were divided into two groups: the studied group consisting of 37 persons with confirmed ASD diagnoses and the control group including 22 neurotypical individuals. Diagnosis verification was carried out via the ADOS-2 protocol.
The comparative analysis with the standardized population based on the 1000Genomes database with the presence of clinically significant intensification of ASD traits showed the correlation of alleles "T" of polymorphisms rs3796863 and rs6449197, which are more frequent in the general population and are treated as "wild". In the inter-group analysis, this type of dependency was weaker, and the genotype of the control group was somehow intermediate between the studied group and the standardized population. In the ΔΔCt analysis, the normalized value of the relative expression level of gene CD38 showed that in the studied group the expression level was around 1.1-1.2 times higher than in the control group.
The obtained results show that a significant correlation with the severity of autism spectrum disorder traits is mainly observed in the carriers of wild variants of the studied polymorphisms, in which the related increase in the expression level of gene CD38 is also observed.
在催产素缺乏病例中观察到的临床效应，也可能在负责其分泌等机制的紊乱中表现出来。对于催产素而言，分化抗原38（CD38）簇等发挥着这一功能。现有文献以及蛋白质CD38与催产素分泌之间的相关性，引发了人们对它们与自闭症谱系障碍（ASD）临床症状及发展之间可能关系的兴趣。本研究的目的是分析CD38基因中rs3796863和rs6449197多态性、基因表达水平与临床症状以及ASD诊断风险之间的相关性。
本研究纳入了59名平均年龄为15.05岁且智商>90的个体。参与者被分为两组：研究组由37名确诊为ASD的个体组成，对照组包括22名神经典型个体。通过ADOS - 2协议进行诊断验证。
基于1000基因组数据库与具有临床显著ASD特征强化的标准化人群进行的比较分析显示，多态性rs3796863和rs6449197的“T”等位基因存在相关性，这些等位基因在普通人群中更常见，被视为“野生型”。在组间分析中，这种相关性较弱，对照组的基因型在某种程度上介于研究组和标准化人群之间。在ΔΔCt分析中，基因CD38相对表达水平的标准化值表明，研究组的表达水平比对照组高约1.1 - 1.2倍。
所得结果表明，在所研究多态性的野生型变体携带者中，主要观察到与自闭症谱系障碍特征严重程度存在显著相关性，其中还观察到基因CD38表达水平的相应升高。
