Alicia García-Alcón , Javier González-Peñas , María José Penzol , Diego Gerez , Mónica Burdeus , Elisa Weckx , Álvaro Andreu-Bernabeu , Carmen Moreno , Mara Parellada
{"title":"对自闭症谱系障碍患者的父母自闭症特征、受孕年龄和多基因背景的探索性分析","authors":"Alicia García-Alcón , Javier González-Peñas , María José Penzol , Diego Gerez , Mónica Burdeus , Elisa Weckx , Álvaro Andreu-Bernabeu , Carmen Moreno , Mara Parellada","doi":"10.1016/j.rpsm.2021.12.001","DOIUrl":null,"url":null,"abstract":"<div><h3>Introduction</h3><p>Advanced parental age (APA) has been associated with an increased risk for autism in the offspring. One explanatory model includes delayed fatherhood in parents with autistic traits.</p></div><div><h3>Material and methods</h3><p>We investigated (1) whether autistic traits in parents, evaluated with the Autism-spectrum Quotient (AQ), correlate with APA in 128 families, (2) in 83 trios with genetic data available, whether AQ correlated with polygenic vulnerability calculated by Polygenic Risk Scores (PRS). We stratified the analyses by as per DSM-IV autism subtypes and by parental sex.</p></div><div><h3>Results</h3><p>We found a statistically significant relation between AQ and APA (<em>r</em> <!-->=<!--> <!-->0.207, <em>p</em> <!-->=<!--> <!-->8.39<!--> <!-->×<!--> <!-->10<sup>−4</sup>, <em>n</em> <!-->=<!--> <!-->256), significantly only in mothers (<em>r</em> <!-->=<!--> <!-->0.233, <em>p</em> <!-->=<!--> <!-->8.23<!--> <!-->×<!--> <!-->10<sup>−3</sup>, <em>n</em> <!-->=<!--> <!-->128) and in Asperger Syndrome (AS) (<em>r</em> <!-->=<!--> <!-->0.319, <em>p</em> <!-->=<!--> <!-->0.034, <em>n</em> <!-->=<!--> <!-->44). There was a significant association between PRS and AQ in the mothers of the participants with AS (β (95%CI)<!--> <!-->=<!--> <!-->3.28 (0.03–6.59); <em>p</em> <!-->=<!--> <!-->0.047).</p></div><div><h3>Conclusions</h3><p>These results show that, in this sample, older mothers present more autistic traits, and APA seems to relate to an AS profile. Furthermore, PRS is significantly associated with maternal AQ of AS subjects. Consequently, a higher polygenic maternal contribution (both by AQ and PRS) seems to contribute to an AS profile.</p></div>","PeriodicalId":101179,"journal":{"name":"Spanish Journal of Psychiatry and Mental Health","volume":"17 1","pages":"Pages 28-34"},"PeriodicalIF":0.0000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1888989121001312/pdfft?md5=dfad4be45cd835ee58c1c951e5603112&pid=1-s2.0-S1888989121001312-main.pdf","citationCount":"0","resultStr":"{\"title\":\"An exploratory analysis of parental autism traits, age at conception and polygenic background in Autism Spectrum Disorders\",\"authors\":\"Alicia García-Alcón , Javier González-Peñas , María José Penzol , Diego Gerez , Mónica Burdeus , Elisa Weckx , Álvaro Andreu-Bernabeu , Carmen Moreno , Mara Parellada\",\"doi\":\"10.1016/j.rpsm.2021.12.001\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Introduction</h3><p>Advanced parental age (APA) has been associated with an increased risk for autism in the offspring. One explanatory model includes delayed fatherhood in parents with autistic traits.</p></div><div><h3>Material and methods</h3><p>We investigated (1) whether autistic traits in parents, evaluated with the Autism-spectrum Quotient (AQ), correlate with APA in 128 families, (2) in 83 trios with genetic data available, whether AQ correlated with polygenic vulnerability calculated by Polygenic Risk Scores (PRS). We stratified the analyses by as per DSM-IV autism subtypes and by parental sex.</p></div><div><h3>Results</h3><p>We found a statistically significant relation between AQ and APA (<em>r</em> <!-->=<!--> <!-->0.207, <em>p</em> <!-->=<!--> <!-->8.39<!--> <!-->×<!--> <!-->10<sup>−4</sup>, <em>n</em> <!-->=<!--> <!-->256), significantly only in mothers (<em>r</em> <!-->=<!--> <!-->0.233, <em>p</em> <!-->=<!--> <!-->8.23<!--> <!-->×<!--> <!-->10<sup>−3</sup>, <em>n</em> <!-->=<!--> <!-->128) and in Asperger Syndrome (AS) (<em>r</em> <!-->=<!--> <!-->0.319, <em>p</em> <!-->=<!--> <!-->0.034, <em>n</em> <!-->=<!--> <!-->44). There was a significant association between PRS and AQ in the mothers of the participants with AS (β (95%CI)<!--> <!-->=<!--> <!-->3.28 (0.03–6.59); <em>p</em> <!-->=<!--> <!-->0.047).</p></div><div><h3>Conclusions</h3><p>These results show that, in this sample, older mothers present more autistic traits, and APA seems to relate to an AS profile. Furthermore, PRS is significantly associated with maternal AQ of AS subjects. Consequently, a higher polygenic maternal contribution (both by AQ and PRS) seems to contribute to an AS profile.</p></div>\",\"PeriodicalId\":101179,\"journal\":{\"name\":\"Spanish Journal of Psychiatry and Mental Health\",\"volume\":\"17 1\",\"pages\":\"Pages 28-34\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S1888989121001312/pdfft?md5=dfad4be45cd835ee58c1c951e5603112&pid=1-s2.0-S1888989121001312-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Spanish Journal of Psychiatry and Mental Health\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1888989121001312\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"0\",\"JCRName\":\"PSYCHIATRY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Spanish Journal of Psychiatry and Mental Health","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1888989121001312","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"0","JCRName":"PSYCHIATRY","Score":null,"Total":0}
引用次数: 0
摘要
导言：父母年龄过大（APA）与后代患自闭症的风险增加有关。材料与方法 我们调查了（1）在 128 个家庭中，用自闭症谱商数（AQ）评估的父母自闭症特征是否与 APA 相关；（2）在 83 个有遗传数据的三人家庭中，AQ 是否与用多基因风险评分（PRS）计算的多基因易感性相关。我们按照 DSM-IV 自闭症亚型和父母性别进行了分层分析。结果我们发现 AQ 与 APA 之间存在显著的统计学关系（r = 0.207，p = 8.39 × 10-4，n = 256），仅在母亲（r = 0.233，p = 8.23 × 10-3，n = 128）和阿斯伯格综合症（AS）（r = 0.319，p = 0.034，n = 44）中存在显著关系。在 AS 患者的母亲中，PRS 与 AQ 之间存在明显关联（β (95%CI) = 3.28 (0.03-6.59); p = 0.047）。此外，PRS 与 AS 受试者母亲的 AQ 显著相关。因此，母亲的多基因贡献（AQ 和 PRS）较高似乎会导致 AS 特征。
An exploratory analysis of parental autism traits, age at conception and polygenic background in Autism Spectrum Disorders
Introduction
Advanced parental age (APA) has been associated with an increased risk for autism in the offspring. One explanatory model includes delayed fatherhood in parents with autistic traits.
Material and methods
We investigated (1) whether autistic traits in parents, evaluated with the Autism-spectrum Quotient (AQ), correlate with APA in 128 families, (2) in 83 trios with genetic data available, whether AQ correlated with polygenic vulnerability calculated by Polygenic Risk Scores (PRS). We stratified the analyses by as per DSM-IV autism subtypes and by parental sex.
Results
We found a statistically significant relation between AQ and APA (r = 0.207, p = 8.39 × 10−4, n = 256), significantly only in mothers (r = 0.233, p = 8.23 × 10−3, n = 128) and in Asperger Syndrome (AS) (r = 0.319, p = 0.034, n = 44). There was a significant association between PRS and AQ in the mothers of the participants with AS (β (95%CI) = 3.28 (0.03–6.59); p = 0.047).
Conclusions
These results show that, in this sample, older mothers present more autistic traits, and APA seems to relate to an AS profile. Furthermore, PRS is significantly associated with maternal AQ of AS subjects. Consequently, a higher polygenic maternal contribution (both by AQ and PRS) seems to contribute to an AS profile.
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