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HLA Polymorphism in Regressive and Non-Regressive Autism: A Preliminary Study.
Autism Research ( IF 4.7 ) Pub Date : 2019-10-08 , DOI: 10.1002/aur.2217 Ryad Tamouza 1, 2, 3 , Elisabeth Fernell 4, 5 , Mats Anders Eriksson 6 , Britt-Marie Anderlid 7 , Céline Manier 1 , Christina Mary Mariaselvam 1 , Wahid Boukouaci 1 , Marion Leboyer 1, 2, 3 , Christopher Gillberg 4, 5
Autism Research ( IF 4.7 ) Pub Date : 2019-10-08 , DOI: 10.1002/aur.2217 Ryad Tamouza 1, 2, 3 , Elisabeth Fernell 4, 5 , Mats Anders Eriksson 6 , Britt-Marie Anderlid 7 , Céline Manier 1 , Christina Mary Mariaselvam 1 , Wahid Boukouaci 1 , Marion Leboyer 1, 2, 3 , Christopher Gillberg 4, 5
Affiliation
Autism spectrum disorders (ASD) comprises heterogeneous neurodevelopmental conditions with symptom onset usually during infancy. However, about 10%–30% of affected cases experience a loss of language and social skills around 18–30 months, so‐called regressive autism. In this subset with regression, immune dysfunctions including inflammation and autoimmunity have been proposed to be at risk factors. Given the implication of the human histocompatibility antigens (HLA) system in various aspects of immune responses, including autoimmunity, and in ASD, we investigate here the distribution of the HLA Class I and Class II haplotypes in 131 children with ASD meeting DSM‐IV TR criteria, with and without regression. We found that 62 of the 98 non‐regressive ASD patients carry the HLA‐DPA1*01‐DPB1*04 sub‐haplotype as compared to 14 of the 33 patients with regression (63% vs. 43% respectively, Pc = 0.02), suggesting that this HLA haplotype may exert a protective effect against regression. Similarly, the HLA‐DPA1*01‐DPB1*04 has also been found to be more represented in healthy controls as compared to patients affected with common nonpsychiatric autoimmune disorders. Overall our findings suggest a possible involvement of HLA polymorphism in the context of regressive ASD. Autism Res 2020, 13: 182–186. © 2019 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc.
中文翻译:
回归和非回归自闭症中的HLA多态性:初步研究。
自闭症谱系障碍(ASD)包括异质性神经发育疾病,通常在婴儿期出现症状。但是,约有10%–30%的受感染病例在18–30个月左右会丧失语言和社交技能,即所谓的回归自闭症。在这一具有消退作用的亚组中,已提出包括炎症和自身免疫在内的免疫功能障碍是危险因素。考虑到人类组织相容性抗原(HLA)系统在免疫应答的各个方面(包括自身免疫)和ASD中的意义,我们在此调查131名符合DSM‐IV TR的ASD儿童中HLA I类和II类单倍型的分布标准,有无回归。我们发现98名非退行性ASD患者中有62名携带HLA ‐DPA1 * 01‐DPB1 * 04亚单倍型与33例回归患者中的14例相比(分别为63%和43%,Pc = 0.02),表明这种HLA单倍型可能对回归具有保护作用。同样,与常见的非精神性自身免疫性疾病患者相比,HLA -DPA1 * 01-DPB1 * 04在健康对照组中的比例也更高。总的来说,我们的发现表明在退行性ASD的背景下HLA多态性可能参与其中。Autism Res 2020,13:182-186。©2019作者。由Wiley Periodicals,Inc.出版的国际自闭症研究协会出版的《自闭症研究》。
更新日期:2019-10-08
中文翻译:
回归和非回归自闭症中的HLA多态性:初步研究。
自闭症谱系障碍(ASD)包括异质性神经发育疾病,通常在婴儿期出现症状。但是,约有10%–30%的受感染病例在18–30个月左右会丧失语言和社交技能,即所谓的回归自闭症。在这一具有消退作用的亚组中,已提出包括炎症和自身免疫在内的免疫功能障碍是危险因素。考虑到人类组织相容性抗原(HLA)系统在免疫应答的各个方面(包括自身免疫)和ASD中的意义,我们在此调查131名符合DSM‐IV TR的ASD儿童中HLA I类和II类单倍型的分布标准,有无回归。我们发现98名非退行性ASD患者中有62名携带HLA ‐DPA1 * 01‐DPB1 * 04亚单倍型与33例回归患者中的14例相比(分别为63%和43%,Pc = 0.02),表明这种HLA单倍型可能对回归具有保护作用。同样,与常见的非精神性自身免疫性疾病患者相比,HLA -DPA1 * 01-DPB1 * 04在健康对照组中的比例也更高。总的来说,我们的发现表明在退行性ASD的背景下HLA多态性可能参与其中。Autism Res 2020,13:182-186。©2019作者。由Wiley Periodicals,Inc.出版的国际自闭症研究协会出版的《自闭症研究》。