دورية أكاديمية
أعرض في EDS

Stress-related genetic components in attention-deficit/hyperactivity disorder (ADHD): Effects of the SERPINA6 and SERPINA1 genetic markers in a family-based brazilian sample.

التفاصيل البيبلوغرافية
العنوان: Stress-related genetic components in attention-deficit/hyperactivity disorder (ADHD): Effects of the SERPINA6 and SERPINA1 genetic markers in a family-based brazilian sample.
المؤلفون: Carpena MX; Post-graduate Program in Epidemiology, Federal University of Pelotas, Mal. Deodoro Street 1160, 3rd Floor, Pelotas, RS, Brazil; Developmental Disorders Program, CCBS, Center of Biological Science and Health, Mackenzie Presbyterian University, Consolação Street, 896 - Building 28, 1st Floor - Consolação, São Paulo, SP, 01302-907, Brazil., Sánchez-Luquez KY; Post-graduate Program in Epidemiology, Federal University of Pelotas, Mal. Deodoro Street 1160, 3rd Floor, Pelotas, RS, Brazil., Martins-Silva T; Post-graduate Program in Epidemiology, Federal University of Pelotas, Mal. Deodoro Street 1160, 3rd Floor, Pelotas, RS, Brazil; Human Development and Violence Research Centre (DOVE), Mal. Deodoro Street, 1160 - 3rd Floor, Pelotas, 96020-220, Brazil., Santos TM; International Center for Equity in Health, Federal University of Pelotas, Mal. Deodoro Street 1160, 3rd Floor, Pelotas, RS, Brazil., Farias CP; Post-graduate Program in Epidemiology, Federal University of Pelotas, Mal. Deodoro Street 1160, 3rd Floor, Pelotas, RS, Brazil., Leventhal DGP; International Center for Equity in Health, Federal University of Pelotas, Mal. Deodoro Street 1160, 3rd Floor, Pelotas, RS, Brazil., Berruti B; Post-graduate Program in Epidemiology, Federal University of Pelotas, Mal. Deodoro Street 1160, 3rd Floor, Pelotas, RS, Brazil., Zeni CP; McGovern Medical School, University of Texas Health Science Center at Houston, 1941 East Road, Suite 2100, Houston, TX, 77054, USA., Schmitz M; ADHD Outpatient Program, Hospital de Clínicas de Porto Alegre, Federal University of Rio Grande Do Sul, Ramiro Barcelos Street, 400N - Room 2201(a), 2nd Floor - Santana, Porto Alegre, Rio Grande do Sul, 90035-903, Brazil., Chazan R; Federal University of Rio Grande Do Sul, Post-graduate Program in Psychiatry and Behavioral Sciences, Ramiro Barcelos Street, 2400 - 2nd Floor - Floresta, Porto Alegre, Rio Grande do Sul, 90035-007, Brazil., Hutz MH; Post-graduate Program in Genetics and Molecular Biology, Federal University of Rio Grande Do Sul, Vale Campus, 9500 Bento Gonçalves Ave. - Building 43312M, Porto Alegre, RS, Brazil., Salatino-Oliveira A; Post-graduate Program in Genetics and Molecular Biology, Federal University of Rio Grande Do Sul, Vale Campus, 9500 Bento Gonçalves Ave. - Building 43312M, Porto Alegre, RS, Brazil., Genro JP; Post-graduate Program in Biosciences, Federal University of Health Sciences of Porto Alegre (UFCSPA), Sarmento Leite Street, 245 - Centro Histórico, Porto Alegre, RS, 90050-170, Brazil., Rohde LA; ADHD Outpatient Program, Hospital de Clínicas de Porto Alegre, Federal University of Rio Grande Do Sul, Ramiro Barcelos Street, 400N - Room 2201(a), 2nd Floor - Santana, Porto Alegre, Rio Grande do Sul, 90035-903, Brazil; National Institute of Developmental Psychiatry for Children and Adolescents, 785 Dr. Ovídio Pires de Campos Street, 1(st)floor, Room 6, South Wing - Cerqueira Cesar, São Paulo, SP, 05403-010, Brazil., Tovo-Rodrigues L; Post-graduate Program in Epidemiology, Federal University of Pelotas, Mal. Deodoro Street 1160, 3rd Floor, Pelotas, RS, Brazil. Electronic address: luciana.tovo@gmail.com.
المصدر: Journal of psychiatric research [J Psychiatr Res] 2022 May; Vol. 149, pp. 1-9. Date of Electronic Publication: 2022 Feb 16.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Pergamon Press Country of Publication: England NLM ID: 0376331 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1379 (Electronic) Linking ISSN: 00223956 NLM ISO Abbreviation: J Psychiatr Res Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Oxford : Pergamon Press
مواضيع طبية MeSH: Attention Deficit Disorder with Hyperactivity*/genetics , Transcortin*/genetics , alpha 1-Antitrypsin*/genetics, Brazil ; Genetic Markers ; Genotype ; Humans ; Hydrocortisone/metabolism ; Polymorphism, Single Nucleotide
مستخلص: SERPINA6 and SERPINA1 were recently identified as the main genes associated with plasma cortisol concentration in humans. Although dysregulation in the Hypothalamus-Pituitary-Adrenal (HPA) axis has been observed in Attention Deficit/Hyperactivity Disorder (ADHD), the molecular mechanisms underlying this relationship are still unclear. Evaluation of the SERPINA6/SERPINA1 gene cluster in ADHD may provide relevant information to uncover them. We tested the association between the SERPINA6/SERPINA1 locus, including 95 single nucleotide polymorphisms (SNPs), and ADHD, using data from a Brazilian clinical sample of 259 ADHD probands and their parents. The single SNP association was tested using binary logistic regression, and we performed Classification and Regression Tree (CART) analysis to evaluate genotype combinations' effects on ADHD susceptibility. We assessed SNPs' regulatory effects through the Genotype-Tissue Expression (GTEx) v8 tool, and performed a complementary look-up analysis in the largest ADHD GWAS to date. There was a suggestive association between ADHD and eight variants located in the SERPINA6 region and one in the intergenic region between SERPINA6 and SERPINA1 after correction for multiple tests (p < 0.032). CART analysis showed that the combined effects of genotype GG in rs2144833 and CC in rs10129500 were associated with ADHD (OR = 1.78; CI95% = 1.24-2.55). The GTEx assigned the SNPs as eQTLs for genes in different tissues, including SERPINA6, and the look-up analysis revealed two SNPs associated with ADHD. These results suggest a shared genetic component between cortisol levels and ADHD. HPA dysregulation/altered stress response in ADHD might be mediated by upregulation of corticosteroid binding globulin (CBG, encoded by SERPINA6) expression.
(Copyright © 2022 Elsevier Ltd. All rights reserved.)
فهرسة مساهمة: Keywords: ADHD; Cortisol; GWAS; HPA axis Dysregulation; SERPINA6
المشرفين على المادة: 0 (Genetic Markers)
0 (SERPINA1 protein, human)
0 (SERPINA6 protein, human)
0 (alpha 1-Antitrypsin)
9010-38-2 (Transcortin)
WI4X0X7BPJ (Hydrocortisone)
تواريخ الأحداث: Date Created: 20220226 Date Completed: 20220412 Latest Revision: 20220531
رمز التحديث: 20221213
DOI: 10.1016/j.jpsychires.2022.02.014
PMID: 35217314
قاعدة البيانات: MEDLINE
الوصف
تدمد:1879-1379
DOI:10.1016/j.jpsychires.2022.02.014