Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The ONWARDS insulin icodec trials

A round-up of the ONWARDS phase 3 clinical trials evaluating the novel weekly insulin icodec in people with diabetes.
ADVANCED SEARCH
Log in
Top
Molecular Autism
Published in: Molecular Autism 1/2012

Open Access 01-12-2012 | Short report

Immune function genes CD99L2, JARID2 and TPO show association with autism spectrum disorder

Authors: Paula S Ramos, Satria Sajuthi, Carl D Langefeld, Stephen J Walker

Published in: Molecular Autism | Issue 1/2012

Login to get access

Abstract

Background

A growing number of clinical and basic research studies have implicated immunological abnormalities as being associated with and potentially responsible for the cognitive and behavioral deficits seen in autism spectrum disorder (ASD) children. Here we test the hypothesis that immune-related gene loci are associated with ASD.

Findings

We identified 2,012 genes of known immune-function via Ingenuity Pathway Analysis. Family-based tests of association were computed on the 22,904 single nucleotide polymorphisms (SNPs) from the 2,012 immune-related genes on 1,510 trios available at the Autism Genetic Resource Exchange (AGRE) repository. Several SNPs in immune-related genes remained statistically significantly associated with ASD after adjusting for multiple comparisons. Specifically, we observed significant associations in the CD99 molecule-like 2 region (CD99L2, rs11796490, P = 4.01 × 10-06, OR = 0.68 (0.58-0.80)), in the jumonji AT rich interactive domain 2 (JARID2) gene (rs13193457, P = 2.71 × 10-06, OR = 0.61 (0.49-0.75)), and in the thyroid peroxidase gene (TPO) (rs1514687, P = 5.72 × 10-06, OR = 1.46 (1.24-1.72)).

Conclusions

This study suggests that despite the lack of a general enrichment of SNPs in immune function genes in ASD children, several novel genes with known immune functions are associated with ASD.
Appendix
Available only for authorised users
Literature
1.
CDC: Prevalence of autism spectrum disorders - Autism and Developmental Disabilities Monitoring Network, United States. Morb Mortal Wkly Rep Surveill Summ. 2012, 61: 1-19.
2.
Ashwood P, Krakowiak P, Hertz-Picciotto I, Hansen R, Pessah I, Van de Water J: Elevated plasma cytokines in autism spectrum disorders provide evidence of immune dysfunction and are associated with impaired behavioral outcome. Brain Behav Immun. 2011, 25: 40-45. 10.1016/j.bbi.2010.08.003.PubMedCentralCrossRefPubMed
3.
Jyonouchi H, Geng L, Streck DL, Toruner GA: Children with autism spectrum disorders (ASD) who exhibit chronic gastrointestinal (GI) symptoms and marked fluctuation of behavioral symptoms exhibit distinct innate immune abnormalities and transcriptional profiles of peripheral blood (PB) monocytes. J Neuroimmunol. 2011, 238: 73-80. 10.1016/j.jneuroim.2011.07.001.CrossRefPubMed
4.
Onore C, Careaga M, Ashwood P: The role of immune dysfunction in the pathophysiology of autism. Brain Behav Immun. 2012, 26: 383-392. 10.1016/j.bbi.2011.08.007.PubMedCentralCrossRefPubMed
5.
Armstrong DL, Reiff A, Myones BL, Quismorio FP, Klein-Gitelman M, McCurdy D, Wagner-Weiner L, Silverman E, Ojwang JO, Kaufman KM, Kelly JA, Merrill JT, Harley JB, Bae SC, Vyse TJ, Gilkeson GS, Gaffney PM, Moser KL, Putterman C, Edberg JC, Brown EE, Ziegler J, Langefeld CD, Zidovetzki R, Jacob CO: Identification of new SLE-associated genes with a two-step Bayesian study design. Genes Immun. 2009, 10: 446-456. 10.1038/gene.2009.38.PubMedCentralCrossRefPubMed
6.
Gaulton KJ, Willer CJ, Li Y, Scott LJ, Conneely KN, Jackson AU, Duren WL, Chines PS, Narisu N, Bonnycastle LL, Luo J, Tong M, Sprau AG, Pugh EW, Doheny KF, Valle TT, Abecasis GR, Tuomilehto J, Bergman RN, Collins FS, Boehnke M, Mohlke KL: Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes. Diabetes. 2008, 57: 3136-3144. 10.2337/db07-1731.PubMedCentralCrossRefPubMed
7.
8.
9.
10.
Ma D, Salyakina D, Jaworski JM, Konidari I, Whitehead PL, Andersen AN, Hoffman JD, Slifer SH, Hedges DJ, Cukier HN, Griswold AJ, McCauley JL, Beecham GW, Wright HH, Abramson RK, Martin ER, Hussman JP, Gilbert JR, Cuccaro ML, Haines JL, Pericak-Vance MA: A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Ann Hum Genet. 2009, 73: 263-273. 10.1111/j.1469-1809.2009.00523.x.PubMedCentralCrossRefPubMed
11.
Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, Dong H, Hutman T, Sigman M, Ozonoff S, Klin A: Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature. 2009, 459: 528-533. 10.1038/nature07999.PubMedCentralCrossRefPubMed
12.
Weiss LA, Arking DE, Daly MJ, Chakravarti A: A genome-wide linkage and association scan reveals novel loci for autism. Nature. 2009, 461: 802-808. 10.1038/nature08490.PubMedCentralCrossRefPubMed
13.
Voineagu I, Wang X, Johnston P, Lowe JK, Tian Y, Horvath S, Mill J, Cantor RM, Blencowe BJ, Geschwind DH: Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature. 2011, 474: 380-384. 10.1038/nature10110.PubMedCentralCrossRefPubMed
14.
Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC: PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007, 81: 559-575. 10.1086/519795.PubMedCentralCrossRefPubMed
15.
Martin ER, Monks SA, Warren LL, Kaplan NL: A test for linkage and association in general pedigrees: the pedigree disequilibrium test. Am J Hum Genet. 2000, 67: 146-154. 10.1086/302957.PubMedCentralCrossRefPubMed
16.
17.
Benjamini Y, Hochberg Y: Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Stat Soc B. 1995, 57: 289-300.
18.
Browning BL, Browning SR: A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals. Am J Hum Genet. 2009, 84: 210-223. 10.1016/j.ajhg.2009.01.005.PubMedCentralCrossRefPubMed
19.
Pedrosa E, Ye K, Nolan KA, Morrell L, Okun JM, Persky AD, Saito T, Lachman HM: Positive association of schizophrenia to JARID2 gene. Am J Med Genet B Neuropsychiatr Genet. 2007, 144B: 45-51. 10.1002/ajmg.b.30386.CrossRefPubMed
20.
Liu Y, Chen G, Norton N, Liu W, Zhu H, Zhou P, Luan M, Yang S, Chen X, Carroll L, Williams NM, O'Donovan MC, Kirov G, Owen MJ: Whole genome association study in a homogenous population in Shandong peninsula of China reveals JARID2 as a susceptibility gene for schizophrenia. J Biomed Biotechnol. 2009, 2009: 536918-PubMedCentralPubMed
21.
Cloos PA, Christensen J, Agger K, Helin K: Erasing the methyl mark: histone demethylases at the center of cellular differentiation and disease. Genes Dev. 2008, 22: 1115-1140. 10.1101/gad.1652908.PubMedCentralCrossRefPubMed
22.
Avbelj M, Tahirovic H, Debeljak M, Kusekova M, Toromanovic A, Krzisnik C, Battelino T: High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis. Eur J Endocrinol. 2007, 156: 511-519. 10.1530/EJE-07-0037.CrossRefPubMed
Metadata
Title
Immune function genes CD99L2, JARID2 and TPO show association with autism spectrum disorder
Authors
Paula S Ramos
Satria Sajuthi
Carl D Langefeld
Stephen J Walker
Publication date
01-12-2012
Publisher
BioMed Central
Published in
Molecular Autism / Issue 1/2012
Electronic ISSN: 2040-2392
DOI
https://doi.org/10.1186/2040-2392-3-4

Other articles of this Issue 1/2012

Molecular Autism 1/2012 Go to the issue

Research

Intranasal oxytocin versus placebo in the treatment of adults with autism spectrum disorders: a randomized controlled trial

Research

Vldlr overexpression causes hyperactivity in rats

Research

Social and monetary reward processing in autism spectrum disorders

Research

High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters

Research

Common genetic variants, acting additively, are a major source of risk for autism

Research

Self-referential and social cognition in a case of autism and agenesis of the corpus callosum