Converging Evidence for an Association of ATP2B2 Allelic Variants with Autism in Male Subjects
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Background Autism is a severe developmental disorder, with strong genetic underpinnings. Previous genome-wide scans unveiled a linkage region spanning 3.5 Mb, located on human chromosome 3p25. This region encompasses the ATP2B2 gene, encoding the plasma membrane calcium-transporting ATPase 2 (PMCA2), which extrudes calcium (Ca2+) from the cytosol into the extracellular space. Multiple lines of evidence support excessive intracellular Ca2+ signaling in autism spectrum disorder (ASD), making ATP2B2 an attractive candidate gene.Methods We performed a family-based association study in an exploratory sample of 277 autism genetic resource exchange families and in a replication sample including 406 families primarily recruited in Italy.Results Several markers were significantly associated with ASD in the exploratory sample, and the same risk alleles at single nucleotide polymorphisms rs3774180, rs2278556, and rs241509 were found associated with ASD in the replication sample after correction for multiple testing. In both samples, the association was present in male subjects only. Markers associated with autism are all comprised within a single block of strong linkage disequilibrium spanning several exons, and the "risk" allele seems to follow a recessive mode of transmission.Conclusions These results provide converging evidence for an association between ATP2B2 gene variants and autism in male subjects, spurring interest into the identification of functional variants, most likely involved in the homeostasis of Ca2+ signaling. Additional support comes from a recent genome-wide association study by the Autism Genome Project, which highlights the same linkage disequilibrium region of the gene.
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- Authors
- Carayol, J., Sacco, R., Tores, F., Rousseau, F., Lewin, P., Hager, J., & Persico, A. M.
- Affiliations
- IntegraGen (France) (FR)
- Università Campus Bio-Medico (IT)
- Corresponding author
- Persico, Antonio M.
- Venue
- Biological Psychiatry
- Publisher
- Elsevier BV
- Published
- 2011-11
- Volume
- 70
- Issue
- 9
- Pages
- 880-887
- ISSN
- 0006-3223 (ISSN-L)
- OpenAlex
- W2006126703
- Cited by
- 59
- References
- 69
- Citations by year
- 2026: 1 · 2025: 5 · 2024: 3 · 2023: 3 · 2022: 2 · 2021: 4 · 2020: 4 · 2019: 4 · 2018: 4 · 2017: 5 · 2016: 2 · 2015: 4 · 2014: 2 · 2013: 7 · 2012: 7
- FWCI
- 2.76
- Type
- journal article
- Language
- en
- Open access
- green
- hdl.handle.net
- Licence
- Locations
- Biological Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- IRIS UNIMORE (University of Modena and Reggio Emilia) (submittedVersion, cc-by)
- Funders
- National Institute of Mental Health (1U24MH081810)
- Italian Ministry of University, Research and Technology (PRIN 2006058195, 2008BACT54)
- Italian Ministry of Health (RFPS-2007-5-640174)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- autism spectrum disorder, ATP2B2, PMCA2, genetic association, single nucleotide polymorphisms, linkage disequilibrium, intracellular calcium signaling, chromosome 3p25, family-based association study, sex differences in autism
- MeSH terms
- Algorithms, Alleles, Autistic Disorder, DNA Replication, Family, Female, Genes, Recessive, Genetic Markers, Genotype, Humans, Intelligence Tests, Italy, Male, Models, Genetic, Psychiatric Status Rating Scales, Genetic Variation, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Plasma Membrane Calcium-Transporting ATPases, Genome-Wide Association Study
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