ArticlePloS one2013
The evidence for association of ATP2B2 polymorphisms with autism in Chinese Han population.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
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- Research and Discussion on the Relationships between Noise-Induced Hearing Loss and ATP2B2 Gene Polymorphism.International journal of genomics · 2019Article
- Autism throughout genetics: Perusal of the implication of ion channels.Brain and behavior · 2018Review
- Evidence for a role of plasma membrane calcium pumps in neurodegenerative disease: Recent developments.Neuroscience letters · 2018Review
- Common and Rare Genetic Risk Factors Converge in Protein Interaction Networks Underlying Schizophrenia.Frontiers in genetics · 2018Article
- Ras-like without CAAX 2 (RIT2): a susceptibility gene for autism spectrum disorder.Metabolic brain disease · 2017Article
- Early growth response protein 1 regulates promoter activity of α-plasma membrane calcium ATPase 2, a major calcium pump in the brain and auditory system.BMC molecular biology · 2017Article
- PON2 and ATP2B2 gene polymorphisms with noise-induced hearing loss.Journal of thoracic disease · 2016Article
- Characterization of neurons from immortalized dental pulp stem cells for the study of neurogenetic disorders.Stem cell research · 2015Article
- Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes.Translational psychiatry · 2014Article
- An evo-devo approach to thyroid hormones in cerebral and cerebellar cortical development: etiological implications for autism.Frontiers in endocrinology · 2014Review
- Channelopathy pathogenesis in autism spectrum disorders.Frontiers in genetics · 2013Review
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAutism is a neurodevelopmental disorder with a high estimated heritability. ATP2B2, located on human chromosome 3p25.3, encodes the plasma membrane calcium-transporting ATPase 2 which extrudes Ca(2+) from cytosol into extracellular space. Recent studies reported association between ATP2B2 and autism in samples from Autism Genetic Resource Exchange (AGRE) and Italy. In this study, we investigated whether ATP2B2 polymorphisms were associated with autism in Chinese Han population.
methodsWe performed a family based association study between five SNPs (rs35678 in exon, rs241509, rs3774180, rs3774179, and rs2278556 in introns) in ATP2B2 and autism in 427 autism trios of Han Chinese descent. All SNPs were genotyped using the Sequenom genotyping platform. The family-based association test (FBAT) program was used to perform association test for SNPs and haplotype analyses.
resultsThis study demonstrated a preferential transmission of T allele of rs3774179 to affected offsprings under an additive model (T>C, Z = 2.482, p = 0.013). While C allele of rs3774179 showed an undertransmission from parents to affected children under an additive and a dominant model, respectively (Z = -2.482, p = 0.013; Z = -2.591, p = 0.0096). Haplotype analyses revealed that three haplotypes were significantly associated with autism. The haplotype C-C (rs3774180-rs3774179) showed a significant undertransmission from parents to affected offsprings both in specific and global haplotype FBAT (Z = -2.037, p = 0.042; Global p = 0.03). As for the haplotype constructed by rs3774179 and rs2278556, C-A might be a protective haplotype (Z = -2.206, p = 0.027; Global p = 0.04), while T-A demonstrated an excess transmission from parents to affected offsprings (Z = 2.143, p = 0.032). These results were still significant after using the permutation method to obtain empirical p values.
conclusionsOur research suggested that ATP2B2 might play a role in the etiology of autism in Chinese Han population.
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