Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean autism spectrum disorders
Abstract
To determine the association between arginine vasopressin receptor 1A gene (AVPR1A) and autism spectrum disorders (ASDs), we examined 3 single nucleotide polymorphisms (SNPs), namely, rs7294536, rs3759292, and rs10877969, in the promoter region of AVPR1A by using a family-based association test (FBAT) in 151 Korean trios. Our results demonstrated a statistically significant association between autism and SNPs (additive model: rs7294536, chi(2)=9.328, df=2, P=0.002; rs10877969, chi(2)=11.529, df=2, P<0.001) as well as between autism and haplotype analysis (additive model: chi(2)=14.122, df=3, P=0.003). In addition, we found that ADI-R scores calculated by using a diagnostic algorithm for failure to develop peer relationships (A2) were higher in subjects having the AA genotype than in subjects having the AG and GG genotypes of rs7294536. Thus, our study provides evidence for a possible association between these SNPs and the phenotype of ASDs.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The citation lists haven’t been fetched yet
References 33 · Cited by 45
- Authors
- Yang, S. Y., Cho, S.-C., Yoo, H. J., Cho, I. H., Park, M., Kim, B.-N., Kim, J.-W., Shin, M.-S., Park, T.-W., Son, J.-W., Chung, U.-S., Kim, H.-W., Yang, Y.-H., Kang, J.-O., & Kim, S. A.
- Affiliations
- Eulji University (KR)
- Seoul National University (KR)
- Seoul National University Bundang Hospital (KR)
- Gachon University (KR)
- Jeonbuk National University Hospital (KR)
- Chungbuk National University (KR)
- Kyungpook National University Hospital (KR)
- Corresponding author
- Kim, Soon Ae
- ORCID
- Venue
- Neuroscience Letters
- Publisher
- Elsevier BV
- Published
- 2010-08
- Volume
- 479
- Issue
- 3
- Pages
- 197-200
- ISSN
- 0304-3940 (ISSN-L)
- OpenAlex
- W1995074550
- Cited by
- 45
- References
- 33
- Citations by year
- 2026: 3 · 2024: 1 · 2023: 4 · 2022: 1 · 2021: 4 · 2020: 4 · 2018: 3 · 2017: 3 · 2016: 4 · 2015: 4 · 2014: 3 · 2013: 2 · 2012: 5
- FWCI
- 2.13
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neuroscience Letters (publishedVersion)
- PubMed (publishedVersion)
- Seoul National University Open Repository (Seoul National University) (submittedVersion)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Social Sciences › Psychology › Social Psychology › Neuroendocrine regulation and behavior
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- autism spectrum disorder, AVPR1A, promoter, single nucleotide polymorphisms, genetic association, haplotype analysis, family-based association test, peer relationship difficulties
- MeSH terms
- Child, Child Development Disorders, Pervasive, Female, Genotype, Humans, Korea, Male, Promoter Regions, Genetic, Receptors, Vasopressin, Polymorphism, Single Nucleotide, Asian People, Genetic Association Studies
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
