Polymorphisms of BDNF Gene and Autism Spectrum Disorders: Family Based Association Study with Korean Trios
- Authors
- Yoo, Hee Jeong; Yang, So Young; Cho, In Hee; Park, Mira; Kim, Soon Ae
- Issue Date
- Jul-2014
- Publisher
- KOREAN NEUROPSYCHIATRIC ASSOC
- Keywords
- Autism spectrum disorders; Brain derived neurotropic factor; Quantitative transmission disequilibrium test; Family based association study
- Citation
- PSYCHIATRY INVESTIGATION, v.11, no.3, pp.319 - 324
- Journal Title
- PSYCHIATRY INVESTIGATION
- Volume
- 11
- Number
- 3
- Start Page
- 319
- End Page
- 324
- URI
- https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/12508
- DOI
- 10.4306/pi.2014.11.3.319
- ISSN
- 1738-3684
- Abstract
- Objective Autism spectrum disorders (ASPS) are a group of early childhood-onset neurodevelopmental disorders characterized by deficits in social interaction and language skills, and repetitive behaviors. Brain-derived neurotrophic factor (BDNF) plays a critical role in the differentiation of normal neuronal cells during embryonic and postnatal neuronal development through its neurotrophic effects. Methods In this study, we performed a family-based association test (FBAT) between single nucleotide polymorphisms (SNPs; rs6265, rs11030101, rs7103411, and rs7103873) or haplotypes in the BDNF gene and affection status Or several quantitative traits characterized by ADI-R with 151 Korean trios, including a child diagnosed as ASDs. Results While no significant association was found between SNPs or haplotypes and the ASDs disease status, a quantitative transmission disequilibrium test (QTDT) by using quantitative traits identified associations of the SNPs (rs6265 and rs11030101) with a domain score for "Restricted, Repetitive and Stereotyped patterns of behavior" (C domain), especially at the subdomain scores for "encompassing preoccupation or circumscribed pattern of interest" (C1) (rs6265A allele, dominant model, p-value=0.019; rs11030101 A allele, additive model, p-value=0.015) and "preoccupations with part of objects or non-functional elements of material" (C4) (rs11030101 A allele, additive Model, p-value=0.015) within the ADI-R diagnostic algorithm. In addition, significant associations were also identified between the haplotypes and these quantitative traits (C1, p-value=0.016; C4, p-Value=0.012). Conclusion We conclude that BDNF gene polymorphisms have a possible role in the pathogenesis of ASDs.
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