Polymorphisms of BDNF Gene and Autism Spectrum Disorders: Family Based Association Study with Korean Trios
DC Field | Value | Language |
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dc.contributor.author | Yoo, Hee Jeong | - |
dc.contributor.author | Yang, So Young | - |
dc.contributor.author | Cho, In Hee | - |
dc.contributor.author | Park, Mira | - |
dc.contributor.author | Kim, Soon Ae | - |
dc.date.available | 2020-02-28T16:47:21Z | - |
dc.date.created | 2020-02-06 | - |
dc.date.issued | 2014-07 | - |
dc.identifier.issn | 1738-3684 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/12508 | - |
dc.description.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. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | KOREAN NEUROPSYCHIATRIC ASSOC | - |
dc.relation.isPartOf | PSYCHIATRY INVESTIGATION | - |
dc.subject | NEUROTROPHINS | - |
dc.subject | SERUM | - |
dc.title | Polymorphisms of BDNF Gene and Autism Spectrum Disorders: Family Based Association Study with Korean Trios | - |
dc.type | Article | - |
dc.type.rims | ART | - |
dc.description.journalClass | 1 | - |
dc.identifier.wosid | 000339774000016 | - |
dc.identifier.doi | 10.4306/pi.2014.11.3.319 | - |
dc.identifier.bibliographicCitation | PSYCHIATRY INVESTIGATION, v.11, no.3, pp.319 - 324 | - |
dc.identifier.kciid | ART001997583 | - |
dc.identifier.scopusid | 2-s2.0-84905500337 | - |
dc.citation.endPage | 324 | - |
dc.citation.startPage | 319 | - |
dc.citation.title | PSYCHIATRY INVESTIGATION | - |
dc.citation.volume | 11 | - |
dc.citation.number | 3 | - |
dc.contributor.affiliatedAuthor | Cho, In Hee | - |
dc.type.docType | Article | - |
dc.subject.keywordAuthor | Autism spectrum disorders | - |
dc.subject.keywordAuthor | Brain derived neurotropic factor | - |
dc.subject.keywordAuthor | Quantitative transmission disequilibrium test | - |
dc.subject.keywordAuthor | Family based association study | - |
dc.subject.keywordPlus | NEUROTROPHINS | - |
dc.subject.keywordPlus | SERUM | - |
dc.relation.journalResearchArea | Psychiatry | - |
dc.relation.journalWebOfScienceCategory | Psychiatry | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | ssci | - |
dc.description.journalRegisteredClass | scopus | - |
dc.description.journalRegisteredClass | kci | - |
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