PMID- 25110506 OWN - NLM STAT- PubMed-not-MEDLINE DCOM- 20140811 LR - 20211021 IS - 1738-3684 (Print) IS - 1976-3026 (Electronic) IS - 1738-3684 (Linking) VI - 11 IP - 3 DP - 2014 Jul TI - Polymorphisms of BDNF gene and autism spectrum disorders: family based association study with korean trios. PG - 319-24 LID - 10.4306/pi.2014.11.3.319 [doi] AB - OBJECTIVE: Autism spectrum disorders (ASDs) 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 with151 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. FAU - Yoo, Hee Jeong AU - Yoo HJ AD - Department of Neuropsychiatry, Seoul National University Bundang Hospital, Seongnam, Republic of Korea. FAU - Yang, So Young AU - Yang SY AD - Department of Pharmacology, Chungnam National University College of Pharmacy, Daejeon, Republic of Korea. FAU - Cho, In Hee AU - Cho IH AD - Department of Psychiatry, Gachon University of Medicine and Science, Incheon, Republic of Korea. FAU - Park, Mira AU - Park M AD - Department of Neuropsychiatry, Seoul National University Bundang Hospital, Seongnam, Republic of Korea. FAU - Kim, Soon Ae AU - Kim SA AD - Department of Pharmacology, School of Medicine, Eulji University, Daejeon, Republic of Korea. LA - eng PT - Journal Article DEP - 20140721 PL - Korea (South) TA - Psychiatry Investig JT - Psychiatry investigation JID - 101242994 PMC - PMC4124192 OTO - NOTNLM OT - Autism spectrum disorders OT - Brain derived neurotropic factor OT - Family based association study OT - Quantitative transmission disequilibrium test EDAT- 2014/08/12 06:00 MHDA- 2014/08/12 06:01 PMCR- 2014/07/01 CRDT- 2014/08/12 06:00 PHST- 2013/06/27 00:00 [received] PHST- 2013/12/02 00:00 [revised] PHST- 2013/12/02 00:00 [accepted] PHST- 2014/08/12 06:00 [entrez] PHST- 2014/08/12 06:00 [pubmed] PHST- 2014/08/12 06:01 [medline] PHST- 2014/07/01 00:00 [pmc-release] AID - 10.4306/pi.2014.11.3.319 [doi] PST - ppublish SO - Psychiatry Investig. 2014 Jul;11(3):319-24. doi: 10.4306/pi.2014.11.3.319. Epub 2014 Jul 21.