Polymorphisms of BDNF Gene and Autism Spectrum Disorders: Family Based Association Study with Korean Trios

• 발행기관: 대한신경정신의학회
• 저자명: HeeJeong Yoo SoYoung Yang InHee Cho Mira Park SoonAe Kim
• 간행물 정보: 『Psychiatry Investigation』제11권 제3호, 319~324쪽, 전체 6쪽
• 주제분류: 의약학 > 정신과학
• 파일형태: PDF
• 발행일자: 2014.07.31

영문 초록

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.

목차

INTRODUCTION

METHODS

RESULTS

DISCUSSION

ACKNOWLEDGEMENTS

REFERENCES

키워드

Autism spectrum disorders Brain derived neurotropic factor Quantitative transmission disequilibrium test Family based association study