Genome-wide association study of autistic-like traits in a general population study of young adults

被引:26
作者
Jones, Rachel Maree [1 ]
Cadby, Gemma [1 ]
Melton, Phillip E. [1 ]
Abraham, Lawrence J. [1 ,2 ]
Whitehouse, Andrew J. [3 ]
Moses, Eric K. [1 ]
机构
[1] Univ Western Australia, Ctr Genet Origins Hlth & Dis, Perth, WA 6009, Australia
[2] Univ Western Australia, Sch Chem & Biochem, Perth, WA 6009, Australia
[3] Telethon Inst Child Hlth Res, Perth, WA, Australia
基金
英国医学研究理事会;
关键词
autistic-like traits; genome-wide association; PRKCB1; autism spectrum disorder; autism spectrum quotient; CBLN1; SPECTRUM QUOTIENT AQ; TOURETTE-SYNDROME; DISORDERS; VARIANTS; PREVALENCE; BEHAVIORS; PHENOTYPE; CHILDREN; NEUREXIN; SAMPLE;
D O I
10.3389/fnhum.2013.00658
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
It has been proposed that autistic-like traits in the general population lie on a continuum, with clinical Autism Spectrum Disorder (ASD), representing the extreme end of this distribution. The current study undertook a genome-wide association (GWA) scan of 965 young Western Australian adults to identify novel risk variants associated with autistic-like traits. No associations reached genome-wide significance; however, a review of nominally associated single nucleotide polymorphisms (SNPs) indicated two positional candidate loci that have been previously implicated in autistic-like trait etiology. Research has proposed that autistic-like traits in the general population lie on a continuum, with clinical ASD representing the extreme end of this distribution. Inherent in this proposal is that biological mechanisms associated with clinical ASD may also underpin variation in autistic-like traits within the general population. A GWA study using 2,462,046 SNPs was undertaken for ASD in 965 individuals from the Western Australian Pregnancy Cohort (Raine) Study. No SNP associations reached genome-wide significance (p < 5.0 x 10-8). However, investigations into nominal observed SNP associations (p < 1.0 x 10-5) add support to two positional candidate genes previously implicated in ASD etiology, PRKCB1, and CBLN1. The rs198198 SNP (p = 9.587 x 10-6), is located within an intron of the protein kinase C, beta 1 (PRKCB1) gene on chromosome 16p11. The PRKCB1 gene has been previously reported in linkage and association studies for ASD, and its mRNA expression has been shown to be significantly down regulated in ASD cases compared with controls. The rs16946931 SNP (p = 1.78 x 10-6) is located in a region flanking the Cerebellin 1 (CBLN1) gene on chromosome 16q12.1. The CBLN1 gene is involved with synaptogenesis and is part of a gene family previously implicated in ASD. This GWA study is only the second to examine SNPs associated with autistic-like traits in the general population, and provides evidence to support roles for the PRKCB1 and CBLN1 genes in risk of clinical ASD.
引用
收藏
页数:10
相关论文
共 50 条
[41]   Genome-Wide Association Study of Feed Efficiency Related Traits in Ducks [J].
Guo, Qixin ;
Huang, Lan ;
Jiang, Yong ;
Wang, Zhixiu ;
Bi, Yulin ;
Chen, Guohong ;
Bai, Hao ;
Chang, Guobin .
ANIMALS, 2022, 12 (12)
[42]   Genome-wide association study of lung function decline in adults with and without asthma [J].
Imboden, Medea ;
Bouzigon, Emmanuelle ;
Curjuric, Ivan ;
Ramasamy, Adaikalavan ;
Kumar, Ashish ;
Hancock, Dana B. ;
Wilk, Jemma B. ;
Vonk, Judith M. ;
Thun, Gian A. ;
Siroux, Valerie ;
Nadif, Rachel ;
Monier, Florent ;
Gonzalez, Juan R. ;
Wjst, Matthias ;
Heinrich, Joachim ;
Loehr, Laura R. ;
Franceschini, Nora ;
North, Kari E. ;
Altmueller, Janine ;
Koppelman, Gerard H. ;
Guerra, Stefano ;
Kronenberg, Florian ;
Lathrop, Mark ;
Moffatt, Miriam F. ;
O'Connor, George T. ;
Strachan, David P. ;
Postma, Dirkje S. ;
London, Stephanie J. ;
Schindler, Christian ;
Kogevinas, Manolis ;
Kauffmann, Francine ;
Jarvis, Debbie L. ;
Demenais, Florence ;
Probst-Hensch, Nicole M. .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2012, 129 (05) :1218-1228
[43]   A Genome-Wide Association Study of Metabolic Syndrome in the Taiwanese Population [J].
Ho, Chih-Yi ;
Lee, Jia-In ;
Huang, Shu-Pin ;
Chen, Szu-Chia ;
Geng, Jiun-Hung .
NUTRIENTS, 2024, 16 (01)
[44]   Sexually dimorphic facial features vary according to level of autistic-like traits in the general population [J].
Syed Zulqarnain Gilani ;
Diana Weiting Tan ;
Suzanna N Russell-Smith ;
Murray T Maybery ;
Ajmal Mian ;
Peter R Eastwood ;
Faisal Shafait ;
Mithran Goonewardene ;
Andrew JO Whitehouse .
Journal of Neurodevelopmental Disorders, 2015, 7
[45]   A Genome-Wide Association Study on Obesity and Obesity-Related Traits [J].
Wang, Kai ;
Li, Wei-Dong ;
Zhang, Clarence K. ;
Wang, Zuoheng ;
Glessner, Joseph T. ;
Grant, Struan F. A. ;
Zhao, Hongyu ;
Hakonarson, Hakon ;
Price, R. Arlen .
PLOS ONE, 2011, 6 (04)
[46]   A genome-wide association study on liver enzymes in Korean population [J].
Seo, Ji Yeon ;
Lee, Jong-Eun ;
Chung, Goh Eun ;
Shin, Eunsoon ;
Kwak, Min-Sun ;
Yang, Jong In ;
Yim, Jeong Yoon .
PLOS ONE, 2020, 15 (02)
[47]   Genome-Wide Association Study of Pancreatic Cancer in Japanese Population [J].
Low, Siew-Kee ;
Kuchiba, Aya ;
Zembutsu, Hitoshi ;
Saito, Akira ;
Takahashi, Atsushi ;
Kubo, Michiaki ;
Daigo, Yataro ;
Kamatani, Naoyuki ;
Chiku, Suenori ;
Totsuka, Hirohiko ;
Ohnami, Sumiko ;
Hirose, Hiroshi ;
Shimada, Kazuaki ;
Okusaka, Takuji ;
Yoshida, Teruhiko ;
Nakamura, Yusuke ;
Sakamoto, Hiromi .
PLOS ONE, 2010, 5 (07)
[48]   Relations Between Bilingualism and Autistic-Like Traits in a General Population Sample of Primary School Children [J].
Draško Kašćelan ;
Napoleon Katsos ;
Jenny L. Gibson .
Journal of Autism and Developmental Disorders, 2019, 49 :2509-2523
[49]   Genome-Wide Association Study of Young-Onset Hypertension in the Han Chinese Population of Taiwan [J].
Yang, Hsin-Chou ;
Liang, Yu-Jen ;
Wu, Yi-Lin ;
Chung, Chia-Min ;
Chiang, Kuang-Mao ;
Ho, Hung-Yun ;
Ting, Chih-Tai ;
Lin, Tsung-Hsien ;
Sheu, Sheng-Hsiung ;
Tsai, Wei-Chuan ;
Chen, Jyh-Hong ;
Leu, Hsin-Bang ;
Yin, Wei-Hsian ;
Chiu, Ting-Yu ;
Chen, Chin-Iuan ;
Fann, Cathy S. J. ;
Wu, Jer-Yuarn ;
Lin, Teng-Nan ;
Lin, Shing-Jong ;
Chen, Yuan-Tsong ;
Chen, Jaw-Wen ;
Pan, Wen-Harn .
PLOS ONE, 2009, 4 (05)
[50]   A genome-wide association study for reading and language abilities in two population cohorts [J].
Luciano, M. ;
Evans, D. M. ;
Hansell, N. K. ;
Medland, S. E. ;
Montgomery, G. W. ;
Martin, N. G. ;
Wright, M. J. ;
Bates, T. C. .
GENES BRAIN AND BEHAVIOR, 2013, 12 (06) :645-652