Common genetic variants on 1p13.2 associate with risk of autism

Kun Xia; Hui Guo; Zheng Mao Hu; Guang Lei Xun; Ling Jun Zuo; Yu Peng; Ke Sheng Wang; Yi Qun He; Zhi Min Xiong; Liang Dan Sun; Qian Pan; Zhi Gao Long; Xiao Bing Zou; Xia Li; Wei Li; Xiao Juan Xu; Li Na Lu; Y Liu; Yi Qiao Hu; Di Tian; Li Wei Long; Jian Jun Ou; X Li; Lu Si Zhang; Yin Lin Pan; Jia Chen; Hao Peng; Qin Lai Liu; Xue Rong Luo; Wei Su; Ling Qian Wu; De Sheng Liang; H Dai; Xin Xiang Yan; Yong Feng; Bei Sha Tang; Jun Li; Zosia Miedzybrodzka; Jia Hui Xia; Zhuohua Zhang; Xing Guang Luo; X Zhang; David St Clair; Jing Ping Zhao; Feng Yu Zhang

doi:10.1038/mp.2013.146

Common genetic variants on 1p13.2 associate with risk of autism

Kun Xia, Hui Guo, Zheng Mao Hu, Guang Lei Xun, Ling Jun Zuo, Yu Peng, Ke Sheng Wang, Yi Qun He, Zhi Min Xiong, Liang Dan Sun, Qian Pan, Zhi Gao Long, Xiao Bing Zou, Xia Li, Wei Li, Xiao Juan Xu, Li Na Lu, Y Liu, Yi Qiao Hu, Di TianLi Wei Long, Jian Jun Ou, X Li, Lu Si Zhang, Yin Lin Pan, Jia Chen, Hao Peng, Qin Lai Liu, Xue Rong Luo, Wei Su, Ling Qian Wu, De Sheng Liang, H Dai, Xin Xiang Yan, Yong Feng, Bei Sha Tang, Jun Li, Zosia Miedzybrodzka, Jia Hui Xia, Zhuohua Zhang, Xing Guang Luo, X Zhang, David St Clair, Jing Ping Zhao, Feng Yu Zhang

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Abstract

Autism is a highly heritable neurodevelopmental disorder, and known genetic variants, mostly rare, account only for a small proportion of cases. Here we report a genome-wide association study on autism using two Chinese cohorts as gene discovery (n=2150) and three data sets of European ancestry populations for replication analysis of top association signals. Meta-analysis identified three single-nucleotide polymorphisms, rs936938 (P=4.49 × 10 -8), non-synonymous rs6537835 (P=3.26 × 10 -8) and rs1877455 (P=8.70 × 10 -8), and related haplotypes, AMPD1-NRAS-CSDE1, TRIM33 and TRIM33-BCAS2, associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism. These genetic associations were further supported by a cis-acting regulatory effect on the gene expressions of CSDE1, NRAS and TRIM33 and by differential expression of CSDE1 and TRIM33 in the human prefrontal cortex of post-mortem brains between subjects with and those without autism. Our study suggests TRIM33 and NRAS-CSDE1 as candidate genes for autism, and may provide a novel insight into the etiology of autism.

Original language	English
Pages (from-to)	1212-1219
Number of pages	8
Journal	MOLECULAR PSYCHIATRY
Volume	19
Issue number	11
DOIs	https://doi.org/10.1038/mp.2013.146
Publication status	Published - 5 Nov 2014

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10.1038/mp.2013.146

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Xia, K., Guo, H., Hu, Z. M., Xun, G. L., Zuo, L. J., Peng, Y., Wang, K. S., He, Y. Q., Xiong, Z. M., Sun, L. D., Pan, Q., Long, Z. G., Zou, X. B., Li, X., Li, W., Xu, X. J., Lu, L. N., Liu, Y., Hu, Y. Q., ... Zhang, F. Y. (2014). Common genetic variants on 1p13.2 associate with risk of autism. MOLECULAR PSYCHIATRY, 19(11), 1212-1219. https://doi.org/10.1038/mp.2013.146

@article{e7e4c43f4dbc45a0beeeaf8d4c8ba3d5,

title = "Common genetic variants on 1p13.2 associate with risk of autism",

abstract = "Autism is a highly heritable neurodevelopmental disorder, and known genetic variants, mostly rare, account only for a small proportion of cases. Here we report a genome-wide association study on autism using two Chinese cohorts as gene discovery (n=2150) and three data sets of European ancestry populations for replication analysis of top association signals. Meta-analysis identified three single-nucleotide polymorphisms, rs936938 (P=4.49 × 10 -8), non-synonymous rs6537835 (P=3.26 × 10 -8) and rs1877455 (P=8.70 × 10 -8), and related haplotypes, AMPD1-NRAS-CSDE1, TRIM33 and TRIM33-BCAS2, associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism. These genetic associations were further supported by a cis-acting regulatory effect on the gene expressions of CSDE1, NRAS and TRIM33 and by differential expression of CSDE1 and TRIM33 in the human prefrontal cortex of post-mortem brains between subjects with and those without autism. Our study suggests TRIM33 and NRAS-CSDE1 as candidate genes for autism, and may provide a novel insight into the etiology of autism.",

author = "Kun Xia and Hui Guo and Hu, {Zheng Mao} and Xun, {Guang Lei} and Zuo, {Ling Jun} and Yu Peng and Wang, {Ke Sheng} and He, {Yi Qun} and Xiong, {Zhi Min} and Sun, {Liang Dan} and Qian Pan and Long, {Zhi Gao} and Zou, {Xiao Bing} and Xia Li and Wei Li and Xu, {Xiao Juan} and Lu, {Li Na} and Y Liu and Hu, {Yi Qiao} and Di Tian and Long, {Li Wei} and Ou, {Jian Jun} and X Li and Zhang, {Lu Si} and Pan, {Yin Lin} and Jia Chen and Hao Peng and Liu, {Qin Lai} and Luo, {Xue Rong} and Wei Su and Wu, {Ling Qian} and Liang, {De Sheng} and H Dai and Yan, {Xin Xiang} and Yong Feng and Tang, {Bei Sha} and Jun Li and Zosia Miedzybrodzka and Xia, {Jia Hui} and Zhuohua Zhang and Luo, {Xing Guang} and X Zhang and {St Clair}, David and Zhao, {Jing Ping} and Zhang, {Feng Yu}",

year = "2014",

month = nov,

day = "5",

doi = "10.1038/mp.2013.146",

language = "English",

volume = "19",

pages = "1212--1219",

journal = "Molecular Psychiatry",

issn = "1476-5578",

publisher = "Nature",

number = "11",

}

Xia, K, Guo, H, Hu, ZM, Xun, GL, Zuo, LJ, Peng, Y, Wang, KS, He, YQ, Xiong, ZM, Sun, LD, Pan, Q, Long, ZG, Zou, XB, Li, X, Li, W, Xu, XJ, Lu, LN, Liu, Y, Hu, YQ, Tian, D, Long, LW, Ou, JJ, Li, X, Zhang, LS, Pan, YL, Chen, J, Peng, H, Liu, QL, Luo, XR, Su, W, Wu, LQ, Liang, DS, Dai, H, Yan, XX, Feng, Y, Tang, BS, Li, J, Miedzybrodzka, Z, Xia, JH, Zhang, Z, Luo, XG, Zhang, X, St Clair, D, Zhao, JP & Zhang, FY 2014, 'Common genetic variants on 1p13.2 associate with risk of autism', MOLECULAR PSYCHIATRY, vol. 19, no. 11, pp. 1212-1219. https://doi.org/10.1038/mp.2013.146

TY - JOUR

T1 - Common genetic variants on 1p13.2 associate with risk of autism

AU - Xia, Kun

AU - Guo, Hui

AU - Hu, Zheng Mao

AU - Xun, Guang Lei

AU - Zuo, Ling Jun

AU - Peng, Yu

AU - Wang, Ke Sheng

AU - He, Yi Qun

AU - Xiong, Zhi Min

AU - Sun, Liang Dan

AU - Pan, Qian

AU - Long, Zhi Gao

AU - Zou, Xiao Bing

AU - Li, Xia

AU - Li, Wei

AU - Xu, Xiao Juan

AU - Lu, Li Na

AU - Liu, Y

AU - Hu, Yi Qiao

AU - Tian, Di

AU - Long, Li Wei

AU - Ou, Jian Jun

AU - Li, X

AU - Zhang, Lu Si

AU - Pan, Yin Lin

AU - Chen, Jia

AU - Peng, Hao

AU - Liu, Qin Lai

AU - Luo, Xue Rong

AU - Su, Wei

AU - Wu, Ling Qian

AU - Liang, De Sheng

AU - Dai, H

AU - Yan, Xin Xiang

AU - Feng, Yong

AU - Tang, Bei Sha

AU - Li, Jun

AU - Miedzybrodzka, Zosia

AU - Xia, Jia Hui

AU - Zhang, Zhuohua

AU - Luo, Xing Guang

AU - Zhang, X

AU - St Clair, David

AU - Zhao, Jing Ping

AU - Zhang, Feng Yu

PY - 2014/11/5

Y1 - 2014/11/5

N2 - Autism is a highly heritable neurodevelopmental disorder, and known genetic variants, mostly rare, account only for a small proportion of cases. Here we report a genome-wide association study on autism using two Chinese cohorts as gene discovery (n=2150) and three data sets of European ancestry populations for replication analysis of top association signals. Meta-analysis identified three single-nucleotide polymorphisms, rs936938 (P=4.49 × 10 -8), non-synonymous rs6537835 (P=3.26 × 10 -8) and rs1877455 (P=8.70 × 10 -8), and related haplotypes, AMPD1-NRAS-CSDE1, TRIM33 and TRIM33-BCAS2, associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism. These genetic associations were further supported by a cis-acting regulatory effect on the gene expressions of CSDE1, NRAS and TRIM33 and by differential expression of CSDE1 and TRIM33 in the human prefrontal cortex of post-mortem brains between subjects with and those without autism. Our study suggests TRIM33 and NRAS-CSDE1 as candidate genes for autism, and may provide a novel insight into the etiology of autism.

AB - Autism is a highly heritable neurodevelopmental disorder, and known genetic variants, mostly rare, account only for a small proportion of cases. Here we report a genome-wide association study on autism using two Chinese cohorts as gene discovery (n=2150) and three data sets of European ancestry populations for replication analysis of top association signals. Meta-analysis identified three single-nucleotide polymorphisms, rs936938 (P=4.49 × 10 -8), non-synonymous rs6537835 (P=3.26 × 10 -8) and rs1877455 (P=8.70 × 10 -8), and related haplotypes, AMPD1-NRAS-CSDE1, TRIM33 and TRIM33-BCAS2, associated with autism; all were mapped to a previously reported linkage region (1p13.2) with autism. These genetic associations were further supported by a cis-acting regulatory effect on the gene expressions of CSDE1, NRAS and TRIM33 and by differential expression of CSDE1 and TRIM33 in the human prefrontal cortex of post-mortem brains between subjects with and those without autism. Our study suggests TRIM33 and NRAS-CSDE1 as candidate genes for autism, and may provide a novel insight into the etiology of autism.

UR - http://www.scopus.com/inward/record.url?scp=84908514249&partnerID=8YFLogxK

U2 - 10.1038/mp.2013.146

DO - 10.1038/mp.2013.146

M3 - Article

VL - 19

SP - 1212

EP - 1219

JO - Molecular Psychiatry

JF - Molecular Psychiatry

SN - 1476-5578

IS - 11

ER -

Common genetic variants on 1p13.2 associate with risk of autism

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