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

Molecular Psychiatry

Volumn 19, Issue 11, 2014, Pages 1212-1219

  Xia, K ^a   Guo, H ^a,b   Hu, Z ^a   Xun, G ^a   Zuo, L ^c   Peng, Y ^a   Wang, K ^d   He, Y ^a   Xiong, Z ^a   Sun, L ^d   Pan, Q ^a   Long, Z ^a   Zou, X ^e   Li, X ^a   Li, W ^a   Xu, X ^a   Lu, L ^a   Liu, Y ^a   Hu, Y ^a   Tian, D ^a   Long, L ^a   Ou, J ^a   Zhang, L ^a   Pan, Y ^a   Chen, J ^a   Peng, H ^a   Liu, Q ^a   Luo, X ^a,d   Su, W ^a   Wu, L ^a   Liang, D ^a   Dai, H ^a   Yan, X ^a   Feng, Y ^a   Tang, B ^a   Li, J ^f   Miedzybrodzka, Z ^a   Xia, J ^a   Zhang, Z ^c   Zhang, X ^b,f   St Clair, D ^a   Zhao, J ^b,g   Zhang, F ^b,g   more..

^a CENTRAL SOUTH UNIVERSITY   (China)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^c YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d State Key Laboratory Incubation Base of Dermatology   (China)

^e THE THIRD AFFILIATED HOSPITAL OF SUN YAT SEN UNIVERSITY   (China)

^f UNIVERSITY OF ABERDEEN   (United Kingdom)

^g JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CIS ACTING ELEMENT; CSDE1 PROTEIN, HUMAN; DNA BINDING PROTEIN; GUANOSINE TRIPHOSPHATASE; MEMBRANE PROTEIN; NRAS PROTEIN, HUMAN; RNA BINDING PROTEIN; TRANSCRIPTION FACTOR; TRIM33 PROTEIN, HUMAN;

ARTICLE; AUTISM; BCAS2 GENE; BINDING SITE; CHINESE; CHROMOSOME 1P; CONTROLLED STUDY; CSDE1 GENE; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HAPLOTYPE MAP; HUMAN; MAJOR CLINICAL STUDY; META ANALYSIS (TOPIC); NRAS GENE; PREFRONTAL CORTEX; SINGLE NUCLEOTIDE POLYMORPHISM; TEMPORAL CORTEX; TRIM33 GENE; AFRICAN AMERICAN; ASIAN CONTINENTAL ANCESTRY GROUP; CAUCASIAN; CHINA; CHROMOSOME 1; COHORT ANALYSIS; GENETIC PREDISPOSITION; GENETICS; METABOLISM; RISK;

AFRICAN AMERICANS; ASIAN CONTINENTAL ANCESTRY GROUP; AUTISTIC DISORDER; CHINA; CHROMOSOMES, HUMAN, PAIR 1; COHORT STUDIES; DNA-BINDING PROTEINS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GTP PHOSPHOHYDROLASES; HAPLOTYPES; HUMANS; MEMBRANE PROTEINS; META-ANALYSIS AS TOPIC; POLYMORPHISM, SINGLE NUCLEOTIDE; PREFRONTAL CORTEX; RISK; RNA-BINDING PROTEINS; TRANSCRIPTION FACTORS;

EID: 84908514249     PISSN: 13594184     EISSN: 14765578     Source Type: Journal    
DOI: 10.1038/mp.2013.146     Document Type: Article

References (37)

1. Bailey A, Phillips W, Rutter M. Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. J Child Psychol Psychiatry 1996; 37: 89-126.
2. Blumberg S, Bramlett MD, Kogan MD, Schieve LA, Jones JR. Changes in prevalence of parent-reported autism spectrum disorder in school-aged U.S. children: 2007 to 2011-2012. Natl Health Statist Rep 2013; 65: 1-12.
3. Hallmayer J, Glasson EJ, Bower C, Petterson B, Croen L, Grether J et al. On the twin risk in autism. Am J Hum Genet 2002; 71: 941-946.
4. Veenstra-VanderWeele J, Cook Jr EH. Molecular genetics of autism spectrum disorder. Mol Psychiatry 2004; 9: 819-832.
5. Gupta AR, State MW. Recent advances in the genetics of autism. Biol Psychiatry 2007; 61: 429-437.
6. Veenstra-Vanderweele J, Christian SL, Cook Jr EH. Autism as a paradigmatic complex genetic disorder. Annu Rev Genom Hum Genet 2004; 5: 379-405.
7. Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 2007; 39: 25-27.
8. Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 2009; 459: 569-573.
9. Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 2011; 70: 863-885.
10. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T et al. Strong association of de novo copy number mutations with autism. Science 2007; 316: 445-449.
11. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008; 358: 667-675.
12. Weiss LA, Arking DE, Daly MJ, Chakravarti A. A genome-wide linkage and association scan reveals novel loci for autism. Nature 2009; 461: 802-808.
13. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010; 466: 368-372.
14. Muers M. Human genetics: fruits of exome sequencing for autism. Nat Rev Genet 2012; 13: 377.
15. Neale BM, Kou Y, Liu L, Maayan A, Samocha KE, Sabo A et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 2012; 485: 242-245.
16. Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012; 485: 237-241.
17. ORoak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 2011; 43: 585-589.
18. Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 2009; 459: 528-533.
19. Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR et al. A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 2010; 19: 4072-4082.
20. McClellan J, King MC. Genetic heterogeneity in human disease. Cell 2010; 141: 210-217.
21. Geschwind DH. Autism: many genes, common pathways? Cell 2008; 135: 391-395.
22. Howie BN, Donnelly P, Marchini J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet 2009; 5: e1000529.
23. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559-575.
24. Dickson SP, Wang K, Krantz I, Hakonarson H, Goldstein DB. Rare variants create synthetic genome-wide associations. PLoS Biol 2010; 8: e1000294.
25. Xu Z, Taylor JA. SNPinfo: integrating GWAS and candidate gene information into functional SNP selection for genetic association studies. Nucleic Acids Res 2009; 37: W600-W605.
26. Colantuoni C, Lipska BK, Ye T, Hyde TM, Tao R, Leek JT et al. Temporal dynamics and genetic control of transcription in the human prefrontal cortex. Nature 2011; 478: 519-523.
27. Voineagu I, Wang X, Johnston P, Lowe JK, Tian Y, Horvath S et al. Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature 2011; 474: 380-384.
28. Chow ML, Pramparo T, Winn ME, Barnes CC, Li HR, Weiss L et al. Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages. PLoS Genet 2012; 8: e1002592.
29. Risch N, Spiker D, Lotspeich L, Nouri N, Hinds D, Hallmayer J et al. A genomic screen of autism: evidence for a multilocus etiology. Am J Hum Genet 1999; 65: 493-507.
30. Auranen M, Nieminen T, Majuri S, Vanhala R, Peltonen L, Järvelä I. Analysis of autism susceptibility gene loci on chromosomes 1p, 4p, 6q, 7q, 13q, 15q, 16p, 17q, 19q and 22q in Finnish multiplex families. Mol Psychiatry 2000; 5: 320-322.
31. Allen-Brady K, Miller J, Matsunami N, Stevens J, Block H, Farley M et al. A highdensity SNP genome-wide linkage scan in a large autism extended pedigree. Mol Psychiatry 2009; 14: 590-600.
32. Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 1997; 15: 70-73.
33. Guernsey DL, Jiang H, Bedard K, Evans SC, Ferguson M, Matsuoka M et al. Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. PLoS Genet 2010; 6: e1001081.
34. Abbas N, Lücking CB, Ricard S, Dürr A, Bonifati V, De Michele G et al. A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinsons Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinsons Disease. Hum Mol Genet 1999; 8: 567-574.
35. Tarpey PS, Raymond FL, OMeara S, Edkins S, Teague J, Butler A et al. Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. Am J Hum Genet 2007; 80: 345-352.
36. Zou Y, Liu Q, Chen B, Zhang X, Guo C, Zhou H et al. Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation. Am J Hum Genet 2007; 80: 561-566.
37. Herbert MR, Russo JP, Yang S, Roohi J, Blaxill M, Kahler SG et al. Autism and environmental genomics. Neurotoxicology 2006; 27: 671-684.