Genome-Wide Association Studies of Autism

被引：0

作者：

Glessner J.T. ^{[1
]}

Connolly J.J. ^{[1
]}

Hakonarson H. ^{[1
,2
,3
]}

机构：

[1] Center for Applied Genomics, The Children’s Hospital of Philadelphia (CHOP), Philadelphia, 19104, PA

[2] Division of Human Genetics Department of Pediatrics, Perelman School of Medicine, Philadelphia, 19104, PA

[3] Pulmonary Medicine, CHOP, Philadelphia, 19104, PA

来源：

Current Behavioral Neuroscience Reports | 2014年 / 1卷 / 4期

关键词：

ASD; Autism; Autism spectrum disorder; CNV; Copy number variation; Gene; Genetic; Genome-wide association; Genomic; GWAS; Next-generation sequencing; NGS; Single nucleotide polymorphism; SNP;

D O I：

10.1007/s40473-014-0023-0

中图分类号：

学科分类号：

摘要：

Autism is a complex disease with many genetic factors contributing to the variable phenotype presentation. Genome-wide association studies (GWAS) using large cohorts and dense datasets have revealed a myriad of genes implicated in autism. Several of these genes belong to common biological pathways and gene networks that converge on potential therapeutic targets. In this regard, CACNA, GRM, CNTN, ubiquitin, and SLIT gene families have shown promising variants in association with autism and related neurodevelopmental disorders. Both common and rare variants reside on these genes discovered primarily by single nucleotide polymorphism (SNP) arrays and whole exome sequencing. The ability to examine large cohorts through unbiased screening and statistical testing of allele frequencies between cases, families, and controls through GWAS will continue to elucidate and clarify the puzzle of autism and inform clinical care. © 2014, Springer International Publishing AG.

引用

页码：234 / 241

页数：7

共 71 条

[1]

Berg J.M., Geschwind D.H., Autism genetics: searching for specificity and convergence, Genome Biol, 13, (2012)

[2]

Saemundsen E., Magnusson P., Georgsdottir I., Egilsson E., Rafnsson V., Prevalence of autism spectrum disorders in an Icelandic birth cohort, BMJ open, 3, 6, (2013)

[3]

Idring S., Rai D., Dal H., Dalman C., Sturm H., Zander E., Et al., Autism spectrum disorders in the Stockholm Youth Cohort: design, prevalence and validity, PLoS ONE, 7, (2012)

[4]

Kim Y.S., Leventhal B.L., Koh Y.-J., Fombonne E., Laska E., Lim E.-C., Et al., Prevalence of autism spectrum disorders in a total population sample, Am J Psychiatr, 168, pp. 904-912, (2011)

[5]

Ozonoff S., Young G.S., Carter A., Messinger D., Yirmiya N., Zwaigenbaum L., Et al., Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study, Pediatrics, 128, pp. e488-e495, (2011)

[6]

Blumberg S.J., Bramlett M.D., Kogan M.D., Schieve L.A., Jones J.R., Lu M.C., Changes in prevalence of parent-reported autism spectrum disorder in school-aged U.S. children: 2007 to 2011–2012, Natl Health Stat Report, 1-11, (2013)

[7]

Hallmayer J., Cleveland S., Torres A., Phillips J., Cohen B., Torigoe T., Et al., Genetic heritability and shared environmental factors among twin pairs with autism, Arch Gen Psychiatry, 68, pp. 1095-1102, (2011)

[8]

Rosenberg R.E., Law J.K., Yenokyan G., McGready J., Kaufmann W.E., Law P.A., Characteristics and concordance of autism spectrum disorders among 277 twin pairs, Arch Pediatr Adolesc Med, 163, pp. 907-914, (2009)

[9]

Hallmayer J., Glasson E.J., Bower C., Petterson B., Croen L., Grether J., Et al., On the twin risk in autism, Am J Hum Genet, 71, pp. 941-946, (2002)

[10]

Oswald D.P., Sonenklar N.A., Medication use among children with autism spectrum disorders, J Child Adolesc Psychopharmacol, 17, pp. 348-355, (2007)

← 1 2 3 4 5 6 7 8 →