A Novel Stratification Method in Linkage Studies to Address Inter- and Intra-Family Heterogeneity in Autism

PLoS ONE

Volumn 8, Issue 6, 2013, Pages

  Talebizadeh, Zohreh ^a   Arking, Dan E ^b   Hu, Valerie W ^c  

^a UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTISM; CHROMOSOME 13Q; CHROMOSOME 22Q; CHROMOSOME 5P; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; FAMILY STUDY; FEMALE; GENDER; GENE LOCUS; GENETIC HETEROGENEITY; HUMAN; LANGUAGE DISABILITY; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MARKER GENE; PEDIGREE; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; STRATIFIED SAMPLE; CHROMOSOMAL MAPPING; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; LOD SCORE; PHENOTYPE; PROCEDURES;

AUTISTIC DISORDER; CHROMOSOME MAPPING; FEMALE; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; LOD SCORE; MALE; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84879496109     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0067569     Document Type: Article

References (41)

1. Lord C, Rutter M, Le Couteur A, (1994) Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 24: 659-685.
2. Monaco AP, Bailey AJ, (2001) Autism. The search for susceptibility genes. Lancet 358Suppl: S3.
3. Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, et al. (2007) Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39: 319-328.
4. Weiss LA, Arking DE, Daly MJ, Chakravarti A, (2009) A genome-wide linkage and association scan reveals novel loci for autism. Nature 461: 802-808.
5. Buxbaum JD, Silverman JM, Smith CJ, Kilifarski M, Reichert J, et al. (2001) Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity. Am J Hum Genet 68: 1514-1520.
6. Shao Y, Raiford KL, Wolpert CM, Cope HA, Ravan SA, et al. (2002) Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder. Am J Hum Genet 70: 1058-1061.
7. Schellenberg GD, Dawson G, Sung YJ, Estes A, Munson J, et al. (2006) Evidence for multiple loci from a genome scan of autism kindreds. Mol Psychiatry 11: 1049-1060, 1979.
8. Alarcon M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, et al. (2008) Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet 82: 150-159.
9. Alarcon M, Cantor RM, Liu J, Gilliam TC, Geschwind DH, (2002) Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. Am J Hum Genet 70: 60-71.
10. Alarcon M, Yonan AL, Gilliam TC, Cantor RM, Geschwind DH, (2005) Quantitative genome scan and Ordered-Subsets Analysis of autism endophenotypes support language QTLs. Mol Psychiatry 10: 747-757.
11. Bartlett CW, Flax JF, Logue MW, Smith BJ, Vieland VJ, et al. (2004) Examination of potential overlap in autism and language loci on chromosomes 2, 7, and 13 in two independent samples ascertained for specific language impairment. Hum Hered 57: 10-20.
12. Liu J, Nyholt DR, Magnussen P, Parano E, Pavone P, et al. (2001) A genomewide screen for autism susceptibility loci. Am J Hum Genet 69: 327-340.
13. Gharani N, Benayed R, Mancuso V, Brzustowicz LM, Millonig JH, (2004) Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder. Mol Psychiatry 9: 474-484.
14. IMGSAC (2001) A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p. Am J Hum Genet 69: 570-581.
15. Sen B, Surindro Singh A, Sinha S, Chatterjee A, Ahmed S, et al. (2009) Family-based studies indicate association of Engrailed 2 gene with autism in an Indian population. Genes Brain Behav 9: 248-255.
16. Stone JL, Merriman B, Cantor RM, Yonan AL, Gilliam TC, et al. (2004) Evidence for sex-specific risk alleles in autism spectrum disorder. Am J Hum Genet 75: 1117-1123.
17. Ma DQ, Cuccaro ML, Jaworski JM, Haynes CS, Stephan DA, et al. (2007) Dissecting the locus heterogeneity of autism: significant linkage to chromosome 12q14. Mol Psychiatry 12: 376-384.
18. Cantor RM, Kono N, Duvall JA, Alvarez-Retuerto A, Stone JL, et al. (2005) Replication of autism linkage: fine-mapping peak at 17q21. Am J Hum Genet 76: 1050-1056.
19. Hu VW, Steinberg ME, (2009) Novel clustering of items from the Autism Diagnostic Interview-Revised to define phenotypes within autism spectrum disorders. Autism Res 2: 67-77.
20. Hu VW, Sarachana T, Kim KS, Nguyen A, Kulkarni S, et al. (2009) Gene expression profiling differentiates autism case-controls and phenotypic variants of autism spectrum disorders: evidence for circadian rhythm dysfunction in severe autism. Autism Res 2: 78-97.
21. Wang K, Zhang H, Ma D, Bucan M, Glessner JT, et al. (2009) Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 459: 528-533.
22. Hu VW, Addington A, Hyman A, (2011) Novel autism subtype-dependent genetic variants are revealed by quantitative trait and subphenotype association analyses of published GWAS data. PLoS One 6: e19067.
23. Kilpinen H, Ylisaukko-oja T, Rehnstrom K, Gaal E, Turunen JA, et al. (2009) Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland. Hum Mol Genet 18: 2912-2921.
24. Li H, Li Y, Shao J, Li R, Qin Y, et al. (2008) The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population. Am J Med Genet B Neuropsychiatr Genet 147B: 194-200.
25. Wang L, Jia M, Yue W, Tang F, Qu M, et al. (2008) Association of the ENGRAILED 2 (EN2) gene with autism in Chinese Han population. Am J Med Genet B Neuropsychiatr Genet 147B: 434-438.
26. Coon H, Matsunami N, Stevens J, Miller J, Pingree C, et al. (2005) Evidence for linkage on chromosome 3q25-27 in a large autism extended pedigree. Hum Hered 60: 220-226.
27. Santarelli R, (2010) Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy. Genome Med 2: 91.
28. Vorstman JA, van Daalen E, Jalali GR, Schmidt ER, Pasterkamp RJ, et al. (2011) A double hit implicates DIAPH3 as an autism risk gene. Mol Psychiatry 16: 442-451.
29. Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, et al. (2007) Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 39: 25-27.
30. Bonaglia MC, Giorda R, Mani E, Aceti G, Anderlid BM, et al. (2006) Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. J Med Genet 43: 822-828.
31. Waga C, Okamoto N, Ondo Y, Fukumura-Kato R, Goto Y, et al. (2011) Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development. Psychiatr Genet 21: 208-211.
32. Pebrel-Richard C, Kemeny S, Gouas L, Eymard-Pierre E, Blanc N, et al. (2012) An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment. Eur J Med Genet 55: 650-655.
33. Persson C, Niklasson L, Oskarsdottir S, Johansson S, Jonsson R, et al. (2006) Language skills in 5-8-year-old children with 22q11 deletion syndrome. Int J Lang Commun Disord 41: 313-333.
34. Paylor R, Lindsay E, (2006) Mouse models of 22q11 deletion syndrome. Biol Psychiatry 59: 1172-1179.
35. Glaser B, Mumme DL, Blasey C, Morris MA, Dahoun SP, et al. (2002) Language skills in children with velocardiofacial syndrome (deletion 22q11.2). J Pediatr 140: 753-758.
36. Hiramoto T, Kang G, Suzuki G, Satoh Y, Kucherlapati R, et al. (2011) Tbx1: identification of a 22q11.2 gene as a risk factor for autism spectrum disorder in a mouse model. Hum Mol Genet 20: 4775-4785.
37. Chen YZ, Matsushita M, Girirajan S, Lisowski M, Sun E, et al. (2012) Evidence for involvement of GNB1L in autism. Am J Med Genet B Neuropsychiatr Genet 159B: 61-71.
38. Meechan DW, Tucker ES, Maynard TM, LaMantia AS, (2009) Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome. Proc Natl Acad Sci U S A 106: 16434-16445.
39. Krug A, Markov V, Sheldrick A, Krach S, Jansen A, et al. (2009) The effect of the COMT val(158)met polymorphism on neural correlates of semantic verbal fluency. Eur Arch Psychiatry Clin Neurosci 259: 459-465.
40. Kerin T, Ramanathan A, Rivas K, Grepo N, Coetzee GA, et al. (2012) A noncoding RNA antisense to moesin at 5p14.1 in autism. Sci Transl Med 4: 128ra140.
41. Saeed AI, Sharov V, White J, Li J, Liang W, et al. (2003) TM4: a free, open-source system for microarray data management and analysis. Biotechniques 34: 374-378.