Family-based association study of ITGB3 in autism spectrum disorder and its endophenotypes

European Journal of Human Genetics

Volumn 19, Issue 3, 2011, Pages 353-359

  Napolioni, Valerio ^a,b   Lombardi, Federica ^a,b   Sacco, Roberto ^a,b   Curatolo, Paolo ^c   Manzi, Barbara ^c   Alessandrelli, Riccardo ^c   Militerni, Roberto ^d   Bravaccio, Carmela ^d   Lenti, Carlo ^e   Saccani, Monica ^e   Schneider, Cindy ^f   Melmed, Raun ^g   Pascucci, Tiziana ^b,h   Puglisi Allegra, Stefano ^b,h   Reichelt, Karl Ludvig ⁱ   Rousseau, Francis ^j   Lewin, Patricia ^j   Persico, Antonio M ^a,b  

^a UNIVERSITY CAMPUS BIO MEDICO   (Italy)

^b IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^e UNIVERSITY OF MILAN   (Italy)

^f Center for Autism Research and Education   (United States)

^g Southwest Autism Research and Resource Center   (United States)

^h SAPIENZA UNIVERSITY OF ROME   (Italy)

ⁱ UNIVERSITY OF OSLO   (Norway)

^j Parc Scientifique de Luminy   (France)

more..

Author keywords

autism; integrin b 3; quantitative trait locus; serotonin; serotonin transporter; SLC6A4

Indexed keywords

BETA3 INTEGRIN; SEROTONIN; SEROTONIN TRANSPORTER;

ARTICLE; AUTISM; CAUCASIAN; CHILD; FAMILY; FEMALE; GENE INTERACTION; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC MARKER; GENOTYPE; HAPLOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MULTIPLE REGRESSION; PHENOTYPE; PREMATURE LABOR; PRIORITY JOURNAL; PROGENY; QUANTITATIVE ANALYSIS; RANK SUM TEST; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AUTISTIC DISORDER; CHILD; CHILD, PRESCHOOL; ENDOPHENOTYPES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; INFANT; INTEGRIN BETA3; INTRONS; LINKAGE DISEQUILIBRIUM; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; QUANTITATIVE TRAIT LOCI; REGRESSION ANALYSIS; SEROTONIN; SEROTONIN PLASMA MEMBRANE TRANSPORT PROTEINS; YOUNG ADULT;

EID: 79951814295     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.180     Document Type: Article

References (44)

1. American Psychiatric Association: American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders 4th edition. Publisher, 1994.
2. Persico AM, Bourgeron T: Searching for ways out of the autism maze: genetic, epigenetic and environmental clues. Trends Neurosci 2006; 29: 349-358. (Pubitemid 44108247)
3. Klauck SM: Genetics of autism spectrum disorder. Eur J Hum Genet 2006; 14: 714-720. (Pubitemid 43797268)
4. Lintas C, Persico AM: Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist. J Med Genet 2009; 46: 1-8.
5. Buxbaum JD: Multiple rare variants in the etiology of autism spectrum disorders. Dialogues Clin Neurosci 2009; 11: 35-43.
6. Cook EH, Leventhal BL: The serotonin system in autism. Curr Opin Pediatr 1996; 8: 348-354. (Pubitemid 26393877)
7. Abramson RK, Wright HH, Carpenter R et al: Elevated blood serotonin in autistic probands and their first-degree relatives. J Autism Dev Disord 1989; 19: 397-407. (Pubitemid 19233511)
8. Cook EH, Leventhal BL, Heller W, Metz J, Wainwright M, Freedman DX: Autistic children and their first-degree relatives: relationships between serotonin and norepinephrine levels and intelligence. J Neuropsychiatry Clin Neurosci 1990; 2: 268-274. (Pubitemid 20312481)
9. Leventhal BL, Cook Jr EH, Morford M, Ravitz A, Freedman DX: Relationships of whole blood serotonin and plasma norepinephrine within families. J Autism Dev Disord 1990; 20: 499-511.
10. Weiss LA, Veenstra-Vanderweele J, Newman DL et al: Genome-wide association study identifies ITGB3 as a QTL for whole blood serotonin. Eur J Hum Genet 2004; 12: 949-954. (Pubitemid 39462129)
11. Weiss LA, Abney M, Cook Jr EH, Ober C: Sex-specific genetic architecture of whole blood serotonin levels. Am J Hum Genet 2005; 76: 33-41. (Pubitemid 40023763)
12. Stone JL, Merriman B, Cantor RM et al: Evidence for sex-specific risk alleles in autism spectrum disorder. Am J Hum Genet 2004; 75: 1117-1123. (Pubitemid 39532079)
13. Cantor RM, Kono N, Duvall JA et al: Replication of autism linkage: fine-mapping peak at 17q21. Am J Hum Genet 2005; 76: 1050-1056. (Pubitemid 40705438)
14. Weiss LA, Ober C, Cook Jr EH: ITGB3 shows genetic and expression interaction with SLC6A4. Hum Genet 2006; 120: 93-100.
15. Coutinho AM, Sousa I, Martins M et al: Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels. Hum Genet 2007; 121: 243-256. (Pubitemid 46404458)
16. Weiss LA, Kosova G, Delahanty RJ et al: Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility. Eur J Hum Genet 2006; 14: 923-931. (Pubitemid 44111630)
17. Mei H, Cuccaro ML, Martin ER: Multifactor dimensionality reduction-phenomics: a novel method to capture genetic heterogeneity with use of phenotypic variables. Am J Hum Genet 2007; 81: 1251-1261. (Pubitemid 350211453)
18. Ma DQ, Rabionet R, Konidari I et al: Association and gene-gene interaction of SLC6A4 and ITGB3 in autism. Am J Med Genet B Neuropsychiatr Genet 2009; 153: 477-483.
19. Carneiro AM, Cook EH, Murphy DL, Blakely RD: Interactions between integrin alphaIIbbeta3 and the serotonin transporter regulate serotonin transport and platelet aggregation in mice and humans. J Clin Invest 2008; 118: 1544-1552. (Pubitemid 351500447)
20. Weiss LA, Abney M, Parry R, Scanu AM, Cook Jr EH, Ober C: Variation in ITGB3 has sex-specific associations with plasma lipoprotein(a) and whole blood serotonin levels in a population-based sample. Hum Genet 2005; 117: 81-87. (Pubitemid 40778785)
21. Conciatori M, Stodgell CJ, Hyman SL et al: Morphogenetic effect of the HOXA1 A218G polymorphism on head circumference in patients with autism. Biol Psychiatry 2004; 55: 413-419. (Pubitemid 38199992)
22. Lord C, Rutter M, DiLavore PC, Risi S: ADOS, Autism Diagnostic Observation Schedule. Western Psychological Services: Los Angeles, 2002 (Italian version ed. by Tancredi R, Saccani M, Persico AM, Parrini B, Igliozzi R and Faggioli R. Organizzazioni Speciali: Florence, 2005).
23. Rutter M, Le Couter A, Lord C: ADI-R, Autism Diagnostic Interview - Revised. Western Psychological Services: Los Angeles, 2003 (Italian version ed. by Faggioli R, Saccani M, Persico AM, Tancredi R, Parrini B and Igliozzi R. Organizzazioni Speciali: Florence, 2005).
24. Lahiri DK, Nurnberger Jr JI: A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 1991; 19: 5444.
25. Barrett JC, Fry B, Maller J, Daly MJ: Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21: 263-265. (Pubitemid 40202029)
26. Persico AM, Militerni R, Bravaccio C et al: Lack of association between serotonin transporter gene promoter variants and autistic disorder in two ethnically distinct samples. Am J Med Genet 2000; 96: 123-127. (Pubitemid 30077663)
27. Piven J, Tsai GC, Nehme E, Coyle JT, Chase GA, Folstein SE: Platelet serotonin, a possible marker for familial autism. J Autism Dev Disord 1991; 21: 51-59.
28. Reichelt WH, Knivsberg AM, Nodland M, Stensrud M, Reichelt KL: Urinary peptide levels and patterns in autistic children from seven countries, and the effect of dietary intervention after 4 years. Dev Brain Dysfunct 1997; 10: 44-55. (Pubitemid 27085430)
29. O'Connell JR, Weeks DE: PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 1998; 63: 259-266. (Pubitemid 30428342)
30. Gabriel SB, Schaffner SF, Nguyen H et al: The structure of haplotype blocks in the human genome. Science 2002; 296: 2225-2229. (Pubitemid 34680308)
31. Wang N, Akey JM, Zhang K, Chakraborty R, Jin L: Distribution of recombination crossovers and the origin of haplotype blocks: the interplay of population history, recombination, and mutation. Am J Hum Genet 2002; 71: 1227-1234. (Pubitemid 35305243)
32. Horvath S, Xu X, Lake SL, Silverman EK, Weiss ST, Laird NM: Family-based tests for associating haplotypes with general phenotype data: application to asthma genetics. Genet Epidemiol 2004; 26: 61-69. (Pubitemid 38036644)
33. Dudbridge F: Pedigree disequilibrium tests for multilocus haplotypes. Genet Epidemiol 2003; 25: 115-121. (Pubitemid 37064867)
34. Cordell HJ, Barratt BJ, Clayton DG: Case/pseudocontrol analysis in genetic association studies: a unified framework for detection of genotype and haplotype associations, gene-gene and gene-environment interactions, and parent-of-origin effects. Genet Epidemiol 2004; 26: 167-185. (Pubitemid 38420332)
35. Sacco R, Militerni R, Frolli A et al: Clinical, morphological, and biochemical correlates of head circumference in autism. Biol Psychiatry 2007; 62: 1038-1047. (Pubitemid 47562373)
36. Nyholt NR: A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet 2004; 74: 765-769.
37. Weiss LA, Lester LA, Gern JE et al: Variation in ITGB3 is associated with asthma and sensitization to mold allergen in four populations. Am J Respir Crit Care Med 2005; 172: 67-73. (Pubitemid 40923316)
38. Thompson EE, Pan L, Ostrovnaya I et al: Integrin beta 3 genotype influences asthma and allergy phenotypes in the first 6 years of life. J Allergy Clin Immunol 2007; 119: 1423-1429. (Pubitemid 46855864)
39. Neale BM: Linkage disequilibrium and tagging; in Neale BM, Ferreira MAR, Medland SE, Posthuma D (eds): Statistical Genetics: Gene Mapping Through Linkage and Association. Taylor and Francis, Inc: London, 2007, pp 451-465.
40. Dreyfus M, Kaplan C, Verdy E et al: Frequency of immune thrombocytopenia in newborns: a prospective study. Immune Thrombocytopenia Working Group. Blood 1997; 89: 4402-4406. (Pubitemid 27260250)
41. Ruzzi L, Ciarafoni I, Silvestri L, Semeraro ML, Abeni D: Association of PLA2 polymorphism of the ITGB3 gene with early fetal loss. Fertil Steril 2005; 83: 511-512. (Pubitemid 40221822)
42. O'Connell PJ, Wang X, Leon-Ponte M, Griffiths C, Pingle SC, Ahern GP: A novel form of immune signaling revealed by transmission of the inflammatory mediator serotonin between dendritic cells and T cells. Blood 2006; 107: 1010-1017. (Pubitemid 43156299)
43. Kundermann B, Hemmeter-Spernal J, Strate P et al: Pain sensitivity in major depression and its relationship to central serotoninergic function as reflected by the neuroendocrine response to clomipramine. J Psychiatr Res 2009; 43: 1253-1261.
44. Husebekk A, Killie MK, Kjeldsen-Kragh J, Skogen B: Is it time to implement HPA-1 screening in pregnancy? Curr Opin Hematol 2009; 16: 497-502.