The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families

Psychiatric Genetics

Volumn 22, Issue 4, 2012, Pages 177-181

  Prandini, Paola ^a   Pasquali, Alessandra ^a   Malerba, Giovanni ^a   Marostica, Andrea ^a   Zusi, Chiara ^a   Xumerle, Luciano ^a   Muglia, Pierandrea ^b   Da Ros, Lucio ^b   Ratti, Emiliangelo ^b   Trabetti, Elisabetta ^a   Pignatti, Pier Franco ^a   Allibrio, Giovanni ^c   Amato, Maria Cristina ^d   Anchisi, Laura ^e   Andruccioli, Milena ^f   Battistella, Pier Antonio ^g   Benedetti, Sveva ^h   Benvenuto, Arianna ^h   Boscaini, Flavio ^a   Canetta, Elisabetta ^g   Cangini, Alessandra ^f   Conti, Sara ⁱ   Curatolo, Paolo ^h   Dalla Bernardina, Bernardo ^a   De Giacomo, Andrea ^j   Distefano, Grazia ^d   Di Stefano, Maria Letizia ^d   Di Vita, Giuseppa ^k   Elia, Maurizio ^k   Gitti, Filippo ^c   Grittani, Serenella ^f   Lafortezza, Mariaelena ^j   Lamanna, Anna Linda ^j   Mani, Elisa ^l   Manzi, Barbara ^h   Margari, Lucia ^j   Marino, Maria ^m   Masi, Gabriele ⁿ   Molteni, Massimo ^l   Nardocci, Franco ^f,o   Parmeggiani, Antonia ⁱ   Pascotto, Antonio ^m   Patrini, Mara ^c   Pias, Paola ⁿ   Piroddi, Tiziana ^f   Poledri, Sara ^g   Polizzi, Miriam ^m   Porfirio, Maria Cristina ^h   Posar, Annio ⁱ   Riccio, Maria Pia ^m   Russo, Sebastiano ^d   Santocchi, Elisa ⁿ   Santucci, Margherita ⁱ   Scifo, Renato ^d   Tancredi, Raffaella ⁿ   Tedde, Maria Rita ⁱ   Tiberti, Alessandra ^c   Valli, Angela ^l   Dri, Valeria Vianello ^g   Zanni, Roberta ^e   Zoccante, Leonardo ^a   Zuddas, Alessandro ^e   more..

^a UNIVERSITY OF VERONA   (Italy)

^b Smith and Kline Foundation   (Italy)

^c SPEDALI CIVILI   (Italy)

^d S Marta Hospital   (Italy)

^e UNIVERSITY OF CAGLIARI   (Italy)

^f Hospital degli Infermi   (Italy)

^g UNIVERSITY OF PADOVA   (Italy)

^h UNIVERSITY OF ROME TOR VERGATA   (Italy)

ⁱ UNIVERSITY OF BOLOGNA   (Italy)

^j UNIVERSITY OF BARI   (Italy)

^k OASI RESEARCH INSTITUTE IRCCS   (Italy)

^l SCIENTIFIC INSTITUTE   (Italy)

^m SECOND UNIVERSITY OF NAPLES   (Italy)

ⁿ DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^o AUSL Ravenna   (Italy)

more..

Author keywords

Autism spectrum disorders; Dominance effect; Rs35678; Rs4307059

Indexed keywords

ALLELE; ARTICLE; ATP2B2 GENE; AUTISM; CDH10 GENE; CDH9 GENE; CONTROLLED STUDY; EN2 GENE; FAMILY ASSESSMENT; FAMILY STUDY; FEMALE; GENE; GENETIC ASSOCIATION; GENOTYPE; HUMAN; ITALY; MACROD2 GENE; MAJOR CLINICAL STUDY; MALE; PITX1 GENE; PRIORITY JOURNAL; REPLICATION STUDY; SEMA5A GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SLC25A12 GENE; TAS2R1 GENE;

EID: 84905632330     PISSN: 09558829     EISSN: 14735873     Source Type: Journal    
DOI: 10.1097/YPG.0b013e32835185c9     Document Type: Article

References (22)

1. American Psychiatric Association Task Force on DSM-IV (2010). Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision. Arlington, VA; American Psychiatric Association.
2. Anderson CA, Pettersson FH, Clarke GM, Cardon LR, Morris AP, Zondervan KT (2010). Data quality control in genetic case-control association studies. Nat Protoc 5:1564-1573.
3. Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, et al. (2010). A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 19:4072-4082.
4. Benayed R, Gharani N, Rossman I, Mancuso V, Lazar G, Kamdar S, et al. (2005). Support for the homeobox transcription factor gene ENGRAILED 2 as an autism spectrum disorder susceptibility locus. Am J Hum Genet 77: 851-868.
5. Burmeister M, Mclnnis MG, Zöllner S (2008). Psychiatrie genetics: progress amid controversy. Nat Rev Genet 9:527-540.
6. Carayol J, Letexier M, Tores F, Rousseau F, Sacco R, Persico AM, et al. (2009). Association study of a linkage region on chromosome 3p25 in 816 families shows strong evidence for association of ATP2B2 with autism and language delay. [http://imfar.confex.com/imfar/2009/webprogram/Paper4258.html].
7. Carayol J, Schellenberg GD, Tores F, Hager J, Ziegler A, Dawson G (2010). Assessing the impact of a combined analysis of four common low-risk genetic variants on autism risk. Mol Autism 1:4-14.
8. Carayol J, Sacco R, Tores F, Rousseau F, Lewin P, Hager J, Persico AM (2011). Converging evidence for an association of ATP2B2 allelic variants with Autism in male subjects. Biol Psychiatry 70:880-887.
9. Cordell HJ (2004). Properties, of case/pseudocontrol analysis for genetic association studies: effects of recombination, ascertainment, and multiple affected offspring. Genet Epidemiol 26:186-205.
10. Cordell HJ, Barratt BJ, Clayton DG (2004). 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 26:167-185.
11. 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.
12. Lord C, Risi S, Lambrecht L, Cook EH Jr, Leventhal BL, DiLavore PC, et al. (2000). The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 30:205-223.
13. Ma D, Salyakina D, Jaworski JM, Konidari I, Whitehead PL, Andersen AN, et al. (2009). A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Ann Hum Genet 73:263-273.
14. Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, et al. (2008). Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 82:477-488.
15. Philippi A, Tores F, Carayol J, Rousseau F, Letexier M, Roschmann E, et al. (2007). Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITXT) on chromosome 5q31: a candidate gene analysis. BMC Med Genet 8:74-81.
16. Ramoz N, Reichert JG, Smith CJ, Silverman JM, Bespalova IN, Davis KL, et al. (2004). Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. Am J Psychiatry 61:662-669.
17. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, et al. (2007). Strong association of de novo copy number mutations with autism. Science 316:445-449.
18. Segurado R, Conroy J, Meally E, Fitzgerald, M, Gill M, Gallagher L (2005). Confirmation of association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31. Am J Psychiatry 162:2182-2184.
19. St Pourcain B, Wang K, Glessner JT, Golding J, Steer C, Ring SM, et al. (2010), Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population. Am J Psychiatry 167:1364-1372.
20. Tadevosyan-Leyfer O, Dowd M, Mankoski R, Winklosky B, Putnam S, McGrath L, et al. (2003). A principal components analysis of the Autism Diagnostic Interview-Revised. J Am Acad Child Adolesc Psychiatry 42:864-872.
21. Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, et al. (2009). Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 459:528-533.
22. 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.