Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome

Molecular Autism

Volumn 5, Issue 1, 2014, Pages

  Durdiaková, Jaroslava ^a   Warrier, Varun ^a   Baron Cohen, Simon ^a,b   Chakrabarti, Bhismadev ^a,c  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b CAMBRIDGESHIRE AND PETERBOROUGH NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY OF READING   (United Kingdom)

Author keywords

Asperger syndrome; Association study; Single nucleotide polymorphisms; SLC25A12

Indexed keywords

PROTEIN; PROTEIN SLC25A12; UNCLASSIFIED DRUG;

ARTICLE; ASPERGER SYNDROME; CAUCASIAN; CONTROLLED STUDY; FEMALE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84898767197     PISSN: None     EISSN: 20402392     Source Type: Journal    
DOI: 10.1186/2040-2392-5-25     Document Type: Article

References (30)

1. Autistic disturbances of affective contact. Kanner L, Acta Paedopsychiatr 1968 35 4 100 36 4880460
2. Asperger syndrome. Woodbury-Smith MR, Volkmar FR, Eur Child Adolesc Psychiatry 2009 18 1 2 11 10.1007/s00787-008-0701-0 18563474
3. Characteristics and concordance of autism spectrum disorders among 277 twin pairs. Rosenberg RE, Law JK, Yenokyan G, McGready J, Kaufmann WE, Law PA, Arch Pediatr Adolesc Med 2009 163 10 907 14 10.1001/archpediatrics.2009.98 19805709
4. Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome. Chakrabarti B, Dudbridge F, Kent L, Wheelwright S, Hill-Cawthorne G, Allison C, Banerjee-Basu S, Baron-Cohen S, Autism Res 2009 2 3 157 77 10.1002/aur.80 19598235
5. Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene. Bacchelli E, Blasi F, Biondolillo M, Lamb JA, Bonora E, Barnby G, Parr J, Beyer KS, Klauck SM, Poustka A, Bailey AJ, Monaco AP, Maestrini E, Mol Psychiatry 2003 8 11 916 24 10.1038/sj.mp.4001340 14593429 (Pubitemid 37421698)
6. Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. Ramoz N, Reichert JG, Smith CJ, Silverman JM, Bespalova IN, Davis KL, Buxbaum JD, Am J Psychiatry 2004 161 4 662 9 10.1176/appi.ajp.161.4.662 15056512 (Pubitemid 38445510)
7. An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 gene. Ramoz N, Cai G, Reichert JG, Silverman JM, Buxbaum JD, Am J Med Genet B Neuropsychiatr Genet 2008 147B 7 1152 8 10.1002/ajmg.b.30739 18348195
8. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). Saheki T, Kobayashi K, J Hum Genet 2002 47 7 333 41 10.1007/s100380200046 12111366 (Pubitemid 34733510)
9. Brief report: high frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene. Correia C, Coutinho AM, Diogo L, Grazina M, Marques C, Miguel T, Ataide A, Almeida J, Borges L, Oliveira C, Oliveira G, Vicente AM, J Autism Dev Disord 2006 36 8 1137 40 10.1007/s10803-006-0138-6 17151801 (Pubitemid 46020366)
10. Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria. Palmieri L, Pardo B, Lasorsa FM, del Arco A, Kobayashi K, Iijima M, Runswick MJ, Walker JE, Saheki T, Satrustegui J, Palmieri F, EMBO J 2001 20 18 5060 9 10.1093/emboj/20.18.5060 11566871 (Pubitemid 32910902)
11. The mitochondrial aspartate/glutamate carrier AGC1 and calcium homeostasis: physiological links and abnormalities in autism. Napolioni V, Persico AM, Porcelli V, Palmieri L, Mol Neurobiol 2011 44 1 83 92 10.1007/s12035-011-8192-2 21691713
12. Autism: a mitochondrial disorder? Lombard J, Med Hypotheses 1998 50 6 497 500 10.1016/S0306-9877(98)90270-5 9710323 (Pubitemid 28307912)
13. Mitochondrial DNA abnormalities and autistic spectrum disorders. Pons R, Andreu AL, Checcarelli N, Vila MR, Engelstad K, Sue CM, Shungu D, Haggerty R, de Vivo DC, DiMauro S, J Pediatr 2004 144 1 81 5 10.1016/j.jpeds.2003.10.023 14722523 (Pubitemid 38091426)
14. Confirmation of association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31. Segurado R, Conroy J, Meally E, Fitzgerald M, Gill M, Gallagher L, Am J Psychiatry 2005 162 11 2182 4 10.1176/appi.ajp.162.11.2182 16263864 (Pubitemid 41598278)
15. Mitochondrial aspartate/glutamate carrier SLC25A12 gene is associated with autism. Turunen JA, Rehnstrom K, Kilpinen H, Kuokkanen M, Kempas E, Ylisaukko-Oja T, Autism Res 2008 1 3 189 92 10.1002/aur.25 19360665
16. A quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders. Kim SJ, Silva RM, Flores CG, Jacob S, Guter S, Valcante G, Zaytoun AM, Cook EH, Badner JA, Mol Autism 2011 2 1 8 10.1186/2040-2392-2-8 21609426
17. Autism-related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism. Silverman JM, Buxbaum JD, Ramoz N, Schmeidler J, Reichenberg A, Hollander E, Angelo G, Smith CJ, Kryzak LA, Am J Med Genet B Neuropsychiatr Genet 2008 147 3 408 10 17894412 (Pubitemid 351536809)
18. Lack of association between autism and SLC25A12. Rabionet R, McCauley JL, Jaworski JM, Ashley-Koch AE, Martin ER, Sutcliffe JS, Haines JL, DeLong GR, Abramson RK, Wright HH, Cuccaro ML, Gilbert JR, Pericak-Vance MA, Am J Psychiatry 2006 163 5 929 31 10.1176/appi.ajp.163.5.929 16648338 (Pubitemid 44464545)
19. Association study of the SLC25A12 gene and autism in Han Chinese in Taiwan. Chien WH, Wu YY, Gau SS, Huang YS, Soong WT, Chiu YN, Chen CH, Prog Neuropsychopharmacol Biol Psychiatry 2010 34 1 189 92 10.1016/j.pnpbp.2009.11. 004 19913066
20. Autism genetics. Persico AM, Napolioni V, Behav Brain Res 2013 251 95 112 23769996
21. The autism-spectrum quotient (AQ): evidence from Asperger syndrome/high-functioning autism, males and females, scientists and mathematicians. Baron-Cohen S, Wheelwright S, Skinner R, Martin J, Clubley E, J Autism Dev Disord 2001 31 1 5 17 10.1023/A:1005653411471 11439754
22. Screening adults for Asperger syndrome using the AQ: a preliminary study of its diagnostic validity in clinical practice. Woodbury-Smith MR, Robinson J, Wheelwright S, Baron-Cohen S, J Autism Dev Disord 2005 35 3 331 5 10.1007/s10803-005-3300-7 16119474 (Pubitemid 41125971)
23. PLINK: a tool set for whole-genome association and population-based linkage analyses. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC, Am J Hum Genet 2007 81 3 559 75 10.1086/519795 17701901 (Pubitemid 47330214)
24. HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Ward LD, Kellis M, Nucleic Acids Res 2012 40 Database issue 930 4 22064851
25. SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms. Chelala C, Khan A, Lemoine NR, Bioinformatics 2009 25 5 655 61 10.1093/bioinformatics/btn653 19098027
26. An integrative scoring system for ranking SNPs by their potential deleterious effects. Lee PH, Shatkay H, Bioinformatics 2009 25 8 1048 55 10.1093/bioinformatics/btp103 19228803
27. Altered calcium homeostasis in autism-spectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1. Palmieri L, Papaleo V, Porcelli V, Scarcia P, Gaita L, Sacco R, Hager J, Rousseau F, Curatolo P, Manzi B, Militerni R, Bravaccio C, Trillo S, Schneider C, Melmed R, Elia M, Lenti C, Saccani M, Pascucci T, Puglisi-Allegra S, Reichelt KL, Persico AM, Mol Psychiatry 2010 15 1 38 52 10.1038/mp.2008.63 18607376
28. SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects. Lepagnol-Bestel AM, Maussion G, Boda B, Cardona A, Iwayama Y, Delezoide AL, Moalic JM, Muller D, Dean B, Yoshikawa T, Gorwood P, Buxbaum JD, Ramoz N, Simonneau M, Mol Psychiatry 2008 13 4 385 97 10.1038/sj.mp.4002120 18180767 (Pubitemid 351399819)
29. Role of aralar, the mitochondrial transporter of aspartate-glutamate, in brain N-acetylaspartate formation and Ca(2+) signaling in neuronal mitochondria. Satrustegui J, Contreras L, Ramos M, Marmol P, del Arco A, Saheki T, Pardo B, J Neurosci Res 2007 85 15 3359 66 10.1002/jnr.21299 17497669 (Pubitemid 350058524)
30. AGC1 deficiency associated with global cerebral hypomyelination. Wibom R, Lasorsa FM, Tohonen V, Barbaro M, Sterky FH, Kucinski T, Naess K, Jonsson M, Pierri CL, Palmieri F, Wedell A, N Engl J Med 2009 361 5 489 95 10.1056/NEJMoa0900591 19641205