PMID- 16720216 OWN - NLM STAT- MEDLINE DCOM- 20060828 LR - 20101118 IS - 0198-8859 (Print) IS - 0198-8859 (Linking) VI - 67 IP - 4-5 DP - 2006 Apr-May TI - The association and linkage of the HLA-A2 class I allele with autism. PG - 346-51 AB - Previous research has revealed associations between autism and immune genes located in the human leukocyte antigen (HLA). To better understand which HLA genetic loci may be associated with autism, we compared the class I HLA-A and -B alleles in autistic probands with case control subjects from Caucasian families. The frequency of HLA-A2 alleles was significantly increased in autistic subjects compared with normal allelic frequencies from the National Marrow Donors Program (NMDP) (p = 0.0043 after allelic correction). The transmission disequilibrium test for the A2 allele revealed an increased frequency of inheritance for autistic children (p = 0.033). There were no significant associations of autism with HLA-B alleles; however, the A2-B44 and A2-B51 haplotypes were two times more frequent in autistic subjects. The association and linkage of the class I HLA-A2 allele with autism suggests its involvement in the etiology of autism. Possible roles are discussed for the HLA-A2 association in the presentation of microbial antigen within the central nervous system and/or in the establishment of synaptic and neuronal circuits in the developing brain. FAU - Torres, Anthony R AU - Torres AR AD - Center for Persons with Disabilities, Utah State University, Logan, UT 84322-6895, USA. rtorres@cpd2.usu.edu FAU - Sweeten, Thayne L AU - Sweeten TL FAU - Cutler, Adele AU - Cutler A FAU - Bedke, Brent J AU - Bedke BJ FAU - Fillmore, Melanie AU - Fillmore M FAU - Stubbs, E Gene AU - Stubbs EG FAU - Odell, Dennis AU - Odell D LA - eng GR - 1R03NS51549/NS/NINDS NIH HHS/United States PT - Journal Article PT - Research Support, N.I.H., Extramural PT - Research Support, Non-U.S. Gov't DEP - 20060403 PL - United States TA - Hum Immunol JT - Human immunology JID - 8010936 RN - 0 (HLA-A2 Antigen) RN - 0 (Histocompatibility Antigens Class I) SB - IM MH - Alleles MH - Autistic Disorder/*genetics/*immunology MH - Genetic Linkage MH - HLA-A2 Antigen/*genetics MH - Histocompatibility Antigens Class I/*genetics MH - Humans EDAT- 2006/05/25 09:00 MHDA- 2006/08/29 09:00 CRDT- 2006/05/25 09:00 PHST- 2005/10/07 00:00 [received] PHST- 2006/01/02 00:00 [revised] PHST- 2006/01/04 00:00 [accepted] PHST- 2006/05/25 09:00 [pubmed] PHST- 2006/08/29 09:00 [medline] PHST- 2006/05/25 09:00 [entrez] AID - S0198-8859(06)00042-5 [pii] AID - 10.1016/j.humimm.2006.01.001 [doi] PST - ppublish SO - Hum Immunol. 2006 Apr-May;67(4-5):346-51. doi: 10.1016/j.humimm.2006.01.001. Epub 2006 Apr 3.