Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2014 Jan 17;6(1):1.
doi: 10.1186/1866-1955-6-1.

Associations of HLA alleles with specific language impairment

Ron Nudel, Nuala H Simpson, Gillian Baird, Anne O'Hare, Gina Conti-Ramsden, Patrick F Bolton, Elizabeth R Hennessy; SLI Consortium; Anthony P Monaco, Julian C Knight, Bruce Winney, Simon E Fisher, Dianne F Newbury  1
Affiliations

Associations of HLA alleles with specific language impairment

Ron Nudel et al. J Neurodev Disord. .

Abstract

Background: Human leukocyte antigen (HLA) loci have been implicated in several neurodevelopmental disorders in which language is affected. However, to date, no studies have investigated the possible involvement of HLA loci in specific language impairment (SLI), a disorder that is defined primarily upon unexpected language impairment. We report association analyses of single-nucleotide polymorphisms (SNPs) and HLA types in a cohort of individuals affected by language impairment.

Methods: We perform quantitative association analyses of three linguistic measures and case-control association analyses using both SNP data and imputed HLA types.

Results: Quantitative association analyses of imputed HLA types suggested a role for the HLA-A locus in susceptibility to SLI. HLA-A A1 was associated with a measure of short-term memory (P = 0.004) and A3 with expressive language ability (P = 0.006). Parent-of-origin effects were found between HLA-B B8 and HLA-DQA1*0501 and receptive language. These alleles have a negative correlation with receptive language ability when inherited from the mother (P = 0.021, P = 0.034, respectively) but are positively correlated with the same trait when paternally inherited (P = 0.013, P = 0.029, respectively). Finally, case control analyses using imputed HLA types indicated that the DR10 allele of HLA-DRB1 was more frequent in individuals with SLI than population controls (P = 0.004, relative risk = 2.575), as has been reported for individuals with attention deficit hyperactivity disorder (ADHD).

Conclusion: These preliminary data provide an intriguing link to those described by previous studies of other neurodevelopmental disorders and suggest a possible role for HLA loci in language disorders.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Human leukocyte antigen (HLA) allele frequencies in specific language impairment (SLI) probands and controls.
See this image and copyright information in PMC

References

    1. Thomson G. A review of theoretical aspects of HLA and disease associations. Theor Popul Biol. 1981;20:168–208. doi: 10.1016/0040-5809(81)90009-5. - DOI - PubMed
    1. Vandiedonck C, Knight JC. The human Major Histocompatibility Complex as a paradigm in genomics research. Brief Funct Genomic Proteomic. 2009;8:379–394. doi: 10.1093/bfgp/elp010. - DOI - PMC - PubMed
    1. Shiina T, Inoko H, Kulski JK. An update of the HLA genomic region, locus information and disease associations: 2004. Tissue Antigens. 2004;64:631–649. doi: 10.1111/j.1399-0039.2004.00327.x. - DOI - PubMed
    1. Fernando MM, Stevens CR, Walsh EC, De Jager PL, Goyette P, Plenge RM, Vyse TJ, Rioux JD. Defining the role of the MHC in autoimmunity: a review and pooled analysis. PLoS Genet. 2008;4:e1000024. doi: 10.1371/journal.pgen.1000024. - DOI - PMC - PubMed
    1. Ashwood P, Van de Water J. A review of autism and the immune response. Clin Dev Immunol. 2004;11:165–174. doi: 10.1080/10446670410001722096. - DOI - PMC - PubMed