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Journal of Neurodevelopmental Disorders

, 6:1

First Online: 17 January 2014Received: 14 October 2013Accepted: 02 January 2014


BackgroundHuman 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.

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

ResultsQuantitative 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.

ConclusionThese 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.

KeywordsSpecific language impairment SLI HLA Neurodevelopmental disorders Genetic association AbbreviationsADHDAttention deficit hyperactivity disorder

ELSExpressive language score

FDRFalse discovery rate

HLAHuman leukocyte antigen

NWRNonword repetition score

POBIPeople of the British Isles

RLSReceptive language score

SDStandard deviation

SLISpecific language impairment

SNPSingle-nucleotide polymorphism.

Electronic supplementary materialThe online version of this article doi:10.1186-1866-1955-6-1 contains supplementary material, which is available to authorized users.

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Autor: Ron Nudel - Nuala H Simpson - Gillian Baird - Anne O’Hare - Gina Conti-Ramsden - Patrick F Bolton - Elizabeth R Hennes


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