Population genetics and external proficiency testing for HLA disease associations

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00098892%3A_____%2F23%3A10158160" target="_blank" >RIV/00098892:_____/23:10158160 - isvavai.cz</a>

Result on the web

<a href="https://www.frontiersin.org/articles/10.3389/fgene.2023.1268705/full" target="_blank" >https://www.frontiersin.org/articles/10.3389/fgene.2023.1268705/full</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3389/fgene.2023.1268705" target="_blank" >10.3389/fgene.2023.1268705</a>

Result language

angličtina

Original language name

Population genetics and external proficiency testing for HLA disease associations

Original language description

Numerous associations of HLA variants with susceptibility to diseases, namely, those with an immunopathological component, have been described to date. The strongest HLA associations were incorporated into the standard algorithms for the diagnostics. Disease-associated HLA variants are routinely detected by various techniques including DNA-based assays. For the identification of HLA markers or their combinations with the highest diagnostic value and those with frequent clinical indications (e.g., HLA-B*27, -B*57:01, -DQ2/-DQ8, -DQB1*06:02), diagnostic tests that focus on a single or limited number of specific HLA antigens/alleles, have already been developed; the use of complete typing for particular HLA loci is a relevant alternative. Importantly, external proficiency testing (EPT) became an integral part of good laboratory practice for HLA disease associations in accredited laboratories and not only supports correct &quot;technical&quot; identification of the associated HLA variants, but also adequate interpretation of the results to the clinicians. In the present article selected aspects of EPT for HLA disease associations related to population genetics are reviewed and discussed with the emphasis on the optimal level of HLA typing resolution, population-based differences in disease associated HLA alleles within the allelic group, distribution and linkage disequilibrium of HLA alleles in particular populations and interpretation of the presence of less common HLA variants/haplotypes. In conclusion, the laboratories that perform and interpret the tests to the clinicians, producers of the certified diagnostics and EPT providers should consider, among others, the genetic characteristics of the populations in order to optimise the diagnostic value of the tests for disease-associated HLA variants.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30101 - Human genetics

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2023

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Frontiers in Genetics

ISSN

1664-8021

e-ISSN

1664-8021

Volume of the periodical

14

Issue of the periodical within the volume

October

Country of publishing house

CH - SWITZERLAND

Number of pages

7

Pages from-to

1268705

UT code for WoS article

001094568000001

EID of the result in the Scopus database

2-s2.0-85175807040