Evidence map›Paper›PMID 19255754›Full record

ArticleImmunogenetics2009

Cost-effective HLA typing with tagging SNPs predicts celiac disease risk haplotypes in the Finnish, Hungarian, and Italian populations.

Lotta Koskinen, Jihane Romanos, Katri Kaukinen, Kirsi Mustalahti, Ilma Korponay-Szabo, Donatella Barisani, Maria Teresa Bardella, Fabiana Ziberna, Serena Vatta, György Széles and 10 more

Abstract readValidation Study
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In one paragraph

Article in Immunogenetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
4.5field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

24 citing papers in PubMed, 59 citations in OpenAlex.

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4 · The record

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5 · Who and what money

Authors and funding

20 authors at 9 institutions in 4 countries.

Lotta KoskinenDepartment of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.
Jihane Romanos
Katri Kaukinen
Kirsi Mustalahti
Ilma Korponay-Szabo
Donatella Barisani
Maria Teresa Bardella
Fabiana Ziberna
Serena Vatta
György Széles
Zsuzsa Pocsai
Kati Karell
Katri Haimila
Róza Adány
Tarcisio Not
Alessandro Ventura
Markku Mäki
Jukka Partanen
Cisca Wijmenga
Päivi Saavalainen
University of Debrecen · HUFinnish Red Cross · FITampere University · FIIRCCS Materno Infantile Burlo Garofolo · ITUniversity Medical Center Groningen · NLUniversity of Helsinki · FIUniversity of Trieste · ITUniversity of Milan · ITUniversity of Milano-Bicocca · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Human leukocyte antigen (HLA) genes, located on chromosome 6p21.3, have a crucial role in susceptibility to various autoimmune and inflammatory diseases, such as celiac disease and type 1 diabetes. Certain HLA heterodimers, namely DQ2 (encoded by the DQA1*05 and DQB1*02 alleles) and DQ8 (DQA1*03 and DQB1*0302), are necessary for the development of celiac disease. Traditional genotyping of HLA genes is laborious, time-consuming, and expensive. A novel HLA-genotyping method, using six HLA-tagging single-nucleotide polymorphisms (SNPs) and suitable for high-throughput approaches, was described recently. Our aim was to validate this method in the Finnish, Hungarian, and Italian populations. The six previously reported HLA-tagging SNPs were genotyped in patients with celiac disease and in healthy individuals from Finland, Hungary, and two distinct regions of Italy. The potential of this method was evaluated in analyzing how well the tag SNP results correlate with the HLA genotypes previously determined using traditional HLA-typing methods. Using the tagging SNP method, it is possible to determine the celiac disease risk haplotypes accurately in Finnish, Hungarian, and Italian populations, with specificity and sensitivity ranging from 95% to 100%. In addition, it predicts homozygosity and heterozygosity for a risk haplotype, allowing studies on genotypic risk effects. The method is transferable between populations and therefore suited for large-scale research studies and screening of celiac disease among high-risk individuals or at the population level.

Indexed as

Polymorphism, Single NucleotideCeliac DiseaseGenetic TestingHaplotypesHLA AntigensHumansHLA Antigens

Identifiers

PMID19255754
OpenAlexW1992438543

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.