PMID- 19255754
OWN - NLM
STAT- MEDLINE
DCOM- 20090413
LR  - 20220311
IS  - 1432-1211 (Electronic)
IS  - 0093-7711 (Linking)
VI  - 61
IP  - 4
DP  - 2009 Apr
TI  - Cost-effective HLA typing with tagging SNPs predicts celiac disease risk 
      haplotypes in the Finnish, Hungarian, and Italian populations.
PG  - 247-56
LID - 10.1007/s00251-009-0361-3 [doi]
AB  - 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.
FAU - Koskinen, Lotta
AU  - Koskinen L
AD  - Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, 
      Helsinki, Finland.
FAU - Romanos, Jihane
AU  - Romanos J
FAU - Kaukinen, Katri
AU  - Kaukinen K
FAU - Mustalahti, Kirsi
AU  - Mustalahti K
FAU - Korponay-Szabo, Ilma
AU  - Korponay-Szabo I
FAU - Barisani, Donatella
AU  - Barisani D
FAU - Bardella, Maria Teresa
AU  - Bardella MT
FAU - Ziberna, Fabiana
AU  - Ziberna F
FAU - Vatta, Serena
AU  - Vatta S
FAU - Szeles, Gyorgy
AU  - Szeles G
FAU - Pocsai, Zsuzsa
AU  - Pocsai Z
FAU - Karell, Kati
AU  - Karell K
FAU - Haimila, Katri
AU  - Haimila K
FAU - Adany, Roza
AU  - Adany R
FAU - Not, Tarcisio
AU  - Not T
FAU - Ventura, Alessandro
AU  - Ventura A
FAU - Maki, Markku
AU  - Maki M
FAU - Partanen, Jukka
AU  - Partanen J
FAU - Wijmenga, Cisca
AU  - Wijmenga C
FAU - Saavalainen, Paivi
AU  - Saavalainen P
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Validation Study
DEP - 20090303
PL  - United States
TA  - Immunogenetics
JT  - Immunogenetics
JID - 0420404
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Celiac Disease/*genetics/immunology
MH  - Genetic Testing/economics/*methods
MH  - HLA Antigens/*genetics
MH  - Haplotypes
MH  - Humans
MH  - *Polymorphism, Single Nucleotide
EDAT- 2009/03/04 09:00
MHDA- 2009/04/14 09:00
CRDT- 2009/03/04 09:00
PHST- 2008/11/05 00:00 [received]
PHST- 2009/02/13 00:00 [accepted]
PHST- 2009/03/04 09:00 [entrez]
PHST- 2009/03/04 09:00 [pubmed]
PHST- 2009/04/14 09:00 [medline]
AID - 10.1007/s00251-009-0361-3 [doi]
PST - ppublish
SO  - Immunogenetics. 2009 Apr;61(4):247-56. doi: 10.1007/s00251-009-0361-3. Epub 2009 
      Mar 3.