RGD Reference Report - The role of HLA molecules in susceptibility to chronic rheumatic heart disease. - Rat Genome Database

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The role of HLA molecules in susceptibility to chronic rheumatic heart disease.

Authors: Kudat, H  Telci, G  Sozen, AB  Oguz, F  Akkaya, V  Ozcan, M  Atilgan, D  Carin, M  Guven, O 
Citation: Kudat H, etal., Int J Immunogenet. 2006 Feb;33(1):41-4.
RGD ID: 5147643
Pubmed: PMID:16426242   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1744-313X.2006.00562.x   (Journal Full-text)

Only a small fraction of the streptococcal pharyngitis progress to rheumatic carditis, which implies that environmental, host and microbial factors interact to cause an aberrant immune response against the antigens of the microorganism that cross-react with cardiac tissues. Although there are numerous studies and a general consensus on the relation between human leucocyte antigen (HLA) class II antigens and rheumatic heart disease (RHD), the details and the culprit antigens are still controversial. The study was undertaken to examine 100 patients with chronic RHD and 100 controls for HLA class I and class II antigens for differences in prevalence. All samples were typed at the HLA-DRB1/3/4/5 and DQB1 loci by the sequence-specific primer (PCR-SSP) method at low resolution. For HLA class I antigens, HLA-B13 frequency was marginally increased in patients with RHD compared to controls without reaching statistical significance. For class II antigens, RHD patients had higher frequencies for HLA-DRB1*01 (RHD 24%, controls 10%), DRB1*04 (RHD 35%, controls 26%), DRB1*07 (RHD 18%, controls 11%) and HLA-DQB1*02 (RHD 32%, controls 17%) without reaching statistical significance, and significantly lower frequencies for DRB1*13 (Pc < 0.003, OR: 5.69), DRB5* (Pc < 0.003, OR: 33) and DRB3* (Pc = 0.03, OR: 2.66) compared to controls. It was concluded that host, microbial and environmental factors collude to create acute rheumatic fever (RF) and chronic rheumatic valve disease. The HLA-DRB1*13, DRB5* and DRB3* were protective against the development of rheumatic valve damage.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
rheumatic heart disease susceptibilityISOHLA-DRB1 (Homo sapiens)5147643; 5147643DNA:polymorphism:cds:HLA-DRB1*13 (human)RGD 
rheumatic heart disease susceptibilityIAGP 5147643DNA:polymorphism:cds:HLA-DRB1*13 (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormal mitral valve morphology susceptibilityIAGP 5147643DNA:polymorphism:cds:HLA-DRB1*13RGD 
Objects Annotated

Genes (Rattus norvegicus)
RT1-Db1  (RT1 class II, locus Db1)

Genes (Mus musculus)
H2-Eb1  (histocompatibility 2, class II antigen E beta)

Genes (Homo sapiens)
HLA-DRB1  (major histocompatibility complex, class II, DR beta 1)


Additional Information