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Two distinctive HLA haplotypes harbor the B27 alleles negatively or positively associated with ankylosing spondylitis in Sardinia: implications for disease pathogenesis.
Arthritis Rheum. 2003 May; 48(5):1385-9.AR

Abstract

OBJECTIVE

To compare haplotype distribution in HLA-B27-positive patients with ankylosing spondylitis (AS) and healthy control subjects possessing either AS-associated HLA-B27 alleles or the non-AS-associated HLA-B*2709 allele.

METHODS

DNA samples from 47 HLA-B27-positive patients with AS and 76 HLA-B27-positive healthy controls (19 positive and 57 negative for B*2709) living in different areas of Sardinia were collected and typed for HLA class I and class II alleles. The third exon of the B27 gene was analyzed for the presence of Asp(116) or His(116), which differentiates B*2709 from the other two B27 subtypes (B*2705 and B*2702) that are mostly found in Sardinia. The parents of 6 subjects positive for B*2709 were also typed for HLA class I and class II alleles. Statistical analysis was performed by Fisher's exact test.

RESULTS

In Sardinia, the B27 alleles conferring susceptibility to AS appear to be more frequently carried by a haplotype (A2;B27;Cw2;DR16) that reaches its highest frequency in patients with AS (A2 80.8%, B27 100%, Cw2 83%, and DR16 74.5%). Conversely, the non-AS-associated B*2709 allele is more frequently found together with other HLA alleles whose frequencies are inversely correlated with the disease (A32 or A30, Cw1, and DR12). Familial analysis of 6 subjects positive for HLA-B*2709 confirmed the existence of a "Sardinian" haplotype that is not associated with AS (A32;B*2709;Cw1;DR12).

CONCLUSION

In Sardinia, 2 distinct haplotypes harbor the non-AS-associated HLA-B*2709 allele or the AS-associated B27 alleles. Our findings are compatible with the hypothesis that other genes within the HLA region besides HLA-B27 may play some role in conferring susceptibility to AS.

Authors+Show Affiliations

University La Sapienza, Rome, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

12746911

Citation

Fiorillo, Maria Teresa, et al. "Two Distinctive HLA Haplotypes Harbor the B27 Alleles Negatively or Positively Associated With Ankylosing Spondylitis in Sardinia: Implications for Disease Pathogenesis." Arthritis and Rheumatism, vol. 48, no. 5, 2003, pp. 1385-9.
Fiorillo MT, Cauli A, Carcassi C, et al. Two distinctive HLA haplotypes harbor the B27 alleles negatively or positively associated with ankylosing spondylitis in Sardinia: implications for disease pathogenesis. Arthritis Rheum. 2003;48(5):1385-9.
Fiorillo, M. T., Cauli, A., Carcassi, C., Bitti, P. P., Vacca, A., Passiu, G., Bettosini, F., Mathieu, A., & Sorrentino, R. (2003). Two distinctive HLA haplotypes harbor the B27 alleles negatively or positively associated with ankylosing spondylitis in Sardinia: implications for disease pathogenesis. Arthritis and Rheumatism, 48(5), 1385-9.
Fiorillo MT, et al. Two Distinctive HLA Haplotypes Harbor the B27 Alleles Negatively or Positively Associated With Ankylosing Spondylitis in Sardinia: Implications for Disease Pathogenesis. Arthritis Rheum. 2003;48(5):1385-9. PubMed PMID: 12746911.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Two distinctive HLA haplotypes harbor the B27 alleles negatively or positively associated with ankylosing spondylitis in Sardinia: implications for disease pathogenesis. AU - Fiorillo,Maria Teresa, AU - Cauli,Alberto, AU - Carcassi,Carlo, AU - Bitti,Pier Paolo, AU - Vacca,Alessandra, AU - Passiu,Giuseppe, AU - Bettosini,Francesca, AU - Mathieu,Alessandro, AU - Sorrentino,Rosa, PY - 2003/5/15/pubmed PY - 2003/5/31/medline PY - 2003/5/15/entrez SP - 1385 EP - 9 JF - Arthritis and rheumatism JO - Arthritis Rheum VL - 48 IS - 5 N2 - OBJECTIVE: To compare haplotype distribution in HLA-B27-positive patients with ankylosing spondylitis (AS) and healthy control subjects possessing either AS-associated HLA-B27 alleles or the non-AS-associated HLA-B*2709 allele. METHODS: DNA samples from 47 HLA-B27-positive patients with AS and 76 HLA-B27-positive healthy controls (19 positive and 57 negative for B*2709) living in different areas of Sardinia were collected and typed for HLA class I and class II alleles. The third exon of the B27 gene was analyzed for the presence of Asp(116) or His(116), which differentiates B*2709 from the other two B27 subtypes (B*2705 and B*2702) that are mostly found in Sardinia. The parents of 6 subjects positive for B*2709 were also typed for HLA class I and class II alleles. Statistical analysis was performed by Fisher's exact test. RESULTS: In Sardinia, the B27 alleles conferring susceptibility to AS appear to be more frequently carried by a haplotype (A2;B27;Cw2;DR16) that reaches its highest frequency in patients with AS (A2 80.8%, B27 100%, Cw2 83%, and DR16 74.5%). Conversely, the non-AS-associated B*2709 allele is more frequently found together with other HLA alleles whose frequencies are inversely correlated with the disease (A32 or A30, Cw1, and DR12). Familial analysis of 6 subjects positive for HLA-B*2709 confirmed the existence of a "Sardinian" haplotype that is not associated with AS (A32;B*2709;Cw1;DR12). CONCLUSION: In Sardinia, 2 distinct haplotypes harbor the non-AS-associated HLA-B*2709 allele or the AS-associated B27 alleles. Our findings are compatible with the hypothesis that other genes within the HLA region besides HLA-B27 may play some role in conferring susceptibility to AS. SN - 0004-3591 UR - https://www.unboundmedicine.com/medline/citation/12746911/Two_distinctive_HLA_haplotypes_harbor_the_B27_alleles_negatively_or_positively_associated_with_ankylosing_spondylitis_in_Sardinia:_implications_for_disease_pathogenesis_ DB - PRIME DP - Unbound Medicine ER -