HLA-DR genotypes in familial rheumatoid arthritis: Increased frequency of protective and neutral alleles in a multicase family

Szilvia Zsilák, János Gál, László Hodinka, K. Rajczy, Attila Balog, S. Sipka, S. Baráth, A. Kapitány, E. Zilahi, Z. Szekanecz

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Objective. We describe a unique family where each of the 5 siblings in the second generation has rheumatoid arthritis (RA). Two other members of the family have RA and systemic lupus erythematosus (SLE), respectively. No members of previous generations in the family had documented inflammatory arthritis. Due to the suspected genetic predisposition, HLA-DR genotypes were determined in the affected siblings and their parents, children, and grandchildren. We investigated the possible role of various HLA-DR alleles in the evolution of RA in this multicase family. Methods. HLA-DRB1* alleles were determined by polymerase chain reaction using the sequence-specific primer-Olerup method. Results. The most common alleles in the 6 persons with RA were HLA-DRB1*07 and DRB1*15, which are known to be protective and neutral in RA. No patient or family member carried any HLA-DR4 alleles. Conclusion. HLA-DRB1*07 and DRB1*15 alleles are thought to be protective or neutral in RA. However, the majority of RA patients in the family and nearly half of all family members carried these alleles, suggesting a role of these genotypes in susceptibility to RA. No RA patient in this family carried HLA-DR4 alleles. Thus, in our rare family with 6 RA cases, an unexpected genetic background may be involved in the increased susceptibility to inflammatory arthritis.

Original languageEnglish
Pages (from-to)2299-2302
Number of pages4
JournalJournal of Rheumatology
Volume32
Issue number12
Publication statusPublished - Dec 2005

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HLA-DR Antigens
Rheumatoid Arthritis
Alleles
Genotype
HLA-DR4 Antigen
Arthritis
Siblings
HLA-DRB1 Chains
Genetic Predisposition to Disease
Systemic Lupus Erythematosus
Parents
Polymerase Chain Reaction

Keywords

  • Family tree
  • HLA-DRB1 alleles
  • Rheumatoid arthritis
  • Shared epitope

ASJC Scopus subject areas

  • Rheumatology
  • Immunology

Cite this

HLA-DR genotypes in familial rheumatoid arthritis : Increased frequency of protective and neutral alleles in a multicase family. / Zsilák, Szilvia; Gál, János; Hodinka, László; Rajczy, K.; Balog, Attila; Sipka, S.; Baráth, S.; Kapitány, A.; Zilahi, E.; Szekanecz, Z.

In: Journal of Rheumatology, Vol. 32, No. 12, 12.2005, p. 2299-2302.

Research output: Contribution to journalArticle

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abstract = "Objective. We describe a unique family where each of the 5 siblings in the second generation has rheumatoid arthritis (RA). Two other members of the family have RA and systemic lupus erythematosus (SLE), respectively. No members of previous generations in the family had documented inflammatory arthritis. Due to the suspected genetic predisposition, HLA-DR genotypes were determined in the affected siblings and their parents, children, and grandchildren. We investigated the possible role of various HLA-DR alleles in the evolution of RA in this multicase family. Methods. HLA-DRB1* alleles were determined by polymerase chain reaction using the sequence-specific primer-Olerup method. Results. The most common alleles in the 6 persons with RA were HLA-DRB1*07 and DRB1*15, which are known to be protective and neutral in RA. No patient or family member carried any HLA-DR4 alleles. Conclusion. HLA-DRB1*07 and DRB1*15 alleles are thought to be protective or neutral in RA. However, the majority of RA patients in the family and nearly half of all family members carried these alleles, suggesting a role of these genotypes in susceptibility to RA. No RA patient in this family carried HLA-DR4 alleles. Thus, in our rare family with 6 RA cases, an unexpected genetic background may be involved in the increased susceptibility to inflammatory arthritis.",
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AU - Zsilák, Szilvia

AU - Gál, János

AU - Hodinka, László

AU - Rajczy, K.

AU - Balog, Attila

AU - Sipka, S.

AU - Baráth, S.

AU - Kapitány, A.

AU - Zilahi, E.

AU - Szekanecz, Z.

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N2 - Objective. We describe a unique family where each of the 5 siblings in the second generation has rheumatoid arthritis (RA). Two other members of the family have RA and systemic lupus erythematosus (SLE), respectively. No members of previous generations in the family had documented inflammatory arthritis. Due to the suspected genetic predisposition, HLA-DR genotypes were determined in the affected siblings and their parents, children, and grandchildren. We investigated the possible role of various HLA-DR alleles in the evolution of RA in this multicase family. Methods. HLA-DRB1* alleles were determined by polymerase chain reaction using the sequence-specific primer-Olerup method. Results. The most common alleles in the 6 persons with RA were HLA-DRB1*07 and DRB1*15, which are known to be protective and neutral in RA. No patient or family member carried any HLA-DR4 alleles. Conclusion. HLA-DRB1*07 and DRB1*15 alleles are thought to be protective or neutral in RA. However, the majority of RA patients in the family and nearly half of all family members carried these alleles, suggesting a role of these genotypes in susceptibility to RA. No RA patient in this family carried HLA-DR4 alleles. Thus, in our rare family with 6 RA cases, an unexpected genetic background may be involved in the increased susceptibility to inflammatory arthritis.

AB - Objective. We describe a unique family where each of the 5 siblings in the second generation has rheumatoid arthritis (RA). Two other members of the family have RA and systemic lupus erythematosus (SLE), respectively. No members of previous generations in the family had documented inflammatory arthritis. Due to the suspected genetic predisposition, HLA-DR genotypes were determined in the affected siblings and their parents, children, and grandchildren. We investigated the possible role of various HLA-DR alleles in the evolution of RA in this multicase family. Methods. HLA-DRB1* alleles were determined by polymerase chain reaction using the sequence-specific primer-Olerup method. Results. The most common alleles in the 6 persons with RA were HLA-DRB1*07 and DRB1*15, which are known to be protective and neutral in RA. No patient or family member carried any HLA-DR4 alleles. Conclusion. HLA-DRB1*07 and DRB1*15 alleles are thought to be protective or neutral in RA. However, the majority of RA patients in the family and nearly half of all family members carried these alleles, suggesting a role of these genotypes in susceptibility to RA. No RA patient in this family carried HLA-DR4 alleles. Thus, in our rare family with 6 RA cases, an unexpected genetic background may be involved in the increased susceptibility to inflammatory arthritis.

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