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Familial antiphospholipid antibody syndrome: criteria for disease and evidence for autosomal dominant inheritance.

Publication ,  Journal Article
Goel, N; Ortel, TL; Bali, D; Anderson, JP; Gourley, IS; Smith, H; Morris, CA; DeSimone, M; Branch, DW; Ford, P; Berdeaux, D; Roubey, RA ...
Published in: Arthritis Rheum
February 1999

OBJECTIVE: To develop diagnostic criteria for a familial form of antiphospholipid antibody syndrome (APS), identify families with >1 affected member, examine possible modes of inheritance, and determine linkage to potential candidate genes. METHODS: Family members of probands with primary APS were analyzed for clinical and laboratory abnormalities associated with APS. Families with > or =2 affected members were analyzed by segregation analysis and typed for candidate genetic markers. RESULTS: Seven families were identified. Thirty of 101 family members met diagnostic criteria for APS. Segregation studies rejected both environmental and autosomal recessive models, and the data were best fit by either a dominant or codominant model. Linkage analysis showed independent segregation of APS and several candidate genes. CONCLUSION: Clinical and laboratory criteria are essential to identify the spectrum of disease associated with APS. We believe a set of criteria was developed that can precisely define affected family members with APS. Modeling studies utilizing these criteria strongly support a genetic basis for disease in families with APS and suggest that a susceptibility gene is inherited in an autosomal dominant pattern. However, in these families, APS was not linked with HLA, Fas, or other candidate genes, including beta2-glycoprotein 1, HLA, T cell receptor beta chain, Ig heavy chain, antithrombin III, Fas ligand, factor V, complement factor H, IgK, and Fas.

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Published In

Arthritis Rheum

DOI

ISSN

0004-3591

Publication Date

February 1999

Volume

42

Issue

2

Start / End Page

318 / 327

Location

United States

Related Subject Headings

  • Polymerase Chain Reaction
  • Pedigree
  • Models, Genetic
  • Middle Aged
  • Male
  • Humans
  • Histocompatibility Testing
  • HLA-D Antigens
  • Genetic Linkage
  • Genes, Dominant
 

Citation

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Goel, N., Ortel, T. L., Bali, D., Anderson, J. P., Gourley, I. S., Smith, H., … Seldin, M. F. (1999). Familial antiphospholipid antibody syndrome: criteria for disease and evidence for autosomal dominant inheritance. Arthritis Rheum, 42(2), 318–327. https://doi.org/10.1002/1529-0131(199902)42:2<318::AID-ANR15>3.0.CO;2-5
Goel, N., T. L. Ortel, D. Bali, J. P. Anderson, I. S. Gourley, H. Smith, C. A. Morris, et al. “Familial antiphospholipid antibody syndrome: criteria for disease and evidence for autosomal dominant inheritance.Arthritis Rheum 42, no. 2 (February 1999): 318–27. https://doi.org/10.1002/1529-0131(199902)42:2<318::AID-ANR15>3.0.CO;2-5.
Goel N, Ortel TL, Bali D, Anderson JP, Gourley IS, Smith H, et al. Familial antiphospholipid antibody syndrome: criteria for disease and evidence for autosomal dominant inheritance. Arthritis Rheum. 1999 Feb;42(2):318–27.
Goel, N., et al. “Familial antiphospholipid antibody syndrome: criteria for disease and evidence for autosomal dominant inheritance.Arthritis Rheum, vol. 42, no. 2, Feb. 1999, pp. 318–27. Pubmed, doi:10.1002/1529-0131(199902)42:2<318::AID-ANR15>3.0.CO;2-5.
Goel N, Ortel TL, Bali D, Anderson JP, Gourley IS, Smith H, Morris CA, DeSimone M, Branch DW, Ford P, Berdeaux D, Roubey RA, Kostyu DD, Kingsmore SF, Thiel T, Amos C, Seldin MF. Familial antiphospholipid antibody syndrome: criteria for disease and evidence for autosomal dominant inheritance. Arthritis Rheum. 1999 Feb;42(2):318–327.
Journal cover image

Published In

Arthritis Rheum

DOI

ISSN

0004-3591

Publication Date

February 1999

Volume

42

Issue

2

Start / End Page

318 / 327

Location

United States

Related Subject Headings

  • Polymerase Chain Reaction
  • Pedigree
  • Models, Genetic
  • Middle Aged
  • Male
  • Humans
  • Histocompatibility Testing
  • HLA-D Antigens
  • Genetic Linkage
  • Genes, Dominant