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A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
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A twin study in Behçet's syndrome.

Seval Masatlioglu1, Emire Seyahi, Eda Tahir Turanli

  • 1Division of Rheumatology, Haydarpaşa Numune Research and Education Hospital, Istanbul, Turkey. sevalmasatlioglu@yahoo.com

Clinical and Experimental Rheumatology
|September 28, 2010
PubMed
Summary

Behçet's syndrome (BS) shows higher concordance in monozygotic (MZ) twins, suggesting genetic predisposition. However, persistent discordance in MZ twins highlights the need to explore non-genetic factors in BS development.

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Area of Science:

  • Genetics
  • Immunology
  • Epidemiology

Background:

  • Behçet's syndrome (BS) is a rare multisystem inflammatory disease.
  • Few case reports exist on monozygotic (MZ) twins with BS, and no formal twin studies have been conducted.
  • Understanding the genetic and environmental contributions to BS is crucial for developing effective management strategies.

Purpose of the Study:

  • To determine the frequency of monozygotic (MZ) and dizygotic (DZ) twin births in BS patients compared to a healthy population.
  • To investigate the concordance rate for BS among MZ and DZ twins.
  • To explore the role of genetic and non-genetic factors in the etiology of BS.

Main Methods:

  • A cohort of 1705 BS patients and 7761 healthy controls were surveyed for twin siblings.
  • Twinship was confirmed using HLA, DNA microsatellite markers, and blood group typing.
  • Concordance rates were assessed, and twins were followed for 8 years for disease emergence.

Main Results:

  • The frequency of MZ twin births was similar between BS patients (0.35%) and controls (0.36%).
  • DZ twin siblings were less frequent in BS patients (0.47%) compared to controls (1.19%).
  • Pairwise concordance rates were 2/6 for MZ twins and 1/8 for DZ twins, with genetic effects accounting for 41% of phenotypic variance.

Conclusions:

  • The similar frequency of MZ twin births suggests that genetic factors do not influence the occurrence of twin births in BS.
  • Higher concordance in MZ twins indicates a genetic predisposition to BS.
  • The persistent discordance in MZ twins after 8 years underscores the importance of non-genetic factors in BS pathogenesis.