Neuromuscular Disorders
Volume 19, Issue 12 , Pages 822-824, December 2009

Oestrogen receptor alpha gene intronic polymorphisms and autoimmune myasthenia gravis in Caucasian women

  • Zsuzsanna Pal

      Affiliations

    • Center for Molecular Neurology, Department of Neurology, Semmelweis University, Budapest, Hungary
    • Department of Genetics, Cell- and Immunobiology, Semmelweis University, Budapest, Hungary
    • ,
  • Anikó Gal

      Affiliations

    • Center for Molecular Neurology, Department of Neurology, Semmelweis University, Budapest, Hungary
    • ,
  • Viktória Remenyi

      Affiliations

    • Center for Molecular Neurology, Department of Neurology, Semmelweis University, Budapest, Hungary
    • ,
  • Attila Tordai

      Affiliations

    • Molecular Diagnostics Laboratory, National Institute of Blood Transfusion, Budapest, Hungary
    • ,
  • Maria Judit Molnar

      Affiliations

    • Center for Molecular Neurology, Department of Neurology, Semmelweis University, Budapest, Hungary
    • Corresponding Author InformationCorresponding author. Address: Center for Molecular Neurology, Department of Neurology, Semmelweis University, Tömő u. 25-29, 1083 Budapest, Hungary. Tel./fax: +36 14591492.

Received 14 July 2009; received in revised form 1 September 2009; accepted 7 September 2009.

Abstract 

Autoimmune myasthenia gravis is a disorder with a complex pathomechanism in which sex hormones, in particular oestrogen, have long been considered to play a role. Here we report the result of a case-control study which evaluated the association of two oestrogen receptor alpha gene polymorphisms with myasthenia gravis in Caucasian patients.

PvuII (rs2234693) and XbaI (rs9340799) restriction fragment polymorphisms of the oestrogen receptor alpha gene were analyzed in 113 female myasthenia patients and 184 female controls. Distribution of these polymorphisms was compared with PCR-RFLP. Patients were divided into groups according to their oestrogen receptor alpha genotypes, and acetylcholine receptor antibody status and age of onset were compared between the groups.

We found no significant difference between any of the groups implying that these two polymorphisms probably do not play a role in the pathomechanism of myasthenia gravis in Caucasian women.

Keywords: Oestrogen receptor, Polymorphism, Myasthenia gravis, Autoimmune

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PII: S0960-8966(09)00596-3

doi:10.1016/j.nmd.2009.09.002

Neuromuscular Disorders
Volume 19, Issue 12 , Pages 822-824, December 2009

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