Association of myasthenia gravis with polymorphisms in the gene of histamine N-methyltransferase

作者：Kellermayer Blanka; Polgar Noemi; Pal Jozsef; Banati Miklos; Maasz Anita; Kisfali Peter; Hosszu Zsolt; Juhasz Annamaria; Jensen Henrik Boye; Tordai Attila; Rozsa Csilla; Melegh Bela; Illes Zsolt^*

来源：Human Immunology, 2013, 74(12): 1701-1704.

DOI：10.1016/j.humimm.2013.07.016

Introduction: Histamine N-methyltransferase (HNMT) is the main metabolizing enzyme of histamine. Histamine modulates immune responses and plays a role in the pathogenesis of autoimmune disorders. %26lt;br%26gt;Methods: The non-synonymous HNMT C314T polymorphism and the A939G single-nucleotide polymorphism (SNP) influencing HNMT mRNA stability were genotyped in 213 patients with myasthenia gravis (MG) and 342 healthy controls. %26lt;br%26gt;Results: The carrier frequency of the A allele of the A939G SNP was over-represented among patients with anti-AchR and anti-Titin antibodies (P = 0.05 and P = 0.004, respectively); the presence of the minor G allele was protective against anti-AchR and anti-Titin positive MG (OR = 0.67 and OR = 0.54, respectively). The combination of the G allele carrier status with wild-type C314C homozygosity was also protective against MG (OR = 0.55, P = 0.008) and against the development of anti-AchR antibodies (OR = 0.37, P = 0.01). %26lt;br%26gt;Discussion: The A939G HNMT polymorphism is associated with autoimmune MG, while no association with C314T SNP was found.

• 出版日期2013-12