Absence of the SLC22A12 gene mutation in Turkish population with primary gout disease

Yakut S., Cetin Z., Arman M., Akbas H., MANGUOĞLU A. E., Luleci G.

RHEUMATOLOGY INTERNATIONAL, cilt.33, sa.11, ss.2921-2925, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 33 Sayı: 11
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1007/s00296-012-2533-y
  • Dergi Adı: RHEUMATOLOGY INTERNATIONAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.2921-2925
  • Anahtar Kelimeler: SLC22A12, Hyperuricemia, Uric acid, Gout, URIC-ACID
  • Akdeniz Üniversitesi Adresli: Evet

Özet

The aim of the study was to examine whether SLC22A12 gene mutations might be influenced in primary gout disease. We included 32 patients with diagnosis of primary gout disease and 100 healthy volunteers. DNA was purified from peripheral blood, and all exons of the SLC22A12 gene were sequenced. We did not find any mutations in the SLC22A12 gene in all of the patients, but found 5 polymorphisms in exons 1 (g.T258C, g.C246T), 2 (g.C1246T) and 8 (g.T8011C) and in intron 9 (g.C8577T). However, we have not found any significant differences in the frequency of the individual genotypes between patients with primary gout disease and control group. In addition, the polymorphisms were not associated with hyperuricemia in our patients with primary gout disease. There was no previously reported mutation/polymorphisms of SLC22A12 gene in Turkish population. Our study is the first one in Turkish population and suggests that there is no association between primary gout disease and SLC22A12 gene polymorphisms. Sequence changes in the promotor and intronic regions of SLC22A12 gene should be investigated further with larger case groups.