title: Absence of the SLC22A12 gene mutation in Turkish population with primary gout disease.
abstract: 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.
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey, sezinyakut@yahoo.com.
authors.forename: Sezin
authors.initials: S
authors.lastname: Yakut
authors.forename: Zafer
authors.initials: Z
authors.lastname: Cetin
authors.forename: Mehmet
authors.initials: M
authors.lastname: Arman
authors.forename: Halide
authors.initials: H
authors.lastname: Akbas
authors.forename: Ayse E
authors.initials: AE
authors.lastname: Manguoglu
authors.forename: Guven
authors.initials: G
authors.lastname: Luleci
mesh_terms: D000328:Adult; D005260:Female; D020022:Genetic Predisposition to Disease; D006073:Gout / Q000097:blood / Q000235:genetics*; D006801:Humans; D033461:Hyperuricemia / Q000097:blood / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D027361:Organic Anion Transporters / Q000235:genetics*; D027701:Organic Cation Transport Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D014421:Turkey; D014527:Uric Acid / Q000097:blood
chemical_list: D027361:Organic Anion Transporters; D027701:Organic Cation Transport Proteins; C491241:SLC22A12 protein, human; D014527:Uric Acid