title: The functional SLC11A1 gene polymorphisms are associated with sarcoidosis in Turkish population.
abstract: Sarcoidosis (SA) is an immune-mediated multisystemic disorder of unknown etiology characterized by the accumulation of lymphocytes, mononuclear phagocytes and epithelioid cell granulomas involved in different organs and tissues. The belief that genetics contribute to SA etiology is supported by twin studies, disease clustering in families and racial differences in incidence rates. Involvements of SLC11A1 in macrophage function and activation, makes it an attractive candidate gene for immune-mediated and infectious diseases. We investigated the association between SA and four polymorphisms of the SLC11A1 gene, including a single nucleotide change in intron 4 (INT4); a nonconservative single-base substitution at codon 543 (D543N); a TGTG deletion in the 3' untranslated region; and the functional (GT)(n) repeat polymorphism in the 5' region, in 95 Turkish SA patients and 150 healthy controls, by using amplification refractory mutation system-polymerase chain reaction and sequencing. We found significant association between SA and INT4 G/C allele frequency (P = 0.0000; odds ratio 2.75; 95% confidence interval 1.68-4.52) and 5'(GT)(n) allele 2/3 frequency (P = 0.0000; odds ratio 2.69; 95% confidence interval 1.61-4.47) suggesting that SLC11A1 might be a plausible candidate gene for SA.
authors.affiliation: Department of Molecular Biology and Genetics, Faculty of Science, Istanbul University, Istanbul, Turkey.
authors.forename: Pinar
authors.initials: P
authors.lastname: Akçakaya
authors.forename: Benura
authors.initials: B
authors.lastname: Azeroglu
authors.forename: Ipek
authors.initials: I
authors.lastname: Even
authors.forename: Omer
authors.initials: O
authors.lastname: Ates
authors.forename: Hatice
authors.initials: H
authors.lastname: Turker
authors.forename: Gul
authors.initials: G
authors.lastname: Ongen
authors.forename: Aysegul
authors.initials: A
authors.lastname: Topal-Sarikaya
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D027682:Cation Transport Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012507:Sarcoidosis / Q000235:genetics*; D014374:Tuberculin Test; D014421:Turkey; D055815:Young Adult; D000099173:Natural Resistance-associated Macrophage Protein 1
chemical_list: D027682:Cation Transport Proteins; D000099173:Natural Resistance-associated Macrophage Protein 1