title: Association between Thr21Met and Ser89Asn polymorphisms of the urotensin II gene and systemic sclerosis.
abstract: OBJECTIVE
  Systemic sclerosis (SSc) is an autoimmune chronic fibrotic disorder. Urotensin II (U-II) is predominantly a vasoactive peptide with fibrotic and prothrombotic features. Like endothelin-1 (ET-1), U-II could play an important role in SSc pathogenesis. We evaluated the possible role of the U-II gene polymorphisms (Thr21Met and Ser89Asn) in the genetic susceptibility to SSc in a Turkish population.
  
  
  METHODS
  A total of 189 patients with SSc and 205 healthy controls were enrolled in our study. We analyzed the genotype and allele frequencies of the U-II (UTS2) gene polymorphisms Thr21Met and Ser89Asn in patients with SSc and in controls.
  
  
  RESULTS
  We found that the Thr21Met polymorphism of the UTS2 gene was markedly associated with the risk of developing SSc (p < 0.0001), but there was no relationship between the Ser89Asn polymorphism and SSc (p > 0.05). Two haplotypes (MS and TS) were markedly associated with SSc (p < 0.05). There were significant associations between the genotype and allele frequencies of UTS2 gene Thr21Met polymorphism and cases with diffuse or limited SSc, systemic or lung involvement, finger flexion deformity, pitting scars at the fingertips, positive anticentromere, or positive antitopoisomerase 1 antibody groups.
  
  
  CONCLUSIONS
  Our study shows the association between Thr21Met, but not Ser89Asn, in the UTS2 gene and SSc. The results strongly suggest that this single-nucleotide polymorphism may be an important risk factor in the development of SSc, and a powerful indicator of severe skin and lung involvement in patients with SSc.
authors: Gaziantep University, School of Medicine, Department of Internal Medicine, Sahinbey Medical Center, Gaziantep, TR-27310, Turkey. drpehlivan@hotmail.com
authors: Yavuz
authors: Y
authors: Pehlivan
authors: Bulent
authors: B
authors: Gogebakan
authors: Serdar
authors: S
authors: Oztuzcu
authors: Metin
authors: M
authors: Ozgen
authors: Gözde Yildirim
authors: GY
authors: Cetin
authors: Recep
authors: R
authors: Bayraktar
authors: Beyhan
authors: B
authors: Cengiz
authors: Bunyamin
authors: B
authors: Kisacik
authors: Suleyman Serdar
authors: SS
authors: Koca
authors: Salim
authors: S
authors: Donmez
authors: Mehmet
authors: M
authors: Sayarlioglu
authors: Abdullah T
authors: AT
authors: Demiryurek
authors: Ahmet Mesut
authors: AM
authors: Onat
mesh_terms: D000328:Adult; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012595:Scleroderma, Systemic / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D012694:Serine / Q000235:genetics*; D013912:Threonine / Q000235:genetics*; D014421:Turkey; D014579:Urotensins / Q000235:genetics*
chemical_list: D014579:Urotensins; D013912:Threonine; D012694:Serine; C029677:urotensin II