title: Association of TRPM Channel Gene Polymorphisms with Systemic Sclerosis.
abstract: OBJECTIVE
  Systemic sclerosis (SSc) is an inflammatory disease characterized by vascular abnormalities and fibrosis. The aim of the present study was to investigate the possible role of transient receptor potential melastatin (TRPM) channel genes in the susceptibility and phenotype expression of SSc.
  
  
  METHODS
  A total of 339 patients with SSc and 302 healthy controls were studied. Genomic DNA was extracted from leukocytes of the peripheral blood, and 25 single nucleotide polymorphisms in the TRPM channel genes were analyzed by the BioMark HD dynamic array system.
  
  
  RESULTS
  There were marked increases in the CC genotype (94.7% vs 81.8%, p<0.0001) and C allele frequencies (97.0% vs. 90.1%, p<0.0001) in the TRPM3 rs1328142, and TT genotype (19.0% vs. 7.8%, p=0.0002) in TRPM5 rs34551253 (Ala456Thr) polymorphism in SSc patients when compared to controls. TRPM3 gene rs1328142 polymorphism was also markedly associated with disease phenotype. However, no associations with the other 23 polymorphisms studied were found.
  
  
  CONCLUSIONS
  This is the first study to examine the involvement of TRPM channel gene variations on the risk of SSc incidence. Our results suggest roles of TRPM3 and TRPM5 gene variants in the susceptibility to or clinical expression of SSc in the Turkish population.
authors.affiliation: Department of Medical Biology, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey serdaroztuzcu@gmail.com.
authors.forename: Serdar
authors.initials: S
authors.lastname: Oztuzcu
authors.affiliation: Department of Rheumatology, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey.
authors.forename: Ahmet M
authors.initials: AM
authors.lastname: Onat
authors.affiliation: Department of Rheumatology, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey.
authors.forename: Yavuz
authors.initials: Y
authors.lastname: Pehlivan
authors.affiliation: Department of Rheumatology, Faculty of Medicine, Marmara University, Istanbul, Turkey.
authors.forename: Fatma
authors.initials: F
authors.lastname: Alibaz-Oner
authors.affiliation: Department of Rheumatology, Faculty of Medicine, Yüzüncü Yil University, Van, Turkey.
authors.forename: Salim
authors.initials: S
authors.lastname: Donmez
authors.affiliation: Department of Rheumatology, Faculty of Medicine, Kahramanmaras Sütcü Imam University, Kahramanmaras, Turkey.
authors.forename: Gozde Y
authors.initials: GY
authors.lastname: Cetin
authors.affiliation: Department of Rheumatology, Faculty of Medicine, Firat University, Elazig, Turkey.
authors.forename: Servet
authors.initials: S
authors.lastname: Yolbas
authors.affiliation: Department of Medical Biology, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey.
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Bozgeyik
authors.affiliation: Department of Rheumatology, Faculty of Medicine, Istanbul Bilim University, Istanbul, Turkey.
authors.forename: Neslihan
authors.initials: N
authors.lastname: Yilmaz
authors.affiliation: Department of Rheumatology, Faculty of Medicine, Inönü University, Malatya, Turkey.
authors.forename: Metin
authors.initials: M
authors.lastname: Ozgen
authors.affiliation: Department of Rheumatology, Faculty of Medicine, Istanbul Bilim University, Istanbul, Turkey.
authors.forename: Yonca
authors.initials: Y
authors.lastname: Cagatay
authors.affiliation: Department of Rheumatology, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey.
authors.forename: Bunyamin
authors.initials: B
authors.lastname: Kisacik
authors.affiliation: Department of Rheumatology, Faculty of Medicine, Firat University, Elazig, Turkey.
authors.forename: Suleyman S
authors.initials: SS
authors.lastname: Koca
authors.affiliation: Department of Rheumatology, Faculty of Medicine, Trakya University, Edirne, Turkey.
authors.forename: Omer Nuri
authors.initials: ON
authors.lastname: Pamuk
authors.affiliation: Department of Rheumatology, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey.
authors.forename: Mehmet
authors.initials: M
authors.lastname: Sayarlioglu
authors.affiliation: Department of Rheumatology, Faculty of Medicine, Marmara University, Istanbul, Turkey.
authors.forename: Haner
authors.initials: H
authors.lastname: Direskeneli
authors.affiliation: Department of Medical Pharmacology, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey.
authors.forename: Abdullah T
authors.initials: AT
authors.lastname: Demiryurek
mesh_terms: D000328:Adult; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012595:Scleroderma, Systemic / Q000235:genetics* / Q000473:pathology; D050053:TRPM Cation Channels / Q000235:genetics*; D014421:Turkey
chemical_list: D050053:TRPM Cation Channels; C475667:TRPM3 protein, human; C404409:TRPM5 protein, human
keywords: Cation channels; haplotype; polymorphism; scleroderma; systemic sclerosis; transient receptor potential melastatin