Serdar Oztuzcu1, Ahmet M Onat2, Yavuz Pehlivan2, Fatma Alibaz-Oner3, Salim Donmez4, Gozde Y Cetin5, Servet Yolbas6, Ibrahim Bozgeyik7, Neslihan Yilmaz8, Metin Ozgen9, Yonca Cagatay8, Bunyamin Kisacik2, Suleyman S Koca6, Omer Nuri Pamuk10, Mehmet Sayarlioglu11, Haner Direskeneli3, Abdullah T Demiryurek12. 1. Department of Medical Biology, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey serdaroztuzcu@gmail.com. 2. Department of Rheumatology, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey. 3. Department of Rheumatology, Faculty of Medicine, Marmara University, Istanbul, Turkey. 4. Department of Rheumatology, Faculty of Medicine, Yüzüncü Yil University, Van, Turkey. 5. Department of Rheumatology, Faculty of Medicine, Kahramanmaras Sütcü Imam University, Kahramanmaras, Turkey. 6. Department of Rheumatology, Faculty of Medicine, Firat University, Elazig, Turkey. 7. Department of Medical Biology, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey. 8. Department of Rheumatology, Faculty of Medicine, Istanbul Bilim University, Istanbul, Turkey. 9. Department of Rheumatology, Faculty of Medicine, Inönü University, Malatya, Turkey. 10. Department of Rheumatology, Faculty of Medicine, Trakya University, Edirne, Turkey. 11. Department of Rheumatology, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey. 12. Department of Medical Pharmacology, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey.
Abstract
BACKGROUND/AIM: 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. MATERIALS AND 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. CONCLUSION: 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.
BACKGROUND/AIM: 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. MATERIALS AND 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 TRPM3rs1328142, and TT genotype (19.0% vs. 7.8%, p=0.0002) in TRPM5rs34551253 (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. CONCLUSION: 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: G Koc; A Soyocak; D Duzgun Ergun; N Pastaci Ozsobaci; S Andac-Ozturk; S Ergun Journal: Biol Trace Elem Res Date: 2021-11-12 Impact factor: 3.738
Authors: Steven J Kleene; Brian J Siroky; Julio A Landero-Figueroa; Bradley P Dixon; Nolan W Pachciarz; Lu Lu; Nancy K Kleene Journal: PLoS One Date: 2019-03-18 Impact factor: 3.240