Analysis of genetic polymorphisms of glutathione S‐transferase (GSTP1, GSTM1, and GSTT1) in Polish patients with systemic sclerosis

• Published in: International journal of rheumatic diseases Vol. 22; no. 12; pp. 2119 - 2124
• Main Authors: Barańska, Małgorzata, Rychlik‐Sych, Mariola, Skrętkowicz, Jadwiga, Dudarewicz, Michał, Dziankowska‐Bartkowiak, Bożena, Owczarek, Jacek, Orszulak–Michalak, Daria, Waszczykowska, Elżbieta
• Format: Journal Article
• Language: English
• Published: England Wiley Subscription Services, Inc 01.12.2019
• Subjects: Adolescent; Adult; Aged; Autoimmune diseases; Biotransformation; Case-Control Studies; Connective tissues; Female; Gene polymorphism; Genetic analysis; Genetic Association Studies; Genetic Predisposition to Disease; Glutathione; Glutathione S-Transferase pi - genetics; Glutathione transferase; Glutathione Transferase - genetics; GSTM1 protein; GSTs polymorphism; GSTT1 protein; Humans; Male; Middle Aged; Phenotype; Poland - epidemiology; Pollutants; Polymerase chain reaction; Polymorphism; Polymorphism, Genetic; Restriction fragment length polymorphism; Risk Assessment; Risk Factors; Scleroderma; Scleroderma, Systemic - diagnosis; Scleroderma, Systemic - enzymology; Scleroderma, Systemic - epidemiology; Scleroderma, Systemic - genetics; Systemic sclerosis; Young Adult; Poland; autoimmune diseases; GSTs polymorphism; systemic sclerosis
• ISSN: 1756-1841; 1756-185X; 1756-185X
• DOI: 10.1111/1756-185X.13712

Aim It is commonly assumed that a genetically determined polymorphism of xenobiotic biotransformation plays a particular role in the development of such disease entities in which chemical compounds and environmental pollutants are relevant etiologic factors. Systemic sclerosis (SSc, scleroderma) belongs to diseases of connective tissue, characterized by chronic inflammation developing on an autoimmune background. The current state of knowledge on the etiopathogenesis of autoimmune diseases indicates the existence of many factors affecting the development of the disease, including factors of the external environment. Considering all the above, a study on a role of genetic polymorphisms of glutathione S‐transferase has been undertaken in which predisposition to SSc in a Polish population was assessed. Methods The study was carried out in 161 subjects: 61 patients with SSc and 100 healthy volunteers. A determination of the polymorphism of GSTM1 and GSTT1 was performed with a multiplex PCR (polymerase chain reaction). The GSTP1 polymorphism was determined by using the PCR restriction fragment length polymorphism. Results The risk of developing SSc was 3‐fold higher for persons with the null GSTM1 and GSTT1 genotypes (odds ratio [OR] = 3.3; P = .0051). The risk for SSc was also demonstrated to be over 2.5‐fold greater in the GSTP1 Ile/Val genotype individuals (OR = 2.62; P = .0037). Carriers of the GSTP1 Val variant allele had a greater than 2‐fold increase in SSc risk (OR = 2.41; P = .0006). Conclusion The genetic polymorphism of glutathione S‐transferase may affect the risk of SSc in a Polish population.