Risk assessment of inflammation related CYP1A2, 2C9, 2D6, 3A4, and 4F2 polymorphisms in Turkish patients with multiple sclerosis

Date

2023-6

Author

Barut, Burak

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Multiple sclerosis (MS) is a complex, demyelinating, autoimmune disease that affects the central nervous system. Approximately, 2.8 million people in the world are suffering from MS. Cytochrome P450s (CYPs) are the superfamily of enzymes responsible for the metabolism of various endogenous, and exogenous compounds. There are a tremendous number of polymorphism studies investigating the role of CYPs in different diseases. However, polymorphism studies on inflammation related CYPs in MS are very limited. In this study, the relationship between SNPs in CYP1A2 (rs762551), CYP2C9 (rs1799853), CYP2D6 (rs16947), CYP3A4 (rs2740574), and CYP4F2 (rs2108622) and MS were investigated due to their significant roles in inflammation response via AA metabolism. 179 patients (125 female / 54 male), and 102 controls (58 female / 44 male) that have been recruited were genotyped by the PCR-RFLP method. Results were evaluated under additive, dominant, and recessive genetic models. Also, allele frequency differences between wild-type and polymorphic individuals were analyzed using SNPStats (Institut Català d'Oncologia). No significant difference between patients and the control group was observed in CYP2D6 (rs16947), CYP3A4 (rs2740574), and CYP4F2 (rs2108622). We found that the polymorphic CC allele of CYP1A2 (rs762551) might have disease causing effects for MS under additive (OR=3.02; 95%CI: 1.16-7.88; p=0.049), and recessive models (OR=2.84, 95%CI: 1.13-7.14, p=0.016). On the other hand, the polymorphic T allele in CYP2C9 (rs1799853) indicated protective effect (OR=0.14, 95%CI: 0.04-0.44, p<0.001) under the additive model.

Subject Keywords

Multiple sclerosis, Inflammation, Polymorphism, CYP

URI

https://hdl.handle.net/11511/104410

Collections

Graduate School of Natural and Applied Sciences, Thesis