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Investigation of angiotensin converting enzyme gene polymorphism in multiple sclerosis patients

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2024
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Abstract (EN)

Multiple sclerosis (MS) is a chronic, inflammatory, and demyelinating disease that may cause loss of motor function, muscle weakness, spasticity, coordination disorder, vision loss, cognitive disorders, and urinary incontinence, thereby reducing patients' comfort. MS is a multifactorial autoimmune disease where genetic predisposition plays a significant role. Examining the prospective role of the ACE I/D polymorphism as an MS risk factor is the primary motivation for this research. The study involved a total of 183 participants, comprising 90 patients diagnosed with MS from the same neurology clinic and 93 individuals who volunteered for the control group. DNA was extracted from blood samples by employing the real-time polymerase chain reaction (PCR) technique to identify ACE gene I/D polymorphisms. A comparison was made between the genetic characteristics of the polymorphisms in the subjects versus control sections, as well as the demographic and previously collected laboratory data for participant follow-up. There were no substantial variations observed in the abundance of ACE I/D polymorphism genotypes between the MS and healthy comparison groups (X² (2) =0.264, p=0.877). Similarly, there were no significant variations in allele frequency between the control and sick groups (X²(1)=0.07; p=0.777). When examining laboratory data based on genotypic distribution, it was discovered that, with the exception of TSH, the remaining laboratory measures showed no variation between genotypes. Individuals with the DD genotype exhibited considerably lower TSH levels compared to those with II and ID genotypes. As a secondary finding of the study, while comparing the laboratory and demographic data among individuals with MS and the unaffected group, it was noted that MS patients had lower weight, creatinine levels, triglycerides, and HbA1c levels, while having higher HDL and TSH levels (p>0.05). After all, as a primary endpoint, the ACE I/D genetic variation does not have any correlation with the progression of MS. As a secondary endpoint, we suggest that the differences in laboratory parameters between patient and control groups may be due to nutritional problems, autoimmunity, or the effects of medications related to disease severity. Therefore, further studies with a larger number of patients and detailed demographic data analysis would be beneficial.

Author

Sadettin İlker Güvenç

How to Cite

Sadettin İlker Güvenç (Doctorate thesis). Investigation of angiotensin converting enzyme gene polymorphism in multiple sclerosis patients, 2024, Yeditepe University.

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