Apo e polymorphsim in multiple sclerosis and its effects on prognosis

Introduction: Multiple sclerosis (MS) is a chronic inflammatory disease with genetic features. The pathogenic relationship between APO E polymorphism and various neurodegenerative diseases including MS is a contraversial subject. It has been suggested that the ?4 allele may be associated with a more aggressive disese course. Based on these data we investigated the thesis that APO E alleles may be affecting the disease progress in MS population. We have investigated certain APO E genotypes in MS patients and healthy population and corralated APO E ?4 allele distributions with clinical sypmtomatic characteristics. Method: We included 50 patients (33 female and 17 male patient) diagnosed clinically as MS and 30 healthy people in to our study. APO E genotype and total APO E were studied with PCR and nephalometric method, respectively. Demographic data including age at onset, sexuality, duration of the disease, clinical subtype of MS and the presenting symptoms were recorded. EDSS is determined by using Kurtzke expended disability state score. The severity of the disesase (progression index/PI) is measured by EDSS/duration of the disease. The relationship between spesific alleles, clinical characteristics and the frequency of APO E genotypes were investigated. Results: The genotypes were not statistically significant different between the patients and the control group. There was no significant difference in ?4 allele frequency between patients and the controls (p=0,56). The ?4 allele was found to be significantly higher in male MS patients (p=0,007). In these patients the duration of the disease at the presentation time was shorter, EDSS was measured higher, serum total APO E levels were lower and PI was significantly higher (p=0,031). No significantly difference in APO E ?4 allele distribution was found in respect to the age at onset, MS clinical subtypes, EDSS, and PI. Presentation with visual symptomatology known as a good prognosis factor was not found in ?4 positive group and the presentation with sensory symptoms was 58 low. Serum APO E levels in ?4 positive patients investigated in the remission period were found to be lower but statistically insignificant. Conclusion: These results suggest that APO E genotype has no effect on the tendency to develop MS. But in male patients, an increased APO E ?4 frequency, incresead disease severity and a tendency to decrease in serum APO E levels were detected. We thought that the subject number and the genotypes of the study should be increased. Keywords: Multipl sclerosis, APO-E, genetics, genotype, neurology