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    Investigating the role of common and rare variants in multiplex multiple sclerosis families reveals an increased burden of common risk variation
    (Nature Portfolio, 2022) Everest, Elif; Ahangari, Mohammad; Uygunoglu, Ugur; Tutuncu, Melih; Bulbul, Alper; Saip, Sabahattin; Duman, Taskin
    Many multiple sclerosis (MS)-associated common risk variants as well as candidate low-frequency and rare variants have been identified; however, approximately half of MS heritability remains unexplained. We studied seven multiplex MS families, six of which with parental consanguinity, to identify genetic factors that increase MS risk. Candidate genomic regions were identified through linkage analysis and homozygosity mapping, and fully penetrant, rare, and low-frequency variants were detected by exome sequencing. Weighted sum score and polygenic risk score (PRS) analyses were conducted in MS families (24 affected, 17 unaffected), 23 sporadic MS cases, 63 individuals in 19 non-MS control families, and 1272 independent, ancestry-matched controls. We found that familial MS cases had a significantly higher common risk variation burden compared with population controls and control families. Sporadic MS cases tended to have a higher PRS compared with familial MS cases, suggesting the presence of a higher rare risk variation burden in the families. In line with this, score distributions among affected and unaffected family members within individual families showed that known susceptibility alleles can explain disease development in some high-risk multiplex families, while in others, additional genetic contributors increase MS risk.
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    Lack of Low-Frequency Complete-Penetrance Coding Variants Responsible from Familial Multiple Sclerosis
    (Lippincott Williams & Wilkins, 2019) Siva, Aksel; Everest, Elif; Uygunoglu, Ugur; Tutuncu, Melih; Saip, Sabahattin; Duman, Taskin; Turanli, Eda Tahir
    [Abstract Not Available]
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    Neuromyelitis Optica and Neuromyelitis Optica Spectrum Disorder Patients in Turkish Cohort Demographic, Clinical, and Laboratory Features
    (Lippincott Williams & Wilkins, 2015) Altintas, Ayse; Karabudak, Rana; Balci, Belgin P.; Terzi, Murat; Soysal, Aysun; Saip, Sabahattin; Kurne, Asli Tuncer
    Background: Neuromyelitis optica (NMO) is an immune-mediated, chronic relapsing, inflammatory disease characterized by severe attacks of optic neuritis and myelitis. Objective: To determine the demographic, clinical, and laboratory features; antibody status; and treatment modalities of patients with NMO and neuromyelitis optica spectrum disorders in a Turkish cohort from 11 centers. Methods: A total of 182 patients were included in this study. Data on age at disease onset, sex, type of attacks, clinical presentation, analysis of cerebrospinal fluid, serum antiaquaporin-4 antibody status, annual progression index, and medical and family histories were collected. Results: Mean age was 38.43 +/- 12.40 years (range, 13 to 75 y), and mean age at disease onset was 31.29 +/- 12.40 years (median, 29 y; range, 10 to 74 y). In NMO group, the rate of NMO immunoglobulin (Ig)G positivity was 62.5%. The annual progression index was significantly higher in the longitudinally extending spinal cord lesion. The mean Expanded Disability Status Scale score was higher in the late than early-onset NMO group. Conclusion: Our results revealed a lower rate of NMO IgG positivity, more severe disability in patients with NMO/neuromyelitis optica spectrum disorders presenting with either transverse myelitis or late-onset NMO, and no correlation between disability and NMO IgG status.