The prevalence and severity of Multiple Sclerosis (MS) varies across different ethnicities, with a tendency to a more severe phenotype in non-Caucasian populations. Our objective was to evaluate the differences in disease phenotype between Ashkenazi Jewish and Non-Ashkenazi Jewish patients in Israel. We conducted a single center retrospective cohort study in which subjects were assigned to Ashkenazi or Non-Ashkenazi groups according to self-reported ancestry and disease severity was assessed using the expanded disability status (EDSS), MS severity score (MSSS), progression index (PI) and MRI metrics. 330 Ashkenazi Jewish (AJ) and 207 Non-Ashkenazi Jewish patients (Non-AJ) were included. Non-AJ had a younger age of disease onset (32.7 years vs. 35.7 years, p = 0.05), with a lower proportion of females (62.3% vs. 73.3%, p = 0.01). These differences were maintained within the subgroup of Israeli native patients. Ethnicity was a significant predictor of MSSS (β = 0.601, p = 0.003), with a higher estimate than that of other epidemiological factors. To conclude, Non-AJ patients had an earlier age of onset and a more disabling disease as well as having a more balanced female to male ratio compared to AJ patients. These findings demonstrate variability of disease phenotype within Caucasian patient's dependent on their ethnicity despite equivalent access to healthcare services.
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http://dx.doi.org/10.1038/s41598-022-08565-7 | DOI Listing |
Mol Biol Rep
July 2024
Department of Rheumatology, Faculty of Medicine, Ankara University, Ankara, Türkiye.
Background: Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease primarily affecting individuals of Turkish, Armenian, Arab, and non-Ashkenazi Jewish descent, caused by mutations in the MEFV gene. The aim of this study was to review the common genotype distributions of MEFV variants and mutations in the Turkish population and evaluate rare mutations.
Methods And Results: The study included 2984 patients who applied to Ankara University Ibni Sina Hospital Immunology Laboratory with clinical suspicion of FMF between 2004 and 2014.
Sci Rep
June 2024
Department of Ophthalmology, Hadassah-Hebrew University Medical Center, POB 12000, 91120, Jerusalem, Israel.
The risk of developing age-related macular degeneration (AMD) is influenced by genetic background. In 2016, the International AMD Genomics Consortium (IAMDGC) identified 52 risk variants in 34 loci, and a polygenic risk score (PRS) from these variants was associated with AMD. The Israeli population has a unique genetic composition: Ashkenazi Jewish (AJ), Jewish non-Ashkenazi, and Arab sub-populations.
View Article and Find Full Text PDFCancer
August 2024
Faculty of Medical and Health Sciences, School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Purpose: Several recurring pathogenic variants (PVs) in BRCA1/BRCA2 and additional cancer susceptibility genes are described in the ethnically diverse Israeli population. Since 2019, testing for these recurring PVs is reimbursed unselectively for all patients with breast cancer (BC) in Israel. The aim was to evaluate the yield of genotyping for these PVs in non-Ashkenazi Jewish (AJ) patients with BC diagnosed ≥age 50 years.
View Article and Find Full Text PDFJ Neurol
July 2024
The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder. It is mostly sporadic, with the C9orf72 repeat expansion being the most common genetic cause. While the prevalence of C9orf72-ALS in patients from different populations has been studied, data regarding the yield of C9orf72 compared to an ALS gene panel testing is limited.
View Article and Find Full Text PDFOral Dis
July 2024
Department of Dermatology, Hadassah Medical Center, Jerusalem, Israel.
Objective: The familial type of oral lichen planus (OLP) is rare, with a paucity of data regarding its clinical significance. Our objective was to characterize patients with familial OLP.
Methods: Families with at least two members diagnosed with OLP were included.
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