National systemic lupus erythematosus prospective cohort in Saudi Arabia

Abstract

Systemic Lupus erythematosus (SLE) is a chronic multisystem, multifactorial inflammatory autoimmune disease. The SLE patients have 3 times increased risk of mortality based on international data with ethnicity playing an important impact on patients' morbidity and mortality. Descriptive studies from Saudi Arabia showed variation in clinical features from one region to another. Moreover, reliable inference from these studies is limited by study methodology and lack of translational data using biological samples to understand clinical phenotypes of Saudi SLE patients.The aim of this report is to describe the prospective study protocol of the National Systemic Lupus Erythematosus Cohort in Saudi Arabia. The purpose of this cohort study is multifold: first, to examine clinical characteristics and molecular phenotypes of Saudi SLE patients in relation to local environment and practices/lifestyles; second, to assess long-term outcomes of SLE in Saudi population and factors that influence favorable outcomes; third, to compare the effectiveness of various treatment regimens in Saudi SLE population.This study is a longitudinal prospective cohort study of adult, Saudi SLE patients using open cohort study design. Primary outcomes include disease-related outcomes (activity, improvement, and organ damage) and patient-reported outcomes (quality of life). Secondary outcomes include physiological and molecular modifications associated with changes in disease activity states. Results and analysis are in on-going study.This study provides a source of reliable data for clinical and translational research. This will allow us to have a holistic approach to SLE pathogenesis especially in Saudi population and may take us a step further toward much more personalized medicine.This protocol has been registered in NIH ClinicalTrial.gov (ClinicalTrial.gov identifier: NCT04604990) on October 27, 2020.Abbreviations: ACR = American College of Rheumatology, DMARD = disease-modifying anti-rheumatic drugs, IRB = institutional review board, KKUH

CYP2D6genetic polymorphisms in Saudi systemic lupus erythematosus patients

“…We intend to carry out the experiment using the whole-gene sequencing experiment on a larger longitudinal SLE cohort to confirm the study findings. 12 In conclusion, we identified a common CYP2D6 polymorphism in Saudi SLE patients. This finding may support the existence of unique genetic profiles for SLE patients with Saudi ancestral backgrounds.…”

“…Participants' characteristics were collected from the electronic health records database according to a standardized clinic procedure at KKUH, Riyadh, Saudi Arabia, and the SLE cohort protocol described previously. 12 The collected data included age, gender, and clinical results for SLE.…”

Characterization of Arabian Peninsula whole exomes: exploring high inbreeding features

“…Thus, the study of ROH length and burden of deleterious variation can provide important insights into the human demographic history and clinical applications [20,21]. Most of the WES available for Arabians were obtained in cohorts of patients [22][23][24][25]. Fewer WES are available for the general population: one obtained in Qatari populations identified eight hematologic variants, five metabolic, four eye-related, three inflammatory, three cardiovascular and three neurologic as the most common disease-related variants in those consanguineous cohorts [26]; an important cohort, the Greater Middle East (GME) Variome Project containing 2,497 individuals from 19 Arab and non-Arab Muslim countries [27] detected large and rare homozygous blocks, compatible with recent consanguineous matings, rendering easy to identify genes harbouring putatively high-impact homozygous variants.…”

Characterization of Arabian Peninsula whole exomes: Contributing to the catalogue of human diversity

“…Thus, the study of ROH length and burden of deleterious variation can provide important insights into the human demographic history and clinical applications ( Ceballos et al., 2018 ; Szpiech et al., 2013 ). Most of the WES available for Arabians were obtained in patient cohorts ( Almaghlouth et al., 2021 ; Monies et al., 2019 ; Project Team, 2015 ; Wahabi et al., 2017 ). Fewer WES are available for the general population: one obtained in Qatari populations identified eight hematologic variants, five metabolic, four eye-related, three inflammatory, three cardiovascular and three neurologic as the most common disease-related variants in those consanguineous cohorts ( Rodriguez-Flores et al., 2014 ); an important cohort, the Greater Middle East (GME) Variome Project containing 2,497 individuals from 19 Arab and non-Arab Muslim countries ( Scott et al., 2016 ) detected large and rare homozygous blocks, compatible with recent consanguineous matings, rendering easy to identify genes harboring putatively high-impact homozygous variants.…”