Population record
Saudi Arabia · 9 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| population | Saudi Arabia | “ObjectivesThis case-control study explored the association of sirtuin 1 polymorphisms (rs10997868 and rs730821) with metabolic parameters, smoking duration, sirtuin 1 levels, and the oxidative stress biomarker 8-hydroxy-2'-deoxyguanosine in healthy smokers in Saudi Arabia.MethodsGenomic DNA was isolated from peripheral blood samples, and rs10997868 and rs730821 polymorphism genotyping was performed for 43 healthy smokers and 33 healthy controls using real-time polymerase chain reaction.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia. BACKGROUND: To characterize the phenotypic, neurophysiological, radiological, pathological, and genetic profile of 33 Saudi Arabian families with dysferlinopathy. METHODS: A descriptive observational study was done on a cohort of 112 Saudi Arabian families with LGMD. Screening for the Dysferlin (DYSF) gene was done in a tertiary care referral hospital in Saudi Arabia. CONCLUSION: The prevalence of Dysferlinopathy was 29.46% in the native Saudi LGMD cohort.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Socioeconomic status dependent medical complexities in children with sickle cell disease in Saudi Arabia. We therefore studied the influence of SES indices on certain hematological and clinical parameters in children with SCD in Saudi Arabia. We included 32 female and 33 male patients aged 5-16 years, who were classified based upon their family income.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Screening for Lynch syndrome in young Saudi colorectal cancer patients using microsatellite instability testing and next generation sequencing. We previously identified 33 high risk cases for LS in the Saudi population by screening for microsatellite instability (MSI) in the tumor DNA of 284 young CRC patients. We estimate that 7% of CRC patients aged <60 years in Saudi Arabia are due to LS, potentially involving around 50 new cases per year.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “This study aims to combine 33 previously published patients with 23 who are described here for the first time to further delineate the phenotype of this syndrome. We conclude that C12orf57 variants should be considered in the etiology of developmental delay/intellectual disability, even when typical syndromic features are lacking, especially in those who trace their ancestry to Saudi Arabia where a founder C12orf57 mutation is among the most common recessive causes of intellectual disability.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Detection of genetic alterations in gastric cancer patients from Saudi Arabia using comparative genomic hybridization (CGH). BACKGROUND: The present study was conducted to discover genetic imbalances such as DNA copy number variations (CNVs) associated with gastric cancer (GC) and to examine their association with different genes involved in the process of gastric carcinogenesis in Saudi population. METHODS: Formalin-fixed paraffin-embedded (FFPE) tissues samples from 33 gastric cancer patients and 15 normal gastric samples were collected. While novel CNVs at 1p36.32 harbouring PRDM16, TP73 and TP73-AS1 genes showed 11 gains and 2 losses for 11 different GC cases and this region is not reported yet in Database of Genomic Variants may be specific to Saudi population.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients. PurposeHearing loss is more prevalent in the Saudi Arabian population than in other populations; however, the full range of genetic etiologies in this population is unknown. We report the genetic findings from 33 Saudi hearing-loss probands of tribal ancestry, with predominantly prelingual severe to profound hearing loss.MethodsTesting was performed over the course of 2012-2016, and involved initial GJB2 sequence and GJB6-D13S1830 deletion screening, with negative cases being reflexed to a next-generation sequencing panel with 70, 71, or 87 hearing-loss genes.ResultsA "positive" result was reached in 63% of probands, with two recurrent OTOF variants (p.Glu57* and p.Arg1792His) accountable for a third of all "positive" cases. Interestingly, only one "positive" diagnosis had a DFNB1-related cause, due to a homozygous GJB6-D13S1830 deletion, and no sequence variants in GJB2 were detected.ConclusionOur findings implicate OTOF as a potential major contributor to hearing loss in the Saudi population, while highlighting the low contribution of GJB2, thus offering important considerations for clinical testing strategies for Saudi patients. Further screening of Saudi patients is needed to characterize the genetic spectrum in this population.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Ulcerative colitis in Saudi Arabia: a retrospective analysis of 33 cases treated in a regional referral hospital in Gizan. Information on its occurrence among Saudi is scant and limited to a few reports from urban populations. AIM OF STUDY: to assess the frequency and clinico-pathologic pattern of this disease in a rural population in Gizan region, Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Forty-seven of the patients were Saudi. In 33 patients colonoscopy was done without premedication, 11 patient had sedation while 22 had general anesthesia.” | 0.95 | saudi_context_rules_v1 |