Association of a single nucleotide polymorphism in SOD2 with susceptibility for the development of diabetic nephropathy in patients with type 2 diabetes: A Saudi population study.

INTRODUCTION: One of the complications of diabetes mellitus (DM) is diabetic nephropathy (DN), which plays a significant role in the progression of end-stage renal disease. Oxidative stress is implicated in DN pathogenesis, and genetic variations in antioxidant enzymes such as superoxide dismutase 2 (SOD2) and catalase (CAT) may contribute to the susceptibility. This study aimed to investigate the potential association between single nucleotide polymorphisms (SNPs) in antioxidant enzymes, specifically SOD2 rs4880 and CAT rs769217, and the risk of T2D and susceptibility to DN within the Saudi population. METHODS: This case-control study included 150 participants, comprising 50 patients with T2D without DN (group 1), 50 patients with T2D with DN (group 2), and 50 healthy participants (group 3). The samples were genotyped using real-time PCR for SOD2 rs4880 and CAT rs769217 SNPs. Sanger sequencing was used for validation. Statistical analyses were performed to explore associations between these SNPs and T2D with or without DN. RESULTS: No significant difference was observed in CAT rs769217 expression between the groups. However, a significant difference was observed in SOD2 rs4880 expression between the healthy controls and patients with T2D with DN (p = .028). Furthermore, SOD2 rs4880 was associated with approximately threefold increased risk of DN in patients with T2D compared to that in healthy participants (odds ratio [OR] = 2.99 [1.31-6.83]). Validation through Sanger sequencing further confirmed these findings. CONCLUSIONS: The findings of this study provide evidence that SOD2 rs4880 SNP may contribute to inadequate defence by the antioxidant enzyme, SOD2, against DM-induced oxidative stress and thus cause DN in Saudi patients with T2D. Therefore, SOD2 rs4880 may serve as a predictive marker to prevent the development and progression of DN in patients with T2D.

Rheumatoid Arthritis Saudi Database (RASD): Disease Characteristics and Remission Rates in a Tertiary Care Center.

BACKGROUND: National Registries are essential to direct current practice. Rheumatoid arthritis (RA) registries in the middle east and North Africa remain scarcely represented. OBJECTIVE: To describe a population of Saudi RA patients and to compare the findings to internationally reported data. METHODS: This is an observational study that was conducted at Doctor Soliman Fakeeh Hospital (DSFH) in Saudi Arabia. The study ran from 2014 to 2018 using a pool of 433 patients. Inclusion criteria included adults older than 18 years of age who fulfilled the 2010 American College of Rheumatology criteria for the diagnosis of RA and who were also regular visitors in our rheumatology clinics. Data were collected directly from patients and entered in a specially designed program. RESULTS: At initial presentation, 45.5% had demonstrated active disease (moderate or high disease activity) based on DAS-28-CRP scores, while 54.5% were in low disease activity or remission. The remission rates after 1 year had increased to 79.6% (345 patients), while 9.7% (42 patients) and 10.6% (46 patients) had low disease activity and moderate disease activity, respectively. It was also found that the female gender, higher Health Assessment Questionnaire-Disability Index (HAQ-DI) and longer lag1/lag2 periods were associated with higher disease activity in our population. CONCLUSION: We detected higher remission rates at 1 year of follow-up. This could be attributed to many factors, including good referral systems with easier access to biologics. We aim to expand this registry to the national level.

The Association Between Vitamin D Level and Restless Legs Syndrome: A Population-Based Case-Control Study.

STUDY OBJECTIVES: The pathophysiology of restless legs syndrome (RLS) may be related to abnormalities in central dopamine pathways. Vitamin D may play a role in the pathophysiology of RLS by modulating the dopaminergic system. The aim of our study is to examine the possible link between RLS and vitamin D deficiency. METHODS: The total number of subjects enrolled was 201, including 78 patients with RLS based on the International RLS Study Group (IRLSSG) diagnostic criteria and 123 controls. Serum 25-hydroxy vitamin D levels were measured in both groups. RLS severity was assessed in all cases using the IRLSSG symptom severity rating scale. RESULTS: Fifty-nine patients with RLS (75.6%) and 52 controls (42.3%) had a diagnosis of vitamin D deficiency, P < .001. The odds ratio (OR) of the development of RLS was 4.24 for those with a vitamin D level < 50 nmol/L compared to those with a vitamin D level ≥ 50 nmol/L (P < .001, 95% confidence interval [CI] 2.3-7.9). After adjusting for all other significant factors in the multivariate logistic model, vitamin D was significantly associated with RLS (OR 3.1, P < .002, 95% CI 1.51-6.38). Moreover, a dark or black skin color (OR 3.4, P < .001, 95% CI 1.5-6.3) and working as a teacher (OR 8.8, P < .001, 95% CI 3.4-23.5) were also independently significantly associated with RLS. CONCLUSIONS: Our study identified an association between vitamin D deficiency and RLS. Consequently, vitamin D deficiency should be considered in the management of RLS. However, further studies are needed to evaluate the causality relationship between vitamin D level and RLS.