Association of NOS3 (rs 2070744) and SOD2Val16Ala (rs4880) gene polymorphisms with increased risk of ESRD among Egyptian patients

Elsaid, A.; eid, Omnia Samir; Said, Samy B.; Zahran, Rasha

doi:10.1186/s43141-021-00260-w

Cited by 4 publications

(1 citation statement)

References 32 publications

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“…In agreement with these observations, our Angolan SCA patients have an even lower frequency of the rs2070744_C allele (9.8%). Therefore, we can hypothesize that the rs2070744_C allele have achieved a lower frequency on the African continent due to a negative selective pressure performed together by SCA and other frequent severe pathologies in Africa, in which this SNP is also a risk factor, such as Essential Hypertension [34], Chronic Kidney Failure and End-Stage Renal Disease [35].…”

Section: Association Of Genetic Variants With Hematological Biochemic...mentioning

confidence: 99%

Genetic modulation of anemia severity, hemolysis level, and hospitalization rate in Angolan children with Sickle Cell Anemia

et al. 2022

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substitution originates a hemoglobin variant named S (HbS) that, upon deoxygenation, forms polymers inside the red blood cells (RBCs), sickling them and leading to premature extravascular and intravascular hemolysis. Clinically, SCA is a complex multisystem disease with high heterogeneity of symptoms, such as recurrent episodes of vaso-occlusion and consequent end-organ ischemia-reperfusion injury and

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Section: Association Of Genetic Variants With Hematological Biochemic...mentioning

confidence: 99%

Genetic modulation of anemia severity, hemolysis level, and hospitalization rate in Angolan children with Sickle Cell Anemia

et al. 2022

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Genetic variants affecting mitochondrial function provide further insights for kidney disease

Cañadas-Garre,

Baños-Jaime,

Maqueda

et al. 2024

BMC Genomics

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Background Chronic kidney disease (CKD) is a complex disorder that has become a high prevalence global health problem, with diabetes being its predominant pathophysiologic driver. Autosomal genetic variation only explains some of the predisposition to kidney disease. Variations in the mitochondrial genome (mtDNA) and nuclear-encoded mitochondrial genes (NEMG) are implicated in susceptibility to kidney disease and CKD progression, but they have not been thoroughly explored. Our aim was to investigate the association of variation in both mtDNA and NEMG with CKD (and related traits), with a particular focus on diabetes. Methods We used the UK Biobank (UKB) and UK-ROI, an independent collection of individuals with type 1 diabetes mellitus (T1DM) patients. Results Fourteen mitochondrial variants were associated with estimated glomerular filtration rate (eGFR) in UKB. Mitochondrial variants and haplogroups U, H and J were associated with eGFR and serum variables. Mitochondrial haplogroup H was associated with all the serum variables regardless of the presence of diabetes. Mitochondrial haplogroup X was associated with end-stage kidney disease (ESKD) in UKB. We confirmed the influence of several known NEMG on kidney disease and function and found novel associations for SLC39A13, CFL1, ACP2 or ATP5G1 with serum variables and kidney damage, and for SLC4A1, NUP210 and MYH14 with ESKD. The G allele of TBC1D32-rs113987180 was associated with higher risk of ESKD in patients with diabetes (OR:9.879; CI95%:4.440–21.980; P = 2.0E-08). In UK-ROI, AGXT2-rs71615838 and SURF1-rs183853102 were associated with diabetic nephropathies, and TFB1M-rs869120 with eGFR. Conclusions We identified novel variants both in mtDNA and NEMG which may explain some of the missing heritability for CKD and kidney phenotypes. We confirmed the role of MT-ND5 and mitochondrial haplogroup H on renal disease (serum variables), and identified the MT-ND5-rs41535848G variant, along with mitochondrial haplogroup X, associated with higher risk of ESKD. Despite most of the associations were independent of diabetes, we also showed potential roles for NEMG in T1DM.

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Association of MnSOD (rs4880) and GPx1 (rs1050450) with diabetic nephropathy: a meta-analysis

Begum,

Lakshmanan

2024

Egypt J Med Hum Genet

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Background Microvascular complications of diabetes including retinopathy, nephropathy, and neuropathy are those long-term complications that affect small blood vessels. Diabetic nephropathy (DN) is characterized by persistent microalbuminuria. A meta-analysis of case–control studies aims to examine the relationship between MnSOD (rs4880) and GPx1 (rs1050450) and the risk of DN. Methods Various databases such as Web of Science, PubMed, Springer Link, Cochrane Library, Science Direct, Embase, and Google Scholar were utilized to extract relevant studies. The statistical software MedCalc version 22.009 was acquired to accomplish the meta-analysis of the included studies. Results A significant association was found between two SNPs (rs4880 and rs1050450) and DN in the homozygous recessive model [95% confidence interval (CI) 0.97–2.41, odds ratio (OR) TT vs CC = 1.53, P = 0.06] and heterozygous model [95% CI 0.92–1.97, OR CT vs CC = 1.35, P = 0.12], while there was no association with the other genetic models. A significant association between rs4880 and DN was perceived in the Asian population [95% CI 1.24–2.03, OR = 1.6, P < 0.001], meanwhile the studies among Caucasian group showed insignificant association [95% CI 0.87–1.32, OR = 1.07, P = 0.5]. On the other hand, the association between rs1050450 and DN was significant [95% CI 3.80–13.01, OR = 7.04, P < 0.001] and insignificant [95% CI 0.96–2.28, OR = 1.48, P = 0.07] among Asian and Caucasian population, respectively. Conclusion To date, this meta-analysis could be the first to contribute a panoramic exploration of the MnSOD and GPx1 polymorphic association with DN. The results of the study contemplate the data presently accessible from the literature and can be employed as an influential lead for future research.

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Association of NOS3 (rs 2070744) and SOD2Val16Ala (rs4880) gene polymorphisms with increased risk of ESRD among Egyptian patients

Cited by 4 publications

References 32 publications

Genetic modulation of anemia severity, hemolysis level, and hospitalization rate in Angolan children with Sickle Cell Anemia

Genetic modulation of anemia severity, hemolysis level, and hospitalization rate in Angolan children with Sickle Cell Anemia

Genetic variants affecting mitochondrial function provide further insights for kidney disease

Association of MnSOD (rs4880) and GPx1 (rs1050450) with diabetic nephropathy: a meta-analysis

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