A Study of Associations Between rs9349379 (PHACTR1), rs2891168 (CDKN2B-AS), rs11838776 (COL4A2) and rs4880 (SOD2) Polymorphic Variants and Coronary Artery Disease in Iranian Population

Yari, Abolfazl; Saleh‐Gohari, Nasrollah; Mirzaee, Moghaddameh; Hashemi, Fatemeh; Saeidi, Kolsoum

doi:10.1007/s10528-021-10089-0

Cited by 13 publications

(5 citation statements)

References 54 publications

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“…Some of the variants identified in this gene are associated with decreased enzymatic activity, as the rs4880 C > T ( p . Ala16Val, A16V, V16A, 47 C > T ) and rs5746136 C > T or G > A (c.*441 G > A , −102C > T ) are associated with the development of premature aging [ 10 ], cardiovascular diseases [ 11 ], diabetes mellitus type 2 (DM2) [ 12 ], and cancer [ 9 , 13 ], among others. The rs4880 non-synonymous variant is the product of the change of C for T in codon 16 of exon 2 of the SOD2 gene.…”

Section: Introductionmentioning

confidence: 99%

SOD2 Gene Variants (rs4880 and rs5746136) and Their Association with Breast Cancer Risk

Gallegos‐Arreola

Ramírez-Patiño

Sánchez-López

et al. 2022

CIMB

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The superoxide dismutase (SOD) is the principal antioxidant defense system in the body that is activated by a reactive oxygen species. Some variants of the SOD2 gene have been associated with cancer. The rs4880 variant was determined by PCR real-time and the rs5746136 variant by PCR-RFLP in healthy subjects and in breast cancer (BC) patients. The rs4880 and rs5746136 variants were associated with BC susceptibility when BC patients and the control group were compared for the CT, TT, CTCC, and the T alleles (p < 0.05). The CT genotype of the rs4880 variant showed significant statistical differences in patients and controls aged ≤ 45 years old, and with hormonal consumption (p < 0.05). The rs4880 variant was associated with BC patients with CTTT genotype and obesity, the presence of DM2-SAH, and a non-chemotherapy response (p < 0.05). Additionally, the rs5746136 variant was associated with susceptibility to BC with Ki-67 (≥20%), luminal A type BC, and a chemotherapy partial response (p < 0.05) in BC patients who carry TT, TC, and CTTT genotypes, respectively. The haplotype T/T (OR 1.98; 95% CI 1.20–3.26, p = 0.005) was observed to be a risk factor for BC. The rs4880 and rs5746136 variants in the SOD2 gene were associated with BC susceptibility.

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Section: Introductionmentioning

confidence: 99%

SOD2 Gene Variants (rs4880 and rs5746136) and Their Association with Breast Cancer Risk

Gallegos‐Arreola

Ramírez-Patiño

Sánchez-López

et al. 2022

CIMB

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“…Thus, it has been shown that workers handling organochlorine pesticides have a reduced function of the enzyme superoxide dismutase [ 53 ]. Variations in the SOD2 and SOD3 genes can participate in susceptibility to breast cancer, chronic obstructive pulmonary disease in adults and children, preeclampsia, insulin resistance, type 2 diabetes, and arterial hypertension [ 54 , 56 , 57 ].…”

Section: Discussionmentioning

confidence: 99%

Case-Control Study of the Association between Single Nucleotide Polymorphisms of Genes Involved in Xenobiotic Detoxification and Antioxidant Protection with the Long-Term Influence of Organochlorine Pesticides on the Population of the Almaty Region

Altynova,

Khamdiyeva,

Garshin

et al. 2023

Toxics

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The association of genetic polymorphisms with the individual sensitivity of humans to the action of pesticide pollution is being actively studied in the world. The aim of this study was a molecular epidemiological analysis of candidate polymorphisms of genes involved in pesticide metabolism, detoxification, and antioxidant protection. Some of the selected polymorphisms also relate to susceptibility to cancer and cardiovascular, respiratory, and immune system diseases in individuals exposed to pesticides for a long time. For a case-control study of a unique cohort of people exposed to organochlorine pesticides for 10 years or more were chosen, a control cohort was selected that matched with the experimental group by the main population characteristics. PCR-PRLF and genome-wide microarray genotyping (GWAS) methods were used. We identified 17 polymorphisms of xenobiotic detoxification genes and 27 polymorphisms of antioxidant defense genes, which had a significantly high statistical association with the negative impact of chronic pesticide intoxication on human health. We also found 17 polymorphisms of xenobiotic detoxification genes and 12 polymorphisms of antioxidant defense genes that have a protective effect. Data obtained added to the list of potential polymorphisms that define a group at high risk or resistant to the negative effects of pesticides.

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“…The study included 400 Iranian participants, 200 of whom were cases and 200 age‐ and gender‐matched controls, who had undergone angiography for suspected CAD. As described in our previous study [ 35 ], patients with CAD were defined as those with significant luminal narrowing (50% or greater) in at least one primary coronary artery, or those with a history of previous angioplasty based on the ACC/AHA criteria [ 36 ]. Participants without plaque and/or a history of coronary angiography/angioplasty were classified as controls.…”

Section: Methodsmentioning

confidence: 99%

Association of the ESR1 (rs9340799), OLR1 (rs3736234), LIPC (rs2070895), VDR (rs2228570), and CETP (rs708272) Polymorphisms With Risk of Coronary Artery Disease in Iranian Patients

Karam,

Yari,

Najmadini

et al. 2024

Clinical Laboratory Analysis

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BackgroundCoronary artery disease (CAD) is a devastating illness and a leading cause of death worldwide, primarily caused by atherosclerosis resulting from a genetic‐environmental interaction. This study aimed to investigate the relationship between the ESR1 (rs9340799), OLR1 (rs3736234), LIPC (rs2070895), VDR (rs2228570), and CETP (rs708272) polymorphisms, lipid profile parameters, and CAD risk in a southeast Iranian population.MethodsA total of 400 subjects (200 CAD patients with hyperlipidemia and 200 healthy controls) were enrolled in this case–control study. Five selected polymorphisms were genotyped using the polymerase chain reaction–restriction fragment length polymorphism (PCR‐RFLP) technique.ResultsFor all single nucleotide polymorphisms (SNPs), the population under study was in the Hardy–Weinberg equilibrium. The T‐risk allele frequency of rs2228570 was associated with an increased risk of CAD. The TT and CT genotypes of rs2228570 had also been associated with the risk of CAD. Additionally, the TT genotype was associated with higher serum low‐density lipoprotein cholesterol (LDL‐c) and high‐density lipoprotein cholesterol (HDL‐c) levels. The GG genotype of the rs3736234 was associated with higher body mass index (BMI) and triglyceride (TG) levels, and the AA genotype of the rs708272 was associated with higher HDL‐c levels. Based on these findings, we propose that the VDR (rs2228570) polymorphism was associated with serum HDL‐c and LDL‐c levels and may serve as potential risk factors for CAD within the Iranian population. Moreover, rs3736234 and rs708272 influence the concentrations of TG and HDL‐c, respectively.ConclusionThese findings provided insights into the complex interplay between genetic variations, cardiovascular risk, and lipid metabolism.

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A Study of Associations Between rs9349379 (PHACTR1), rs2891168 (CDKN2B-AS), rs11838776 (COL4A2) and rs4880 (SOD2) Polymorphic Variants and Coronary Artery Disease in Iranian Population

Cited by 13 publications

References 54 publications

SOD2 Gene Variants (rs4880 and rs5746136) and Their Association with Breast Cancer Risk

SOD2 Gene Variants (rs4880 and rs5746136) and Their Association with Breast Cancer Risk

Case-Control Study of the Association between Single Nucleotide Polymorphisms of Genes Involved in Xenobiotic Detoxification and Antioxidant Protection with the Long-Term Influence of Organochlorine Pesticides on the Population of the Almaty Region

Association of the ESR1 (rs9340799), OLR1 (rs3736234), LIPC (rs2070895), VDR (rs2228570), and CETP (rs708272) Polymorphisms With Risk of Coronary Artery Disease in Iranian Patients

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