A study on Catalase Gene Promoter Polymorphism-21 A/T (rs7943316) in Healthy Pakistani population

Nawab, Syeda Nuzhat; Zehra, Sitwat; Fawwad, Asher; Azhar, Abid

doi:10.12669/pjms.336.13188

Cited by 7 publications

(10 citation statements)

References 10 publications

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“…This substitution induces a 30–40% reduction in SOD2 antioxidant activity by the reduction of its transportation into the matrix of mitochondria . In addition, the rs7943316 polymorphism, in the promoter region of CAT gene (11p13 region), may lead to altered promoter activity, gene expression, and diminished catalytic activity of the CAT enzyme by altering the binding affinity of transcription factors …”

Section: Discussionmentioning

confidence: 91%

“…12 In addition, the rs7943316 polymorphism, in the promoter region of CAT gene (11p13 region), may lead to altered promoter activity, gene expression, and diminished catalytic activity of the CAT enzyme by altering the binding affinity of transcription factors. 18 Krhin et al investigated whether common functional polymorphisms in antioxidant genes including SOD2, CAT, and GPX were associated with the development or clinical course of Hurthle cell thyroid carcinoma. Although they observed no significant difference between genotype frequencies of GPX1-rs1050450, SOD2-rs4880, and CAT-rs1001179 polymorphisms among patients with Hurthle cell thyroid adenoma, Hurthle cell thyroid carcinoma, and Hurthle cell thyroid nodule, they found the association of GPX1-rs1050450 (Pro198Leu) polymorphism with the lower occurrence of recurrent disease.…”

Section: Discussionmentioning

confidence: 99%

“…In the Pro192Leu polymorphism (rs1050450) of GPx‐1 gene, the effectiveness of Leu allele was lower than that of the Pro allele in the removal of peroxide radicals . Indeed, rs7943316 polymorphism in the promoter region of CAT gene is associated with several complications . Therefore, this study was aimed to investigate the possible effects of SOD2 rs4880, GPx ‐1 rs1050450, and CAT on PTC susceptibility in Iranian women.…”

Section: Introductionmentioning

confidence: 99%

“…17 Indeed, rs7943316 polymorphism in the promoter region of CAT gene is associated with several complications. 18 Therefore, this study was aimed to investigate the possible effects of SOD2 rs4880, GPx-1 rs1050450, and CAT on PTC susceptibility in Iranian women.…”

Section: Introductionmentioning

confidence: 99%

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The effects of the genetic polymorphisms of antioxidant enzymes on susceptibility to papillary thyroid carcinoma

et al. 2020

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Several lines of evidences have indicated that inflammation play an important role in the carcinogenesis. During the inflammatory processes, free radical species are produced from oxidative stress. In normal conditions, enzymatic and nonenzymatic antioxidants remove these products. Manganese superoxide dismutase (MnSOD), glutathione peroxidase‐1 (GPx‐1), and catalase (CAT) are three important enzymes. Therefore, this study aimed to evaluate the effects of MnSOD (SOD2), GPX‐1, and CAT genetic polymorphisms on papillary thyroid carcinoma (PTC) susceptibility. A total of 134 patients with PTC and 151 healthy controls were recruited to participate in this study. All samples were genotyped for SOD2 rs4880, GPX1 1050450, and CAT rs7943316 polymorphisms by polymerase chain reaction‐restriction fragment length polymorphism method. The frequencies of the rs1050450, rs4880, and rs7943316 alleles and genotypes were not different between PTC patients and controls. However, the TC genotype of SOD2 rs4880 polymorphism was significantly higher in males compared to that in females in PTC patients (odds ratio [OR], 3.9 [95% CI, 1.5–11], p = .007). The rs4880 polymorphism was also associated with higher stages (III‐IV) of PTC in dominant model. No significant correlation was found between GPX1‐rs1050450 and CAT‐rs7943316 polymorphisms and demographic, clinical, and pathological features of the disease. The SOD2 rs4880CT genotype was more frequent in males with PTC and patients with higher stages (III–IV) of disease (OR, 2.9 [95% CI, 1.1–7.7], p = .04). However, no significant association was found between GPX1‐rs1050450 and CAT‐rs7943316 variants and PTC or its demographic, clinical, and pathological features.

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Section: Discussionmentioning

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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The effects of the genetic polymorphisms of antioxidant enzymes on susceptibility to papillary thyroid carcinoma

et al. 2020

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“…Oxidative stress can trigger cancer development in the cells. 8,9 The study by other researcher showed changes of expression of CAT "1518/"1226 in cancer cells. These gene changes support cell enhancement by inducing genetic instability and activating oncogenes.…”

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confidence: 98%

CAT-21 A/T Gene Polymorphisms Associated with Breast Cancer Susceptibility

2021

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Background: Oxidative stress induced cancer cell formation. Gene polymorphism plays roles in carcinogen metabolism, antioxidant and DNA repairing pathway was susceptibility to oxidative stress. This study aim to determine the association between CAT-21 A/T polymorphism with breast cancer susceptibility. Methods: Case control study was conducted on 65 breast cancer patient and 65 healthy control group. The whole blood samples were isolated from 65 breast cancer patients in Haji Adam Malik General Hospital Medan and 65 healthy control group. The CAT-21A/T polymorphism was analyzed by PCR-RFLP procedure. PCR-RFLP product was electrophoresed and visualized in agarose 4%. Results:The AA CAT-21 genotype were lower in breast cancer (BC) than healthy control (HC) group (31/47.7% vs 40/61.5%), in the contrary AT+TT genotype was greater in BC than HC group (34/52.3% vs 25/38.5%) with (p=0.159, OR=1.755, CI=0.874–3.525). A allele CAT-21 were found lower in BC than HC group (89/68.5% vs 105/80.8%) then T allele were greater in BC than HC group (41/31.5% vs 25/19.2%) with (p=0.033, OR=1.935;CI=1.022-3.428). Conclusions: There was significant difference in allele distribution of CAT-21 A/T between case and control group but no in genotype distribution. In this population study showed that allele of CAT -21 A/T polymorphism could represent as a risk factor to breast cancer. Bangladesh J Medicine July 2021; 32(2) : 79-84

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Antioxidant enzymes and association of CAT SNP‐21 A/T (rs7943316) with male infertility

Sadia

Sultan

Khan

et al. 2021

Molecular Reproduction Devel

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Infertility is a multifactorial and polygenic disease. A vast majority of infertility is still unexplained despite modern diagnostic techniques. Oxidative stress is considered a factor for male infertility but etiology in terms of functional gene polymorphism and experimental studies on human subjects is scarcely reported. The aim of the study was to investigate the status of three antioxidant enzymes; catalase, superoxide dismutase (SOD), and glutathione reduced (GSH) in clinically diagnosed infertile males and find the potential association of CAT gene variant in the promoter region −21 A/T (rs7943316). The study consisted of 55 clinically diagnosed infertile males and 50 non‐infertile volunteers. The activity of antioxidant enzymes was measured through a spectrophotometer. Polymerase chain reaction–restriction fragment length polymorphism was performed for genotyping of single‐nucleotide polymorphism. Catalase enzyme activity was significantly decreased while SOD and GSH were substantially increased (p ≤ 0.01) in infertile men in comparison to non‐infertile. CAT gene variant rs7943316 had shown significant association in dominant, recessive model and allelic frequencies. The study concludes that rs7943316 has a substantial role in male infertility. The outcome of the study may help in resolving idiopathic infertility cases and may help in evolving novel diagnostic and therapeutic approaches. Other variants of CAT and antioxidant genes are suggested to ascertain further insight.

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A study on Catalase Gene Promoter Polymorphism-21 A/T (rs7943316) in Healthy Pakistani population

Cited by 7 publications

References 10 publications

The effects of the genetic polymorphisms of antioxidant enzymes on susceptibility to papillary thyroid carcinoma

The effects of the genetic polymorphisms of antioxidant enzymes on susceptibility to papillary thyroid carcinoma

CAT-21 A/T Gene Polymorphisms Associated with Breast Cancer Susceptibility

Antioxidant enzymes and association of CAT SNP‐21 A/T (rs7943316) with male infertility

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