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Chukkayapalli, Sowmya Gayatri
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Biochemistry, Genetics & Molecular Biology Dentistry Immunology & microbiology Medicine & Pharmacology Neuroscience

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Association between Maternal FUT2 204A>G (rs492602) Genetic Polymorphism and Congenital Heart Disease in the Indian Population: A Study in Maternal-fetal Dyads Tella, Sunitha; Chukkayapalli, Sowmya Gayatri; Akka, Jyothy; Uppala, Satyanarayana
Molecular and Cellular Biomedical Sciences Vol 7, No 2 (2023)
Publisher : Cell and BioPharmaceutical Institute

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.21705/mcbs.v7i2.305

Abstract

Background: FUT2 secretor genetic variants are strongly associated with absorption and circulatory levels of vitamin B12, thereby affecting folate metabolism pathway. The aim of this study was to evaluate the association between maternal FUT2 204A>G (rs492602) genetic polymorphism and CHD in the Indian population.Materials and method: One hundred and ten pregnant women who were vitamin B12 deficient with fetuses diagnosed with CHD were included in the case group and an equal number of healthy pregnant women with normal fetuses were selected as the control group. DNA was extracted from blood and umbilical cord tissue samples, and genotyped for FUT2 rs492602 polymorphism using allele-specific polymerase chain reaction. Hardy–Weinberg equilibrium test was used to calculate allele and genotype frequencies.Results: Significant increase in the frequency of AG (odds ratio=2.25; 95% CI: 1.25–4.05; p=0.009) and GG (odds ratio=3.51; 95% CI: 1.47-8.43; p=0.006) genotypes as well as G allele of FUT2 rs492602 were observed in the maternal case group. Furthermore, in the fetus case group, there was a significantly higher incidence of GG genotype (odds ratio=2.87; 95% CI: 1.26–6.57; p=0.018) and G allele (odds ratio=1.70; 95% CI: 1.15–2.53; p=0.009).Conclusion: FUT2 rs492602 are associated with CHD in the Indian population. Maternal genetic polymorphism that regulates vitamin B12 metabolic pathway might influence fetal cardiac development, thus serving as a predictor for CHD.Keywords: congenital heart disease, FUT2, single nucleotide polymorphism (SNP), vitamin B12
Genotype AA of ACE2 G8790A (rs2285666) Has Protective Potential Against COVID-19 Disease Severity Chukkayapalli, Sowmya Gayatri; Suravaram, Swati; Reddy, Bharat Kumar; Siddiqui, Imran Ahmed
Molecular and Cellular Biomedical Sciences Vol 7, No 3 (2023)
Publisher : Cell and BioPharmaceutical Institute

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.21705/mcbs.v7i3.361

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Background: SARS-CoV-2 virus uses angiotensin converting enzyme 2 (ACE2), a key enzyme of the renin angiotensin system (RAS) as the functional receptor for cell fusion and induction of infections in the respiratory system. Functional ACE2 gene polymorphisms may lead to RAS imbalance and are associated with COVID-19 susceptibility and severity. ACE2 G8790A (rs2285666), a splice region variant, is well characterized in various populations across the world. In the present study, the role of ACE2 G8790A (rs2285666) variant as risk predictor for severity of COVID-19 infection was investigated.Materials and methods: One-hundred COVID-19 subjects were included in the study and divided into: subjects with a history of severe infection and ICU-admitted (Group 1) and subjects with mild to moderate COVID-19 infection (Group 2). Genotype analysis for rs2285666 of ACE2 was performed using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) method.Results: The distribution of ACE2 G8790A (rs2285666) genotypes were GG 62%, GA 18%, and AA 20% in Group 1 and GG 34%, GA 14%, and AA 52% in Group 2, respectively. The A allele of rs2285666 (p≤0.001; OR=3.4; 95% CI=1.89–6.107) were less frequent in Group 1 as compared to Group 2. Also, a statistically significant difference was found between severity of COVID-19 infection with age and comorbidities such as diabetes, hypertension, chronic kidney disease, but not gender.Conclusion: Our findings suggest the possibility of a protective mechanism of the AA genotype of ACE2 G8790A (rs2285666) variant against COVID-19 disease severity.Keywords: COVID-19, ACE2 gene, renin-angiotensin system, genetic association, rs2285666, sanger sequencing
Co-Authors Akka, Jyothy Reddy, Bharat Kumar Siddiqui, Imran Ahmed Suravaram, Swati Tella, Sunitha Uppala, Satyanarayana