APOLIPOPROTEIN A1 GENE POLYMORPHISM (G-75A AND C+83T) IN MYOCARDIAL INFARCTION—A PILOT STUDY IN THE NORTH INDIAN POPULATION

Abstract Background Healthy aging perceives human longevity probably due to carrying the defensive genes. Forkhead box O (FOXO) transcription factors provide the most convincing example of a conserved genetic pathway at the point between aging and cancer. This pilot study was performed to examine the single nucleotide variants rs2253310 and rs4946936 of the Forkhead box O 3 (FOXO3 gene) in octogenarians and gastrointestinal tract (GIT) cancer patients in the north Indian population. Main body In silico mutational analysis of the FOXO3 gene in 25 participants. Two single nucleotide variants (SNVs) g.7556C>G (rs2253310) heterozygous and g.122284T>C (rs4946936) homozygous observed and reported previously. However, there is a common association of these SNVs in different ethnic groups. No significant differences in the genotype and allele frequencies for the study groups observed. Short conclusion This study observes two single nucleotide variants, g.7556C>G (rs2253310) and g.122284T>C (rs4946936), of the FOXO3 gene in the study groups which influence human longevity. Longevity-associated FOXO3 variants may be associated with GIT cancer in the north Indian population. As a result, looking for genes linked to longevity will lead to discovering new cancer targets. Further studies with a large population are necessary to elucidate the role of the FOXO3 gene in octogenarians.

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Molecular evaluation of exon 8 cystathionine rs5742905T T>C gene polymorphism and determination of its frequency, distribution pattern, and association with susceptibility to Coronary Artery Disease. In North Indian Population

Cardiovascular & Haematological Disorders - Drug Targets ◽

10.2174/1871529x21666210315121027 ◽

2021 ◽

Vol 21 ◽

Author(s):

Mamta P Sumi ◽

Sameer Ahmad Guru ◽

Rashid Mir ◽

Musadiq A Bhat ◽

Samantak Sahu ◽

...

Keyword(s):

Coronary Artery Disease ◽

Coronary Artery ◽

Gene Polymorphism ◽

Indian Population ◽

North Indian Population ◽

Differential Distribution ◽

The North ◽

Major Coronary Artery ◽

Allele Specific ◽

Artery Disease

Background: The protein coded by cystathionine β synthase (CBS) gene act as a catalyzer, converts homocysteine to cystathionine. Impairment of CBS gene leads to homocystinuria by cystathionine β synthase deficiency which is linked to Coronary Artery Disease. A number of polymorphisms study have been performed in cystathione β synthase gene. In the current study we planned to analyze the influence of CBS T833C gene polymorphism and its association with Coronary Artery Disease development and its progression in the north Indian population. Materials and method: The present study comprises 100 angiographically confirmed CAD patients and 100 age and sex-matched healthy controls. A ≥ 50% luminal stenosis at one major coronary artery was considered for the inclusion criteria of the cases. The investigation of T833C polymorphism in the CBS gene was performed by PCR- RFLP technique. Result: In result, we found that homozygous mutant (CC ) and heterozygous (TC) genotypes of CBS T833C gene polymorphism, were significantly higher in CAD patients as compared to healthy subjects. We also observed a substantial increased CAD risk exists in dominant, codominant inheritance and allele specific models for the CBS T833C gene polymorphism. We, analyzed the differential distribution with respect to disease severity, but there was no significant association (p=0.96). Conclusion: In conclusion, this study demonstrates that CBS T833C gene polymorphism plays a key role in developing coronary artery disease and its progression.

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Association between PON1 rs662 gene polymorphism and serum paraoxonase1 level in coronary artery disease patients in Northern India

Egyptian Journal of Medical Human Genetics ◽

10.1186/s43042-021-00196-3 ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

Rohit Kumar ◽

Vandana Saini ◽

Charanjeet Kaur ◽

H. S. Isser ◽

Nitin Tyagi ◽

...

Keyword(s):

Coronary Artery Disease ◽

Coronary Artery ◽

Gene Polymorphism ◽

Indian Population ◽

Density Lipoprotein ◽

North Indian Population ◽

Northern India ◽

The North ◽

Increased Risk ◽

Artery Disease

Abstract Background Coronary artery disease (CAD) is a leading cause of morbidity and mortality, with a shifting trend towards the younger population. Paraoxonase1 (PON1) is a glycoprotein enzyme associated with high-density lipoprotein (HDL) particles in the blood. It has the ability to protect against lipid oxidation, thereby reducing the risk of atherogenesis. PON1 rs662 gene polymorphism may affect serum PON1 levels as well as its activity and may have a significant role in the pathogenesis of CAD. The present study was conducted to identify the association of PON1 rs662 gene polymorphism with serum PON1 levels in CAD patients in the North Indian population. This case–control study included 71 angiography-proven CAD patients (with > 50% luminal stenosis in one or more coronary arteries) and 71 controls (with < 50% luminal obstruction in angiography). PON1 rs662 gene polymorphism was studied using PCR and RFLP under the standardized protocol. Serum PON1 levels were estimated by ELISA. Results The serum PON1 level was significantly lower in the CAD group than in the controls (7.79 ± 3.16 vs. 10.79 ± 3.19 ng/mL; p < 0.0001). Logistic regression analysis showed that homozygous GG genotype of PON1 rs662 SNP has ninefold increased risk of developing CAD in an Indian population (OR = 9.0, 95%CI 2.79–29.06, p = 0.0002). A significantly higher frequency of G allele was also observed in CAD patients than in controls (OR 2.64, 95%CI 1.61–4.33, p = 0.001). Conclusions The reduced serum PON1 level is associated with CAD. PON1 rs662 gene polymorphism is significantly associated with CAD susceptibility in the North Indian population.

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