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Updated: Feb 16, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
Single nucleotide polymorphisms of microRNA in cardiovascular diseases
Kamna Srivastava1, Kirti Tyagi1
1Dr. B. R. Ambedkar Centre for Biomedical Research, University of Delhi, Delhi 110007, India.
Insights
Genetic variations in microRNA (miRNA) polymorphisms like miR-146a, miR-196, and miR-499 show inconsistent links to cardiovascular diseases (CVD). More research across diverse populations is needed to clarify their global role.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Molecular Biology
Background:
- Cardiovascular diseases (CVD) are a leading global cause of death.
- Genetic factors, including microRNA (miRNA) polymorphisms, influence CVD risk and progression.
- Specific miRNA polymorphisms (miR-146a, miR-196, miR-499) are investigated for their role in CVD pathogenesis.
Purpose of the Study:
- To review and analyze current research on miRNA polymorphisms (miR-146a, miR-196, miR-499) and their association with cardiovascular diseases.
- To compare allelic frequencies and genotyping patterns across existing studies.
- To identify research gaps and suggest future directions for understanding the genetic basis of CVD.
Main Methods:
- Literature review and meta-analysis of studies investigating specific miRNA polymorphisms (rs2910164, rs11614913, rs3746444) in relation to CVD.
- Comparison of allelic frequencies and genotyping data from published research.
- Identification of population-specific data and research gaps.
Main Results:
- Studies on miR-146a (rs2910164), miR-196 (rs11614913), and miR-499 (rs3746444) polymorphisms show conflicting results, even within similar populations.
- A significant data gap exists for Caucasian and South Asian populations, with most research focused on Chinese cohorts.
- The global impact of these miRNA polymorphisms on CVD progression remains unclear due to inconsistent findings and limited population representation.
Conclusions:
- Current evidence on the association between specific miRNA polymorphisms and CVD is inconclusive and contradictory.
- Further research is essential, particularly in underrepresented populations (Caucasian, Indian), to establish a global genetic correlation.
- Larger sample sizes and geographically diverse studies are crucial for robustly determining the role of miRNA polymorphisms in CVD pathogenesis.
Abstract:
Despite the advances in medicine and in science of diagnosis, cardiovascular diseases (CVD) remain the number one cause of morbidity and mortality worldwide. Apart from the modifiable risk factors, genetic factors are believed to also influence the outcome of this umbrella of diseases. Under the genetic factors, miRNA polymorphisms, namely miR-146a (rs2910164), miR-196 (rs11614913) and miR-499 (rs3746444), have become an important tool to study the mechanism that underlie the pathogenesis of this disease. In this review, we analyze the advances made through various research studies and the evidence provided by them in the area of miRNA polymorphisms by comparing the allelic frequencies and genotyping patterns. Interestingly, these studies have contradicting results even those conducted in same set of population. We also highlight the gap in literature search as majority of these studies have been conducted in Chinese population and data gaps are evident in Caucasian population, along with developing countries like, India, where no such data is available. This makes the daunting task of presenting a global picture and of the extent these polymorphisms play a role in CVD progression, even more difficult. Therefore, we suggest that more work needs to be done by taking various geographical domains in to consideration. Also, larger sample size calculated through statistical tools is the key to progress in establishing the genetic co-relation of miRNA polymorphisms and CVDs.
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