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Purpose <p>Haptoglobin acts as an antioxidant but it plays a key role in infectious as well as non-infectious diseases. It has two co-dominant alleles, Hp1 and Hp2, which give rise to three genotypes Hp1-1, Hp2-1, and Hp2-2. The allelic and genotypic variations of haptoglobin have been observed in different populations and ethnic groups in various parts of the world. The importance of Hp types in illness will only become clear with further knowledge of the functional variations between the main Hp types and large-scale subject investigations. This review insights the molecular mechanism of haptoglobin and the allelic frequencies in India as well as in other countries. The analysis further investigated the relationship of haptoglobin with apolipoproteins, lipid profile, and anthropometric variables.</p> Methods <p>We&#xa0;search a literature by using specific keywords on PubMed, Scopus, and Web of Science to obtain relevant publications on haptoglobin; the relation of haptoglobin with cardiovascular disease, diabetes, anthropometric parameters, lipid profile, single nucleotide polymorphisms (SNPs), and biochemical parameters; and the prevalence of haptoglobin gene polymorphism in India and other countries.</p> Results <p>This review insights the different techniques used to determine the haptoglobin phenotype and different types of haptoglobin mutation that play a role in diseases. Some SNPs of Hp were associated with low levels of Hp, lipid profile, and heart diseases. Hp2-2 genotype has been associated with the risk of cardiovascular, diabetes, and cardiovascular among individuals with glycaemia and has been linked with oxidative stress. By using vitamin E supplements, we can reduce the progression of cardiovascular disease in diabetes individuals.</p> Conclusion <p>Several factors contribute to inconsistent results for different populations in regard to Hp, such as sample size, genotyping and phenotyping techniques, the complex physiopathology of the target disorder, and therapeutic approaches utilized within various health systems. Additionally, variations in ethnic composition and population homogeneity can also impact these results. The initial phase in developing novel medications and prevention methods to reduce diabetic vascular problems is to clarify the molecular underpinnings of variations between the haptoglobin types.</p> Lay Summary <p>Haptoglobin acts as a biomarker in diabetes and cardiovascular diseases. The prevalence of these diseases in India is increasing day by day due to the presence of Hp2-2 allele. The role of&#xa0; Hp gene is associated with glycosylated haemoglobin, low- and high-density lipoprotein, and apolipoproteins. The computational methods were employed in assessing the effects of Hp gene alterations.</p>

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Haptoglobin Polymorphisms: Translational Insights and Regenerative Potential in Disease Management

  • 期刊论文

  • 发表日期：

    2025年3月10日

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  • Puneet,
  • Rattandeep Singh,
  • Vikash Bhardwaj,
  • Atul Kumar Upadhyay,
  • Manpreet Kaur,
  • Shashank Garg,
  • Amritesh Nagarwal,
  • Kiranjeet Kaur,
  • Abhinav Kumar

摘要

Purpose

Haptoglobin acts as an antioxidant but it plays a key role in infectious as well as non-infectious diseases. It has two co-dominant alleles, Hp1 and Hp2, which give rise to three genotypes Hp1-1, Hp2-1, and Hp2-2. The allelic and genotypic variations of haptoglobin have been observed in different populations and ethnic groups in various parts of the world. The importance of Hp types in illness will only become clear with further knowledge of the functional variations between the main Hp types and large-scale subject investigations. This review insights the molecular mechanism of haptoglobin and the allelic frequencies in India as well as in other countries. The analysis further investigated the relationship of haptoglobin with apolipoproteins, lipid profile, and anthropometric variables.

Methods

We search a literature by using specific keywords on PubMed, Scopus, and Web of Science to obtain relevant publications on haptoglobin; the relation of haptoglobin with cardiovascular disease, diabetes, anthropometric parameters, lipid profile, single nucleotide polymorphisms (SNPs), and biochemical parameters; and the prevalence of haptoglobin gene polymorphism in India and other countries.

Results

This review insights the different techniques used to determine the haptoglobin phenotype and different types of haptoglobin mutation that play a role in diseases. Some SNPs of Hp were associated with low levels of Hp, lipid profile, and heart diseases. Hp2-2 genotype has been associated with the risk of cardiovascular, diabetes, and cardiovascular among individuals with glycaemia and has been linked with oxidative stress. By using vitamin E supplements, we can reduce the progression of cardiovascular disease in diabetes individuals.

Conclusion

Several factors contribute to inconsistent results for different populations in regard to Hp, such as sample size, genotyping and phenotyping techniques, the complex physiopathology of the target disorder, and therapeutic approaches utilized within various health systems. Additionally, variations in ethnic composition and population homogeneity can also impact these results. The initial phase in developing novel medications and prevention methods to reduce diabetic vascular problems is to clarify the molecular underpinnings of variations between the haptoglobin types.

Lay Summary

Haptoglobin acts as a biomarker in diabetes and cardiovascular diseases. The prevalence of these diseases in India is increasing day by day due to the presence of Hp2-2 allele. The role of  Hp gene is associated with glycosylated haemoglobin, low- and high-density lipoprotein, and apolipoproteins. The computational methods were employed in assessing the effects of Hp gene alterations.