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APOE distribution in world populations with new data from India and the UK
Abstract
Background The APOE gene and its protein product is associated with a number of plasma proteins like very-low density lipoprotein (VLDL), high density lipoprotein (HDL) chylomicrons, chylomicron remnants, and plays a crucial role in lipid metabolism. The APOE gene is polymorphic and common alleles (*E2, *E3 and *E4) have been associated with a number of common and complex diseases in different populations. Due to their crucial role in metabolism and clinical significance, it is imperative that allelic variation in different populations is analysed to evaluate the usage of APOE in an evolutionary and clinical context. Aim We report allelic variation at the APOE locus in three European and four Indian populations and evaluate global patterns of genetic variation at this locus. The large, intricate and unexpected heterogeneity of this locus in its global perspective may have insightful consequences, which we have explored in this paper. Subject and methods Apolipoprotein E genotypes were determined in four population groups (Punjabi Sikhs, Punjabi Hindus, Maria Gonds and Koch, total individuals = 497) of India and three regionally sub-divided British populations (Nottinghamshire, East Midlands and West Midlands, total individuals = 621). The extent and distribution of APOE allele frequencies were compared with 292 populations of the world using a variety of multivariate methods. Results Three alleles, APOE*E2, APOE*E3 and APOE*E4, were observed with contrasting variation, althou…
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“Given that the worldwide allele frequency of APOE2 is less than ten percent (35), which limits statistical power, we turned to large public datasets.”
From Apolipoprotein E2 Stimulates Protein Synthesis and Promotes Melanoma Progression and Metastasis (2023) · cites this paper as [35]
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Metadata
- Authors
- Singh, P. P., Singh, M., & Mastana, S. S.
- Affiliations
- Punjabi University (IN)
- Loughborough University (GB)
- Corresponding author
- Mastana, S. S.
- Venue
- Annals of Human Biology
- Publisher
- Informa UK Limited
- Published
- 2006-01
- Volume
- 33
- Issue
- 3
- Pages
- 279-308
- ISSN
- 0301-4460 (ISSN-L)
- 1464-5033
- OpenAlex
- W2065859331
- Cited by
- 351
- References
- 217
- Citations by year
- 2026: 13 · 2025: 18 · 2024: 21 · 2023: 22 · 2022: 21 · 2021: 23 · 2020: 24 · 2019: 24 · 2018: 21 · 2017: 14 · 2016: 22 · 2015: 16 · 2014: 19 · 2013: 13 · 2012: 16
- FWCI
- 5.32
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annals of Human Biology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Loughborough University
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipoproteins and Cardiovascular Health
- Keywords
- apolipoprotein E, APOE alleles, allele frequency, genetic variation, population genetics, APOE ε4, heterozygosity, Punjabi Sikhs, British population, gene differentiation, lipid metabolism
- MeSH terms
- Apolipoproteins E, Gene Frequency, Genetics, Population, Genotype, United Kingdom, Humans, India, Genetic Variation
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