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Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias

Weatherall, D. J.·2001·Nature Reviews Genetics

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Abstract

The remarkable phenotypic diversity of the beta-thalassaemias reflects the heterogeneity of mutations at the beta-globin locus, the action of many secondary and tertiary modifiers, and a wide range of environmental factors. It is likely that phenotype-genotype relationships will be equally complex in the case of many monogenic diseases. These findings highlight the problems that might be encountered in defining the relationship between the genome and the environment in multifactorial disorders, in which the degree of heritability might be relatively low and several environmental agents are involved. They also emphasize the value of an understanding of phenotype-genotype relationships in designing approaches to gene therapy.

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Authors: Weatherall, D. J.
Affiliations: John Radcliffe Hospital (GB)
Corresponding author: Weatherall, D. J.
Venue: Nature Reviews Genetics
Publisher: Springer Science and Business Media LLC
Published: 2001-04
Volume: 2
Issue: 4
Pages: 245-255
ISSN: 1471-0056 (ISSN-L)
1471-0064
DOI: 10.1038/35066048
OpenAlex: W1598569053
Cited by: 692
References: 79
Citations by year: 2026: 13 · 2025: 17 · 2024: 27 · 2023: 32 · 2022: 16 · 2021: 31 · 2020: 27 · 2019: 28 · 2018: 39 · 2017: 32 · 2016: 33 · 2015: 29 · 2014: 26 · 2013: 35 · 2012: 26
FWCI: 5.59
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Reviews Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Genetics (clinical) › Hemoglobinopathies and Related Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: genotype-phenotype correlation, beta-thalassemia, monogenic disorders, genetic modifiers, environmental factors, heritability, complex diseases, gene therapy
MeSH terms: Alleles, Bilirubin, Bone Diseases, Environment, Genes, Dominant, Genes, Recessive, Multigene Family, Genotype, Hemoglobins, Humans, Iron, Mutation, Phenotype, Thalassemia, Genetic Variation

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Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias

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