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Is Pi a selectively balanced polymorphism?

N G Martin, J G Oakeshott

    Human Heredity
    |January 1, 1983
    PubMed
    Summary
    This summary is machine-generated.

    Stable polymorphism of alpha 1-antitrypsin (alpha 1-AT) alleles M1, M2, and M3 was predicted by linking fitness to alpha 1-AT levels. Rare S and Z genotypes showed enhanced fertility, but their equilibria were unstable.

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    Area of Science:

    • Genetics
    • Biochemistry
    • Population genetics

    Background:

    • Alpha 1-antitrypsin (alpha 1-AT) deficiency is a genetic disorder.
    • Pi alleles (M, S, Z) influence alpha 1-AT levels and are associated with varying health outcomes.
    • Understanding allele frequencies and their stability is crucial for genetic counseling and disease management.

    Purpose of the Study:

    • To predict stable polymorphism of Pi alleles M1, M2, and M3.
    • To investigate the impact of alpha 1-AT levels on genotype fitness.
    • To model allele equilibria for M, S, and Z alleles, considering fertility variations.

    Main Methods:

    • Relating genotype fitness to the proportion of individuals with alpha 1-AT levels > 100 mg/100 ml.
    • Incorporating enhanced fertility for rare S and Z genotypes into population genetic models.

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  • Analyzing allele frequencies and predicting equilibrium states.

    • Main Results:

    • A stable polymorphism for Pi alleles M1, M2, and M3 was predicted, aligning with observed frequencies.
    • Equilibria for M, S, and Z alleles were predicted near observed frequencies when enhanced fertility of S and Z was considered.
    • However, these M, S, and Z equilibria were found to be unstable, primarily due to the high predicted fitness of the SS genotype.

    Conclusions:

    • Fitness linked to alpha 1-AT levels can explain stable polymorphism of common Pi alleles.
    • While enhanced fertility in rare genotypes influences equilibria, it does not guarantee stability.
    • The high fitness of the SS genotype poses a challenge to the stability of M, S, and Z allele equilibria.