What maintains the frequencies of human genetic diseases?

  title={What maintains the frequencies of human genetic diseases?},
  author={Jerome I. Rotter and Jared M. Diamond},
Hemochromatosis: Niche Construction and the Genetic Domino Effect in the European Neolithic
It is hypothesized that positive selection for HFE began during or after the European Neolithic with the adoption of an iron-deficient high-grain and dairying diet and consequent anemia, a finding confirmed in Neolithic and later European skeletons.
The Nramp1AA genotype confers susceptibility to Brucella abortus in water buffalo
Evidence is provided that the Nramp1AA genotype is associated with susceptibility to the same pathogen, as detected by the denaturing gradient gel electrophoresis (DGGE) technique.
Novel Pyridine‐Based Hydroxamates and 2′‐Aminoanilides as Histone Deacetylase Inhibitors: Biochemical Profile and Anticancer Activity
Both pyridylacrylic‐ and nicotinic‐based hydroxamates and 2′‐aminoanilides were class I‐selective HDAC inhibitors, generally more potent against HDAC3, with the Nicotinic anilide 12 d being the most effective (IC50HDAC3=0.113 μM).
Antagonistic pleiotropy in mice carrying a CAG repeat expansion in the range causing Huntington’s disease
This novel mouse line provides direct experimental evidence that, although the HD mutation causes a fatal neurodegenerative disorder, there may be premorbid benefits of carrying the mutation.
Public Interest in Carrier Screening in the Brazilian Population
The carrier risks for these disorders, and the interest presented here, justify a need for expansion of Brazil’s genetic services to include population-wide preconception and prenatal carrier screening.
Female Orgasm and the Phallic Constraint Hypothesis: The Consequence of the Byproduct Account
  • Psychology
  • 2017
Whereas Gould & Lewontin (1979) accuse adaptationists of ignoring developmental constraints, it has been claimed that this problem is not intrinsic to adaptationism, and that adaptationism has
Carrier Screening, Prenatal Diagnosis, and the Molecular Era
This analysis represents a prototypic effort in coordinating adult education, carrier testing, and genetic counseling directed toward prospective prevention of a uniformly fatal childhood disease and demonstrates that such an effort can dramatically affect disease incidence.
Letter to the editor: Reply to Kasvosve (2016).
The evolutionary adaptation of the C282Y mutation to culture and climate during the European Neolithic
The results indicate that the deleterious C282Y allele, responsible for most cases of hemochromatosis, may have evolved as a selective advantage to culture and climate during the European Neolithic.
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
It is surmised that the higher fertility of female c.657del5 carriers reflects a lower miscarriage rate in these women, thereby reflecting the role of the NBN gene product, nibrin, in the repair of DNA double strand breaks and their processing in immune gene rearrangements, telomere maintenance, and meiotic recombination, akin to the previously described roles of the DNA repair genes BRCA1 and BRCa2.


Genetic and evolutionary implications in peptic ulcer disease.
An evolutionary hypothesis based on selection for peptic activity and acidity is offered to explain several of the epidemiologic and genetic elements of this group of chronic diseases.
Diabetes mellitus in the Pima Indians: genetic and evolutionary considerations.
Findings in the Pimas of differences in insulin sensitivity in different metabolic pathways suggest that the thrifty genotype involves the ability of insulin to maintain fat stores despite resistance to glucose disposal.
The genetics of diabetes mellitus.
  • J. Neel
  • Medicine, Biology
    Advances in metabolic disorders
  • 1970
The Tay-Sachs disease gene in North American Jewish populations: geographic variations and origin.
The findings suggest that the TSD gene proliferated among the antecedents of modern Ashkenazi Jewry after the Second Diaspora and before their major migrations to regions of Poland and Russia before 1100 A.D.
Preferential transmission of diabetic alleles within the HLA gene complex.
The data suggest that differential parental transmission of the HLA-DR4-linked diabetes-predisposing allele may explain the higher risk of diabetes among children of diabetic fathers than among those of diabetic mothers.
Hemochromatosis: current concepts and management.
The disease is still underdiagnosed or diagnosed too late. Only through routine measurement of serum iron concentration, scrupulous follow-up of abnormal liver function tests, and thorough family