Cystic Fibrosis: Cystic fibrosis and lactase persistence: a possible correlation

@article{Modiano2007CysticFC,
  title={Cystic Fibrosis: Cystic fibrosis and lactase persistence: a possible correlation},
  author={Guido Modiano and Bianca Maria Ciminelli and Pier Franco Pignatti},
  journal={European Journal of Human Genetics},
  year={2007},
  volume={15},
  pages={255-259}
}
C ystic fibrosis (CF) is the most common lethal genetic disease in Europeans and is transmitted as an autosomal recessive disorder caused by loss of function of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. Since long it has been supposed that its quite high frequency (1/ 2500 implying an allele frequency equal to 0.02) is due to a Europe-restricted selective advantage of the heterozygous CF/þ individuals. Nevertheless, this hypothesis has never been directly demonstrated… 
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Adult lactose digestion status and effects on disease.
  • A. Szilagyi
  • Biology, Medicine
    Canadian journal of gastroenterology & hepatology
  • 2015
TLDR
The changing concept of lactose intolerance; the possible impact on diseases of microbial adaptation in lactase-nonpersistent populations; and the possibility that the evolution of lactase has influenced some disease pattern distributions are reviewed.
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References

SHOWING 1-10 OF 25 REFERENCES
The cystic fibrosis heterozygote--advantage in surviving cholera?
TLDR
Evidence is presented which suggests that resistance to cholera may have been the environmental factor which selected CF heterozygotes over their 'normal' homozygote cohort and possible clinical applicability to therapy of secretory diarrhea.
Active intestinal chloride secretion in human carriers of cystic fibrosis mutations: an evaluation of the hypothesis that heterozygotes have subnormal active intestinal chloride secretion.
TLDR
The authors used an intestinal perfusion technique to measure in vivo basal and prostaglandin-stimulated jejunal chloride secretion in normal subjects, CF heterozygotes, and patients with CF, and the results do not support the theory that the very high frequency of CF mutations is due to a survival advantage that is conferred on heterozygote who contract diarrheal illnesses mediated by intestinal hypersecretion of chloride.
Chloride transport in nasal ciliated cells of cystic fibrosis heterozygotes.
TLDR
It is suggested that CFTR-dependent chloride conductance does not directly modulate disease severity but may be part of a more global defect in patients with CF involving other CFTR functions or currently unknown modulatory factors.
Cystic fibrosis: A worldwide analysis of CFTR mutations—correlation with incidence data and application to screening
TLDR
From comprehensive assessment of data, it is offered recommendations that multiple CFTR alleles should eventually be included to increase the sensitivity of newborn screening programs employing two‐tier testing with trypsinogen and DNA analysis.
Extended haplotype analysis of cystic fibrosis mutations and its implications for the selective advantage hypothesis
TLDR
The results of this study indicate that grouping of CF chromosome by haplotype analysis spanning a small extragenic region might not be sufficient and that the majority of the CF mutations are associated with the same extended haplotype, supporting the selective advantage hypothesis.
Identification of a variant associated with adult-type hypolactasia
TLDR
A DNA variant, C/T−13910, completely associates with biochemically verified lactase non-persistence in Finnish families and a sample set of 236 individuals from four different populations, indicating that it is very old.
The origin of the major cystic fibrosis mutation (ΔF508) in European populations
TLDR
Haplotype data demonstrate that ΔF508 occurred more than 52,000 years ago, in a population genetically distinct from any present European group, and spread throughout Europe in chronologically distinct expansions, which are responsible for the different frequencies of ΔF50 in Europe.
CYSTIC FIBROSIS HETEROZYGOTE RESISTANCE TO CHOLERA TOXIN IN THE CYSTIC FIBROSIS MOUSE MODEL
TLDR
It is proposed that the widespread distribution of cystic fibrosis may reflect an underlying benefit to heterozygous individuals for CFTR mutations via increased resistance to secretory diarrhea, thus negating any benefit to human homozygotes.
The origin of the major cystic fibrosis mutation (delta F508) in European populations.
TLDR
Haplotype data demonstrate that delta F508 occurred more than 52,000 years ago, in a population genetically distinct from any present European group, and spread throughout Europe in chronologically distinct expansions, which are responsible for the different frequencies of delta F50 in Europe.
Highly preferential association of NonF508del CF mutations with the M470 allele.
TLDR
The possibility of exploiting this preferential association of CF causing mutations with the M allele of the M470V polymorphic site of the CFTR gene for a pilot screening program has been explored in a local North East Italian population for which CF patients were characterized for their CF mutation.
...
1
2
3
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