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Comment
. 2020 Feb 11;117(6):2740-2742.
doi: 10.1073/pnas.1921730117. Epub 2020 Jan 28.

Cystic fibrosis heterozygosity: Carrier state or haploinsufficiency?

David Fisman  1
Affiliations
Comment

Cystic fibrosis heterozygosity: Carrier state or haploinsufficiency?

David Fisman. Proc Natl Acad Sci U S A. .
No abstract available

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Conflict of interest statement

The author declares no competing interest.

Figures

Fig. 1.
Fig. 1.
Bar graph illustrating the difference in attributable risk percent (Left) and population-attributable risk percent (Right) for individuals heterozygous (light gray) and homozygous (dark gray) for mutated CFTR alleles, for selected CF-linked diseases. It can be seen that attributable risk for a given disease is higher in those with cystic fibrosis than in CF gene carriers. However, because of the higher prevalence of CFTR heterozygosity than homozygosity, the PAR% for these diseases is higher (generally, far higher) for CF gene carriers than for those with cystic fibrosis. An exception is bronchiectasis, where an extraordinarily high odds ratio in those with cystic fibrosis (∼920) results in similar PAR% estimates (12% for CF carriers vs. 9% for individuals with cystic fibrosis). Data for this bar graph are derived from Miller et al. (6). Prevalence estimates are as noted in the text.
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References

    1. Elborn J. S., Cystic fibrosis. Lancet 388, 2519–2531 (2016). - PubMed
    1. Burgel P. R., et al. ; ERS/ECFS Task Force on Provision of Care for Adults with Cystic Fibrosis in Europe , Future trends in cystic fibrosis demography in 34 European countries. Eur. Respir. J. 46, 133–141 (2015). - PubMed
    1. Strom C. M., et al. , Cystic fibrosis testing 8 years on: Lessons learned from carrier screening and sequencing analysis. Genet. Med. 13, 166–172 (2011). - PubMed
    1. Wiuf C., Do delta F508 heterozygotes have a selective advantage? Genet. Res. 78, 41–47 (2001). - PubMed
    1. Ferreira A., et al. , Sickle hemoglobin confers tolerance to Plasmodium infection. Cell 145, 398–409 (2011). - PubMed

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