Evidence map›Paper›PMID 17901983›Full record

ArticleHuman genetics2008

CFTR mutations and reproductive outcomes in a population isolate.

Irene Gallego Romero, Carole Ober

Abstract read
PubMed Publisher
In one paragraph

Article in Human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
2.2field-weighted citation impact, top 12% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

10 citing papers in PubMed, 20 citations in OpenAlex.

  1. Article
  2. Clinical Phenotypes of Cystic Fibrosis Carriers.Annual review of medicine · 2022
    Review
  3. Article
  4. Article
  5. Article
  6. Haplotypes versus genotypes on pedigrees.Algorithms for molecular biology : AMB · 2011
    Article
  7. Article
  8. Article
  9. Article
  10. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors at 2 institutions in 2 countries.

Irene Gallego RomeroDepartment of Human Genetics, The University of Chicago, 920 East 58th Street, CLSC 507C, Chicago, IL, 60637, USA. c-ober@genetics.uchicago.edu
Carole Ober
University of Cambridge · GBUniversity of Chicago · US

Funding

ZOLEDRONATE &OSTEOPOROTIC EFFECTS OF ANDROGEN DEPRIVATIM01RR000055 · NCRR · UNIVERSITY OF CHICAGO · PI DE WIT, HARRIET · 1985 to 2007
$19.0M
T CELL CO-STIMULATION IN ALLERGIC ASTHMAP50HL056399 · NHLBI · UNIVERSITY OF CHICAGO · PI WHITE, STEVEN R · 1996 to 2005
$9.1M
MOLECULAR GENETIC STUDIES OF FERTILITY IN THE HUTTERITESR01HD021244 · NICHD · UNIVERSITY OF CHICAGO · PI OBER, CAROLE · 1986 to 2011
$3.0M
CHARACTERIZING A 5P-LINKED BHR SUSCEPTIBILITY LOCUSR01HL066533 · NHLBI · UNIVERSITY OF CHICAGO · PI OBER, CAROLE · 2000 to 2004
$2.4M
NCRR NIH HHS M01 RR00055NHLBI NIH HHS HL56399NHLBI NIH HHS HL66533NICHD NIH HHS HD21244
6 · The paper itself

Abstract

Multiple hypotheses have been proposed to explain the high incidence of cystic fibrosis in Caucasian populations. Most rely on a fitness advantage to carriers of CF mutations, either through increased resistance to infectious disease, such as cholera, or through increased fertility. In this study we tested the latter hypothesis in the Hutterites of South Dakota, a genetic isolate with a relatively high CF carrier frequency. Following a population-wide screen for the only two mutations present in the Hutterites (M1101K, DeltaF508), we tested for associations between carrier status and measures of fertility. There was no evidence of nonrandom transmission of mutations (P = 0.409) or skewed sex ratios (P = 0.847) in children of carrier parents. Moreover, carrier status was not associated with overall fertility (P = 0.597 for carrier fathers and 0.694 for carrier mothers). Although carrier males' sibship sizes were larger than carrier females' sibship sizes (P = 0.049), this was not significant after accounting for multiple testing. Overall, our results suggest that if there is a fertility advantage among CF carriers, it is too small to be detected in our sample (85 carriers out of approximately 950 screened), or the effects are confined to DeltaF508 carriers, for which there are too few in our sample to test this specific hypothesis.

Indexed as

Social IsolationChildCystic Fibrosis Transmembrane Conductance RegulatorFamilyFemaleFertilityGene FrequencyGenetic Carrier ScreeningGenetics, PopulationGenotypeHumansInheritance PatternsMaleMutationReproductionCystic Fibrosis Transmembrane Conductance Regulator

Identifiers

PMID17901983
OpenAlexW2050021647

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.