Evidence map›Paper›PMID 18597734›Full record

ArticleAmerican journal of human genetics2008

Genotype-specific recurrence risks as indicators of the genetic architecture of complex diseases.

Montgomery Slatkin

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.8field-weighted citation impact, top 23% 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

4 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Article
  3. Rare and common variants: twenty arguments.Nature reviews. Genetics · 2012
    Review
  4. Review
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

1 author at 1 institution in 1 country.

Montgomery SlatkinDepartment of Integrative Biology, University of California, Berkeley, CA 94720-3140, USA. slatkin@berkeley.edu
Integra (United States) · US

Funding

MODELS OF COMPLEX GENETIC SYSTEMSR01GM040282 · NIGMS · UNIVERSITY OF CALIFORNIA BERKELEY · PI SLATKIN, MONTGOMERY WILSON · 1988 to 2017
$4.4M
NIGMS NIH HHS R01 GM040282NIGMS NIH HHS R01-GM40282
6 · The paper itself

Abstract

A statistic is introduced that relates discoveries made in genome-wide association (GWA) studies to patterns of disease risks among relatives. The genotype-specific recurrence risk (GSR) is the genotype-specific risk to relatives of known relationship to affected probands. The GSRs can be used for three purposes. (1) They can provide an independent test of whether an allele identified in a GWA study is associated with the disease. (2) They can provide a test of whether interactions among loci affecting the disease are multiplicative. (3) They can be used by genetic counselors to incorporate information from GWA studies for predicting the risk to relatives of known genotype. Under a multiplicative model of disease causation, the GSRs for a locus are the genotypic risks in probands for that locus multiplied by lambda(R)/lambda(jR), where lambda(R) is Risch's recurrence risk ratio and lambda(jR) is the contribution to lambda(R) from the locus of interest. If there is saturation of risk with increasing numbers of causative alleles, then observed GSRs for individuals with high-risk genotypes will be lower than predicted by the multiplicative model.

Indexed as

GenesGenetic Predisposition to DiseaseRiskAgedAged, 80 and overAllelesCase-Control StudiesChromosome MappingChromosomes, Human, Pair 10Computer SimulationGene FrequencyGenetics, PopulationGenotypeHumansMacular DegenerationMathematics

Identifiers

PMID18597734
PMCPMC2443843
OpenAlexW2152781144

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.