Evidence map›Paper›PMID 16080203›Full record

ArticleGenetic epidemiology2005

Analysis of case-control studies of genetic and environmental factors with missing genetic information and haplotype-phase ambiguity.

Christine Spinka, Raymond J Carroll, Nilanjan Chatterjee

Abstract read
In one paragraph

Article in Genetic epidemiology, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed
–field-weighted citation impact
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

29 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. A two-SNP IL-6 promoter haplotype is associated with increased lung cancer risk.Journal of cancer research and clinical oncology · 2013
    Article
  10. Robust estimation for homoscedastic regression in the secondary analysis of case-control data.Journal of the Royal Statistical Society. Series B, Statistical methodology · 2013
    Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Review
  16. Association between CYP7A1 and the risk of proximal colon cancer in Japanese.International journal of molecular epidemiology and genetics · 2010
    Article
  17. Analysis of Case-Control Association Studies: SNPs, Imputation and Haplotypes.Statistical science : a review journal of the Institute of Mathematical Statistics · 2009
    Article
  18. Article
  19. Article
  20. 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

3 authors.

Christine SpinkaDepartment of Statistics, University of Missouri, Columbia, Missouri, USA.
Raymond J Carroll
Nilanjan Chatterjee

Funding

Pilot--Health Science ResearchP30ES009106 · NIEHS · TEXAS A&M UNIVERSITY SYSTEM · PI SAFE, STEPHEN H. · 1998 to 2006
$9.2M
Nutrition, Biostatistics and BioinformaticsR25CA090301 · NCI · TEXAS A&M UNIVERSITY SYSTEM · PI CARROLL, RAYMOND J. · 2001 to 2015
$7.6M
Methods for Epidemiology StudiesZ01CP010181 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI CHATTERJEE, NILANJAN · 2003 to 2008
$4.8M
Measurement Error, Nutrition and Breast/Colon CancerR37CA057030 · NCI · TEXAS A&M UNIVERSITY SYSTEM · PI CARROLL, RAYMOND J. · 2005 to 2014
$3.3M
Measurement Error, Nutrition, Physical Activity and CancerU01CA057030 · NCI · TEXAS A&M UNIVERSITY · PI CARROLL, RAYMOND J. · 2015 to 2019
$2.8M
MEASUREMENT ERROR, NUTRITION AND BREAST/COLON CANCERR01CA057030 · NCI · TEXAS A&M UNIVERSITY SYSTEM · PI CARROLL, RAYMOND J. · 1992 to 2004
$1.3M
Nutrition, Biostatistics & Bioinformatics Training GrantT32CA090301 · NCI · TEXAS A&M UNIVERSITY · PI CARROLL, RAYMOND J. · 2016 to 2020
$712k
NCI NIH HHS CA-57030NCI NIH HHS CA-90302NCI NIH HHS R01 CA057030NCI NIH HHS R25 CA090301NCI NIH HHS R37 CA057030NCI NIH HHS T32 CA090301NCI NIH HHS U01 CA057030NIEHS NIH HHS P30 ES009106NIEHS NIH HHS P30-ES09306
6 · The paper itself

Abstract

Case-control studies of unrelated subjects are now widely used to study the role of genetic susceptibility and gene-environment interactions in the etiology of complex diseases. Exploiting an assumption of gene-environment independence, and treating the distribution of environmental exposures as completely nonparametric, Chatterjee and Carroll recently developed an efficient retrospective maximum-likelihood method for analysis of case-control studies. In this article, we develop an extension of the retrospective maximum-likelihood approach to studies where genetic information may be missing on some study subjects. In particular, special emphasis is given to haplotype-based studies where missing data arise due to linkage-phase ambiguity of genotype data. We use a profile likelihood technique and an appropriate expectation-maximization (EM) algorithm to derive a relatively simple procedure for parameter estimation, with or without a rare disease assumption, and possibly incorporating information on the marginal probability of the disease for the underlying population. We also describe two alternative robust approaches that are less sensitive to the underlying gene-environment independence and Hardy-Weinberg-equilibrium assumptions. The performance of the proposed methods is studied using simulation studies in the context of haplotype-based studies of gene-environment interactions. An application of the proposed method is illustrated using a case-control study of ovarian cancer designed to investigate the interaction between BRCA1/2 mutations and reproductive risk factors in the etiology of ovarian cancer.

Indexed as

Case-Control StudiesEnvironmental ExposureGenetic Predisposition to DiseaseGenotypeModels, GeneticAlgorithmsAllelesEpidemiologic MethodsFemaleHaplotypesHumansLikelihood FunctionsLogistic ModelsOvarian NeoplasmsResearch DesignRisk Factors

Identifiers

PMID16080203
PMCPMC2585318

What OpenQuestion holds

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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.