Evidence map›Paper›PMID 12082588›Full record

ArticleThe pharmacogenomics journal2002

Linkage disequilibrium mapping identifies a 390 kb region associated with CYP2D6 poor drug metabolising activity.

L K Hosking, P R Boyd, C F Xu, M Nissum, K Cantone, I J Purvis, R Khakhar, M R Barnes, U Liberwirth, K Hagen-Mann and 2 more

Abstract read
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In one paragraph

Article in The pharmacogenomics journal, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
3.8field-weighted citation impact, top 8% 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

11 citing papers in PubMed, 44 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Genome scanning by composite likelihood.American journal of human genetics · 2007
    Article
  5. Article
  6. Article
  7. Bayesian graphical models for genomewide association studies.American journal of human genetics · 2006
    Article
  8. Article
  9. Article
  10. Multipoint linkage-disequilibrium mapping narrows location interval and identifies mutation heterogeneity.Proceedings of the National Academy of Sciences of the United States of America · 2003
    Article
  11. 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

12 authors at 3 institutions in 2 countries.

L K HoskingGlaxoSmithKline Medicines Research Centre, Stevenage, Herts, UK. lkh47482@gsk.com
P R Boyd
C F Xu
M Nissum
K Cantone
I J Purvis
R Khakhar
M R Barnes
U Liberwirth
K Hagen-Mann
M G Ehm
J H Riley
GlaxoSmithKline (United Kingdom) · GBAge UK · GBResearch Triangle Park Foundation · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The cytochrome p450 enzyme, CYP2D6, metabolises approximately 20% of marketed drugs. CYP2D6 multiple variants are associated with altered enzyme activities. Genotyping 1018 Caucasians for CYP2D6 polymorphisms (G1846A, delT1707, delA2549 and A2935C), known to result in the recessive CYP2D6 poor drug metaboliser (PM) phenotype, identified 41 individuals with predicted PM phenotype. These 41 individuals were classified as 'cases'. Single nucleotide polymorphisms (SNPs) mapping within an 880 kb region flanking CYP2D6, were identified to evaluate potential association between genetic variation and the CYP2D6 PM phenotype. The 41 PM cases and 977 controls were genotyped and analysed for 27 SNPs. Associations were observed across a 390 kb region between 14 SNPs and the PM phenotype (P values from 6.20 x 10(-4) to 4.54 x 10(-35)). Haplotype analysis revealed more significant levels of association (P = 3.54 x 10(-56)). Strong (D' > 0.7) linkage disequilibrium (LD) between SNPs was observed across the same 390 kb region associated with the CYP2D6 phenotype. The observed phenotype:genotype association reached genome-wide levels of significance, and supports the strategy for potential application of LD mapping and whole genome association scans to pharmacogenetic studies.

Indexed as

Chromosome MappingChromosomesCytochrome P-450 CYP2D6Gene FrequencyGenetic MarkersGenotypeHaplotypesHumansLinkage DisequilibriumPharmaceutical PreparationsPhenotypePolymorphism, GeneticCytochrome P-450 CYP2D6Genetic MarkersPharmaceutical Preparations

Identifiers

PMID12082588
OpenAlexW2006955426

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.