Evidence map›Paper›PMID 19578365›Full record

ArticleNature genetics2009

Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.

Mario Falchi, Veronique Bataille, Nicholas K Hayward, David L Duffy, Julia A Newton Bishop, Tomi Pastinen, Alessandra Cervino, Zhen Z Zhao, Panos Deloukas, Nicole Soranzo and 6 more

Abstract readTwin Study
In one paragraph

Article in Nature genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 110 papers, 12 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
110citing papers in PubMed, 12 pooled it
13.6field-weighted citation impact, top 1% 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

110 citing papers in PubMed, 12 syntheses or guidelines pooled it, 224 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Pooled it
  6. Pooled it
  7. Pooled it
  8. Pooled it
  9. Pooled it
  10. Pooled it
  11. Pooled it
  12. Pooled it
  13. Article
  14. Article
  15. Review
  16. Article
  17. Article
  18. Article
  19. Article
  20. Review

50 more citing papers are in PubMed but not listed here.

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

16 authors at 8 institutions in 4 countries.

Mario FalchiDepartment of Twin Research & Genetic Epidemiology, Kings College London, St. Thomas' Hospital Campus, London, UK. m.falchi@imperial.ac.uk
Veronique Bataille
Nicholas K Hayward
David L Duffy
Julia A Newton Bishop
Tomi Pastinen
Alessandra Cervino
Zhen Z Zhao
Panos Deloukas
Nicole Soranzo
David E Elder
Jennifer H Barrett
Nicholas G Martin
D Timothy Bishop
Grant W Montgomery
Timothy D Spector
QIMR Berghofer Medical Research Institute · AUUniversity of Leeds · GBKing's College London · GBSt Thomas' Hospital · GBImperial College London · GBMcGill University and Génome Québec Innovation Centre · CAUniversity of Pennsylvania · USWellcome Sanger Institute · GB

Funding

Genetic Epidermiology of MelanomaR01CA083115 · NCI · UNIVERSITY OF PENNSYLVANIA · PI BISHOP, DAVID TIMOTHY, ELDER, DAVID ERIC · 2001 to 2017
$13.0M
Pathways from genotype and environment to melanomaR01CA088363 · NCI · QUEENSLAND INSTITUTE OF MEDICAL RESEARCH · PI HAYWARD, NICHOLAS K · 2001 to 2012
$2.4M
Cancer Research UK 10589Cancer Research UK C588/A4994Department of HealthNCI NIH HHS CA88363NCI NIH HHS R01 CA083115NCI NIH HHS R01 CA088363NCI NIH HHS R01 CA83115Wellcome Trust 077011Wellcome Trust 091746
6 · The paper itself

Abstract

A high melanocytic nevi count is the strongest known risk factor for cutaneous melanoma. We conducted a genome-wide association study for nevus count using 297,108 SNPs in 1,524 twins, with validation in an independent cohort of 4,107 individuals. We identified strongly associated variants in MTAP, a gene adjacent to the familial melanoma susceptibility locus CDKN2A on 9p21 (rs4636294, combined P = 3.4 x 10(-15)), as well as in PLA2G6 on 22q13.1 (rs2284063, combined P = 3.4 x 10(-8)). In addition, variants in these two loci showed association with melanoma risk in 3,131 melanoma cases from two independent studies, including rs10757257 at 9p21, combined P = 3.4 x 10(-8), OR = 1.23 (95% CI = 1.15-1.30) and rs132985 at 22q13.1, combined P = 2.6 x 10(-7), OR = 1.23 (95% CI = 1.15-1.30). This provides the first report of common variants associated to nevus number and demonstrates association of these variants with melanoma susceptibility.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyAllelesChromosomes, Human, Pair 22Chromosomes, Human, Pair 9HomozygoteHumansMelanomaNevusPolymorphism, Single NucleotidePrecancerous ConditionsSkin NeoplasmsUnited Kingdom

Identifiers

PMID19578365
PMCPMC3080738
OpenAlexW2062532725

What OpenQuestion holds

Textmetadata
LicenceTDM
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.