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Genome-wide association study identifies novel loci predisposing to cutaneous melanoma

Overview of attention for article published in Human Molecular Genetics, September 2011
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Title
Genome-wide association study identifies novel loci predisposing to cutaneous melanoma
Published in
Human Molecular Genetics, September 2011
DOI 10.1093/hmg/ddr415
Pubmed ID
Authors

Christopher I. Amos, Li-E Wang, Jeffrey E. Lee, Jeffrey E. Gershenwald, Wei V. Chen, Shenying Fang, Roman Kosoy, Mingfeng Zhang, Abrar A. Qureshi, Selina Vattathil, Christopher W. Schacherer, Julie M. Gardner, Yuling Wang, D. Tim Bishop, Jennifer H. Barrett, Stuart MacGregor, Nicholas K. Hayward, Nicholas G. Martin, David L. Duffy, Graham J. Mann, Anne Cust, John Hopper, Kevin M. Brown, Elizabeth A. Grimm, Yaji Xu, Younghun Han, Kaiyan Jing, Caitlin McHugh, Cathy C. Laurie, Kim F. Doheny, Elizabeth W. Pugh, Michael F. Seldin, Jiali Han, Qingyi Wei

Abstract

We performed a multistage genome-wide association study of melanoma. In a discovery cohort of 1804 melanoma cases and 1026 controls, we identified loci at chromosomes 15q13.1 (HERC2/OCA2 region) and 16q24.3 (MC1R) regions that reached genome-wide significance within this study and also found strong evidence for genetic effects on susceptibility to melanoma from markers on chromosome 9p21.3 in the p16/ARF region and on chromosome 1q21.3 (ARNT/LASS2/ANXA9 region). The most significant single-nucleotide polymorphisms (SNPs) in the 15q13.1 locus (rs1129038 and rs12913832) lie within a genomic region that has profound effects on eye and skin color; notably, 50% of variability in eye color is associated with variation in the SNP rs12913832. Because eye and skin colors vary across European populations, we further evaluated the associations of the significant SNPs after carefully adjusting for European substructure. We also evaluated the top 10 most significant SNPs by using data from three other genome-wide scans. Additional in silico data provided replication of the findings from the most significant region on chromosome 1q21.3 rs7412746 (P = 6 × 10(-10)). Together, these data identified several candidate genes for additional studies to identify causal variants predisposing to increased risk for developing melanoma.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 137 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 2 1%
Italy 1 <1%
Uruguay 1 <1%
Colombia 1 <1%
Brazil 1 <1%
Australia 1 <1%
Belgium 1 <1%
Mexico 1 <1%
Unknown 128 93%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 25 18%
Researcher 25 18%
Student > Bachelor 13 9%
Professor > Associate Professor 10 7%
Professor 10 7%
Other 35 26%
Unknown 19 14%
Readers by discipline Count As %
Agricultural and Biological Sciences 40 29%
Biochemistry, Genetics and Molecular Biology 35 26%
Medicine and Dentistry 29 21%
Pharmacology, Toxicology and Pharmaceutical Science 1 <1%
Mathematics 1 <1%
Other 4 3%
Unknown 27 20%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 13 March 2012.
All research outputs
#15,740,207
of 25,374,647 outputs
Outputs from Human Molecular Genetics
#6,505
of 8,251 outputs
Outputs of similar age
#93,546
of 140,941 outputs
Outputs of similar age from Human Molecular Genetics
#62
of 98 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. This one is in the 37th percentile – i.e., 37% of other outputs scored the same or lower than it.
So far Altmetric has tracked 8,251 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.3. This one is in the 19th percentile – i.e., 19% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 140,941 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 33rd percentile – i.e., 33% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 98 others from the same source and published within six weeks on either side of this one. This one is in the 35th percentile – i.e., 35% of its contemporaries scored the same or lower than it.