|
melanoma
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Our data showed an increased risk of melanoma (odds ratio [OR] 1.27, 95% confidence interval [95% CI] 1.03-1.57) in carriers of the rs4911414 variant, located 120 kb upstream of ASIP.
|
22628150 |
2013 |
|
melanoma
|
0.380 |
Biomarker
|
disease |
BEFREE |
Few high penetrance genes are known in Malignant Melanoma (MM), however, the involvement of low-penetrance genes such as MC1R, OCA2, ASIP, SLC45A2 and TYR has been observed.
|
23537197 |
2013 |
|
melanoma
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Eight loci were identified in the main meta-analyses as being associated with a risk of CM (P < .05) of which four loci showed a genome-wide statistically significant association (P < 1 × 10(-7)), including 16q24.3 (MC1R), 20q11.22 (MYH7B/PIGU/ASIP), 11q14.3 (TYR), and 5p13.2 (SLC45A2).
|
21693730 |
2011 |
|
melanoma
|
0.380 |
Biomarker
|
disease |
CTD_human |
In this discovery phase, we confirm several previously characterized melanoma-associated loci at MC1R, ASIP and MTAP-CDKN2A.
|
21983785 |
2011 |
|
melanoma
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
The haplotype near ASIP (rs4911414[T] and rs1015362[G]) was significantly associated with fair skin color (OR, 2.28; 95% CI, 1.46-3.57) as well as the risks of melanoma (OR, 1.68; 95% CI, 1.18-2.39) and SCC (OR, 1.54; 95% CI, 1.08-2.19).
|
19384953 |
2009 |
|
melanoma
|
0.380 |
Biomarker
|
disease |
CTD_human |
A haplotype near ASIP, known to affect a similar spectrum of pigmentation traits as MC1R variants, conferred significant risk of CM (odds ratio (OR) = 1.45, P = 1.2 x 10(-9)) and BCC (OR = 1.33, P = 1.2 x 10(-6)).
|
18488027 |
2008 |
|
melanoma
|
0.380 |
GeneticVariation
|
disease |
LHGDN |
A haplotype near ASIP, known to affect a similar spectrum of pigmentation traits as MC1R variants, conferred significant risk of CM (odds ratio (OR) = 1.45, P = 1.2 x 10(-9)) and BCC (OR = 1.33, P = 1.2 x 10(-6)).
|
18488027 |
2008 |
|
melanoma
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
A haplotype near ASIP, known to affect a similar spectrum of pigmentation traits as MC1R variants, conferred significant risk of CM (odds ratio (OR) = 1.45, P = 1.2 x 10(-9)) and BCC (OR = 1.33, P = 1.2 x 10(-6)).
|
18488027 |
2008 |
|
melanoma
|
0.380 |
Biomarker
|
disease |
CTD_human |
Gray horses carrying a loss-of-function mutation in ASIP (agouti signaling protein) had a higher incidence of melanoma, implying that increased melanocortin-1 receptor signaling promotes melanoma development in Gray horses.
|
18641652 |
2008 |
|
melanoma
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Gray horses carrying a loss-of-function mutation in ASIP (agouti signaling protein) had a higher incidence of melanoma, implying that increased melanocortin-1 receptor signaling promotes melanoma development in Gray horses.
|
18641652 |
2008 |
|
melanoma
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
We examined MC1R and ASIP genotypes in relation to phenotypic characteristics, sporadic and familial melanoma risk, and melanoma thickness as an indicator of disease progression in a Mediterranean population.
|
15998953 |
2005 |
|
melanoma
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
We sought to characterize the agouti signaling protein gene (ASIP) in a group of white subjects, to assess whether ASIP was a determinant of human pigmentation and whether this gene may be associated with increased melanoma risk.
|
11833005 |
2002 |