|
rs1110400
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The 7 variants p.D84E, p.R142H, p.R151C, p.I155T, p.R160W, p. R163Q and p.D294H were significantly associated with melanoma development, with ORs (95%CI) ranging from 1.42 (1.09-1.85) for p.R163Q to 2.45 (1.32-4.55) for p.I155T.
|
18366057 |
2008 |
|
rs11547464
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The summary risk of melanoma associated with individual variants ranged from OR 2.40 for R142H to 1.18 for V60L, although significant heterogeneity was evident for most variants.
|
21128237 |
2011 |
|
rs11547464
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Only the Val60Leu, Arg142His, and Arg151Cys variants were significantly associated with melanoma risk.
|
16601669 |
2006 |
|
rs1232525952
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, we observed that a carrier of the founder CDKN2A [p.Leu113Leu;p.Pro114Ser] mutation as well as two MC1R moderate-risk variants, [p.Arg151Cys(+)p.Arg163Gln] developed 22 primary melanomas in the three years that followed initiation of levodopa therapy for Parkinson's disease.
|
17492760 |
2007 |
|
rs1340863788
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, we observed that a carrier of the founder CDKN2A [p.Leu113Leu;p.Pro114Ser] mutation as well as two MC1R moderate-risk variants, [p.Arg151Cys(+)p.Arg163Gln] developed 22 primary melanomas in the three years that followed initiation of levodopa therapy for Parkinson's disease.
|
17492760 |
2007 |
|
rs1805005
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The summary risk of melanoma associated with individual variants ranged from OR 2.40 for R142H to 1.18 for V60L, although significant heterogeneity was evident for most variants.
|
21128237 |
2011 |
|
rs1805005
|
|
|
0.060 |
GeneticVariation |
BEFREE |
We aim to examine the influence of the MC1R variants (RHC: D84E, R151C, R160W; NRHC: V60L, R163Q and the synonymous polymorphism T314T) on the MM risk in a population from the Canary Islands.
|
24170137 |
2014 |
|
rs1805005
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Carrying any one of the four most frequent MC1R variants (V60L, V92M, R151C, R160W) in CDKN2A mutation carriers was associated with a statistically significantly increased risk for melanoma across all continents (1.24 × 10(-6) ≤ P ≤ .0007).
|
20876876 |
2010 |
|
rs1805005
|
|
|
0.060 |
GeneticVariation |
BEFREE |
No association with melanoma or phenotype was found for p.V60L and p.V92M variants.
|
18366057 |
2008 |
|
rs1805005
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Only the Val60Leu, Arg142His, and Arg151Cys variants were significantly associated with melanoma risk.
|
16601669 |
2006 |
|
rs1805005
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Melanoma risk increased with presence of any of the main MC1R variants: the SOR for each variant ranged from 1.47 (95%CI: 1.17-1.84) for V60L to 2.74 (1.53-4.89) for D84E.
|
24917043 |
2015 |
|
rs1805006
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Melanoma risk increased with presence of any of the main MC1R variants: the SOR for each variant ranged from 1.47 (95%CI: 1.17-1.84) for V60L to 2.74 (1.53-4.89) for D84E.
|
24917043 |
2015 |
|
rs1805006
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma.
|
8894704 |
1996 |
|
rs1805006
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We conclude that numerous melanocortin 1 receptor variants predispose to cutaneous melanoma and that possibly the Asp84Glu variant confers the highest risk.
|
11511307 |
2001 |
|
rs1805006
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In a multivariate model, however, only the D84E polymorphism influenced melanoma risk independently of the risk factors fair skin type, high nevus count and high age (P = 0.047).
|
17072629 |
2007 |
|
rs1805007
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Using age and sex-adjusted logistic regression, one specific variant, R151C, conferred significantly increased melanoma risk among Ashkenazim (OR=2.6, 95% CI: 1.3-5.3; p=0.05 after Bonferroni correction).
|
19269164 |
2009 |
|
rs1805007
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The rs1042522 was also selected as a CM risk factor in multivariate models, suggesting an effect that is independent from and complementary to that of rs1805007.
|
31612033 |
2019 |
|
rs1805007
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The highest risk of melanoma was associated with the Arg151Cys variant (odds ratio (OR) 4.47, 95% confidence interval (CI) 2.19-9.14, P<0.001).
|
23522749 |
2013 |
|
rs1805007
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Carrying any one of the four most frequent MC1R variants (V60L, V92M, R151C, R160W) in CDKN2A mutation carriers was associated with a statistically significantly increased risk for melanoma across all continents (1.24 × 10(-6) ≤ P ≤ .0007).
|
20876876 |
2010 |
|
rs1805007
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Furthermore, we observed that a carrier of the founder CDKN2A [p.Leu113Leu;p.Pro114Ser] mutation as well as two MC1R moderate-risk variants, [p.Arg151Cys(+)p.Arg163Gln] developed 22 primary melanomas in the three years that followed initiation of levodopa therapy for Parkinson's disease.
|
17492760 |
2007 |
|
rs1805007
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Some features characteristic of the population were found, i.e. melanoma is mostly associated with R160W or R151C while variant D294H is extremely rare; simultaneous carriage of any two investigated variants is also strongly associated with melanoma; R151C is associated with ulceration and consequently the disease course is more aggressive, etc.
|
30086893 |
2018 |
|
rs1805007
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Furthermore, a non-significant tendency towards an association between melanoma risk and MC1R variants G274A and C451T and a non-significant linear tendency to the number of infrequent high-risk variants in MC1R were observed.
|
22621339 |
2013 |
|
rs1805007
|
|
T |
0.800 |
GeneticVariation |
GWASCAT |
Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.
|
28212542 |
2017 |
|
rs1805007
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Only the Val60Leu, Arg142His, and Arg151Cys variants were significantly associated with melanoma risk.
|
16601669 |
2006 |
|
rs1805007
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Two MC1R germline variants, Arg151Cys and Asp294His, were significantly associated with melanoma in Sardinia.
|
19799798 |
2009 |