|
melanoma
|
|
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 |
|
melanoma
|
|
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 |
|
Hair Color
|
|
0.800 |
GeneticVariation
|
GWASCAT |
Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.
|
30531825 |
2018 |
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Carriers of the mutant R151C allele should exercise caution in terms of exposure to the sun to avoid the risk of melanoma development.
|
27755135 |
2018 |
|
Hair Color
|
|
0.800 |
GeneticVariation
|
GWASCAT |
Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.
|
30531825 |
2018 |
|
melanoma
|
|
0.800 |
GeneticVariation
|
GWASCAT |
Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.
|
28212542 |
2017 |
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Current study confirms the increased MM risk for R151C carriers.
|
24170137 |
2014 |
|
melanoma
|
|
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 |
|
melanoma
|
|
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 |
|
Hair Color
|
|
0.800 |
GeneticVariation
|
GWASCAT |
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
|
23548203 |
2013 |
|
Hair Color
|
|
0.800 |
GeneticVariation
|
GWASDB |
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
|
23548203 |
2013 |
|
melanoma
|
|
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 |
|
melanoma
|
|
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 |
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Two MC1R germline variants, Arg151Cys and Asp294His, were significantly associated with melanoma in Sardinia.
|
19799798 |
2009 |
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants associated with melanoma and impaired cAMP signalling mediated ERK activation and ERK-dependent, agonist-induced neurite outgrowth comparable with wild-type.
|
19755124 |
2009 |
|
melanoma
|
|
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 |
|
Hair Color
|
|
0.800 |
GeneticVariation
|
GWASDB |
Genetic determinants of hair, eye and skin pigmentation in Europeans.
|
17952075 |
2007 |
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
We found an association of the MC1R D84E and R151C polymorphisms with melanoma (odds ratios for carriage of the rare allele 4.96, 95% CI [1.06-23.13], P = 0.032, and 1.69, 95% CI [1.12-2.55], P = 0.013, respectively).
|
17072629 |
2007 |
|
Hair Color
|
|
0.800 |
GeneticVariation
|
GWASCAT |
Genetic determinants of hair, eye and skin pigmentation in Europeans.
|
17952075 |
2007 |
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Only the Val60Leu, Arg142His, and Arg151Cys variants were significantly associated with melanoma risk.
|
16601669 |
2006 |
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
MC1R gene variants have previously been associated with red hair and fair skin color, moreover skin ultraviolet sensitivity and a strong association with melanoma has been demonstrated for three variant alleles that are active in influencing pigmentation: Arg151Cys, Arg160Trp, and Asp294His.
|
11179997 |
2001 |
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
These findings suggest that the R151C</span> variant may be involve</span>d in melanoma tumorigenesis in a dual manner, both as a determinant of fair skin and as a component in an independent additional pathway.
|
11500806 |
2001 |
|
Carcinoma, Basal Cell
|
|
0.730 |
GeneticVariation
|
BEFREE |
The p.(Arg151Cys) variant in MC1R (rs1805007) was associated with an earlier median age of onset of BCC of 27 years (95% CI: 20-34) compared with 34 years (95% CI: 30-40) for wild-type individuals (hazard ratio (HR)=1.64, 95% CI: 1.04-2.58, P=0.034).
|
25159867 |
2015 |
|
Carcinoma, Basal Cell
|
|
0.730 |
GeneticVariation
|
GWASDB |
A non-synonymous SNP in the MC1R gene (rs1805007 encoding Arg151Cys substitution), a previously well-documented pigmentation gene, showed the strongest association with BCC risk in the discovery set (rs1805007[T]: OR (95% CI) for combined discovery set and replication set [1.55 (1.45-1.66); P= 4.3 × 10(-17)].
|
21700618 |
2011 |
|
Carcinoma, Basal Cell
|
|
0.730 |
GeneticVariation
|
BEFREE |
A non-synonymous SNP in the MC1R gene (rs1805007 encoding Arg151Cys substitution), a previously well-documented pigmentation gene, showed the strongest association with BCC risk in the discovery set (rs1805007[T]: OR (95% CI) for combined discovery set and replication set [1.55 (1.45-1.66); P= 4.3 × 10(-17)].
|
21700618 |
2011 |