|
rs1805007
|
|
|
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 |
|
rs1805007
|
|
|
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 |
|
rs1805007
|
|
|
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 |
|
rs1805007
|
|
|
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 |
|
rs1805007
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Current study confirms the increased MM risk for R151C carriers.
|
24170137 |
2014 |
|
rs1805007
|
|
|
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 |
|
rs1805008
|
|
|
0.090 |
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 |
|
rs1805008
|
|
|
0.090 |
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 |
|
rs1805008
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The present study aimed to evaluate the distribution of melanocortin 1 receptor gene variants R151C, R160W, and D294H within the Russian population of Eastern Siberia and its association with melanoma development.
|
27755135 |
2018 |
|
rs1805008
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Recently, the p.R160W variant in the melanocortin 1 receptor gene (MC1R, OMIM 155555), a risk factor for MM, has been identified to be associated with PD in Spanish population.
|
26628245 |
2016 |
|
rs1805008
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Six variants, all non-synonymous changes, were individually associated with MM risk (Arg160Trp, Asp294His, Val60Leu, Val92Met, Ile155Thr and Arg163Gln).
|
17434924 |
2007 |
|
rs1805008
|
|
|
0.090 |
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 |
|
rs1805008
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.
|
25631192 |
2015 |
|
rs1805008
|
|
|
0.090 |
GeneticVariation |
BEFREE |
A strong association between CM and red hair was identified for rs1805007, and rs1805008 in the <i>MC1R</i> gene was mainly associated with red hair.
|
31612033 |
2019 |
|
rs1805008
|
|
|
0.090 |
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 |
|
rs1805009
|
|
|
0.070 |
GeneticVariation |
BEFREE |
In addition to age, sex, skin characteristics, and sun exposure, p.R163Q and p.D294H MC1R variants significantly increased KSC risk among melanoma patients.
|
26702765 |
2016 |
|
rs1805009
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Two MC1R germline variants, Arg151Cys and Asp294His, were significantly associated with melanoma in Sardinia.
|
19799798 |
2009 |
|
rs1805009
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The D294H heterozygous variant was observed in 0.3% of individuals in the control group and in 1.1% of the patients in the melanoma group.
|
27755135 |
2018 |
|
rs1805009
|
|
|
0.070 |
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 |
|
rs1805009
|
|
|
0.070 |
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 |
|
rs1805009
|
|
|
0.070 |
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 |
|
rs1805009
|
|
|
0.070 |
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 |
|
rs201326893
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, three Jewish individuals were found to harbor an identical truncating MC1R mutation--Y152X: an Ashkenazi patient with two malignant melanomas, a non-Ashkenazi malignant melanoma patient with familial malignant melanoma and her asymptomatic mother.
|
17496785 |
2007 |
|
rs2228479
|
|
|
0.040 |
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 |
|
rs2228479
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The Val60Leu, Val92Met, and Arg163Gln variant alleles, however, were only weakly or not associated with fair skin type and/or red hair, which further illustrates the finding that skin type, hair color, and melanoma are independent outcomes of the presence of melanocortin 1 receptor gene variants.
|
11511307 |
2001 |