|
rs1805008
|
|
melanoma
|
|
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
|
|
melanoma
|
|
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
|
|
melanoma
|
|
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
|
|
melanoma
|
|
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
|
|
melanoma
|
|
0.090 |
GeneticVariation
|
BEFREE |
The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.
|
25631192 |
2015 |
|
rs1805008
|
|
melanoma
|
|
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
|
|
melanoma
|
|
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 |
|
rs1805008
|
|
melanoma
|
|
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
|
|
melanoma
|
|
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 |