|
rs885479
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The R163Q variant in <i>MC1R</i> may not be a risk factor for melanoma among NM Hispanics.
|
31488411 |
2019 |
|
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 |
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 |
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 |
|
rs885479
|
|
|
0.070 |
GeneticVariation |
BEFREE |
It also supports the association between R163Q variant and MM risk in the population on the Canary Islands, as opposed to reported on northern populations.
|
24170137 |
2014 |
|
rs885479
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.
|
23647022 |
2013 |
|
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 |
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 |
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 |
|
rs885479
|
|
|
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 |
|
rs885479
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Six variants, all non-synonymous changes, were individually associated with MM risk (Arg160Trp, Asp294His, Val60Leu, Val92Met, Ile155Thr and Arg163Gln).
|
17434924 |
2007 |
|
rs885479
|
|
|
0.070 |
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 |
|
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 |
|
rs885479
|
|
|
0.070 |
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 |
|
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 |
|
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 |
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 |
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 |
|
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 |
|
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 |
We also observed reduced historic linkage disequilibrium between the variants V92M and T314T in the gene in German melanoma cases.
|
19585506 |
2009 |
|
rs2228479
|
|
|
0.040 |
GeneticVariation |
BEFREE |
No association with melanoma or phenotype was found for p.V60L and p.V92M variants.
|
18366057 |
2008 |
|
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 |