|
rs34090186
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The discrepancies found in this study indicate the variant rs34090186 in the MC1R gene, some variants of which were reported to be related to increased risk of PD and melanoma, may play a risk role in ET, confirming a potential association between ET and PD.
|
30252209 |
2018 |
|
rs374827260
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a new human MC1R variant (D117G) and reported MC1R variant distributions in Hungarian MMs for the first time.
|
24660985 |
2014 |
|
rs371055548
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Statistically significant association with melanoma risk was also observed for the carriers of the variant T-allele of rs3088440 (540 C>T) at the 3' UTR of CDKN2A gene with an OR 1.52 (95% CI 1.14-2.04).
|
23816148 |
2013 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs1805006
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma.
|
8894704 |
1996 |
|
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 |
|
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 |