|
rs2228479
|
|
|
0.040 |
GeneticVariation |
BEFREE |
No association with melanoma or phenotype was found for p.V60L and p.V92M variants.
|
18366057 |
2008 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
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 |
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 |
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 |
|
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 |