|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |