|
rs1805006
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma.
|
8894704 |
1996 |
|
rs1805007
|
|
|
0.800 |
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 |
|
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 |
|
rs1805007
|
|
|
0.800 |
GeneticVariation |
BEFREE |
These findings suggest that the R151C</span> variant may be involve</span>d in melanoma tumorigenesis in a dual manner, both as a determinant of fair skin and as a component in an independent additional pathway.
|
11500806 |
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 |
|
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 |
|
rs1805007
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Only the Val60Leu, Arg142His, and Arg151Cys variants were significantly associated with melanoma risk.
|
16601669 |
2006 |
|
rs1805005
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Only the Val60Leu, Arg142His, and Arg151Cys variants were significantly associated with melanoma risk.
|
16601669 |
2006 |
|
rs11547464
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Only the Val60Leu, Arg142His, and Arg151Cys variants were significantly associated with melanoma risk.
|
16601669 |
2006 |
|
rs1805007
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We found an association of the MC1R D84E and R151C polymorphisms with melanoma (odds ratios for carriage of the rare allele 4.96, 95% CI [1.06-23.13], P = 0.032, and 1.69, 95% CI [1.12-2.55], P = 0.013, respectively).
|
17072629 |
2007 |
|
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 |
|
rs1805008
|
|
|
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 |
|
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 |
|
rs1805007
|
|
|
0.800 |
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 |
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 |
|
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 |
|
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 |
|
rs1805005
|
|
|
0.060 |
GeneticVariation |
BEFREE |
No association with melanoma or phenotype was found for p.V60L and p.V92M variants.
|
18366057 |
2008 |
|
rs2228479
|
|
|
0.040 |
GeneticVariation |
BEFREE |
No association with melanoma or phenotype was found for p.V60L and p.V92M variants.
|
18366057 |
2008 |
|
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 |