Melanocortin-1 receptor polymorphisms and risk of melanoma: Is the association explained solely by pigmentation phenotype?

American Journal of Human Genetics

Volumn 66, Issue 1, 2000, Pages 176-186

  Palmer, James S ^a,b   Duffy, David L ^b   Box, Neil F ^a   Aitken, Joanne F ^b   O'Gorman, Louise E ^b   Green, Adele C ^b   Hayward, Nicholas K ^b   Martin, Nicholas G ^b   Sturm, Richard A ^a,b  

^a Centre for Cellular and Molecular Biology   (Australia)

^b UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ASPARTIC ACID; CYSTEINE; GLUTAMIC ACID; HISTIDINE; LEUCINE; MELANOCORTIN RECEPTOR; TRYPTOPHAN; VALINE;

ADULT; ARTICLE; AUSTRALIA; CANCER RISK; CAUCASIAN; CONTROLLED STUDY; EYE COLOR; FAMILY HISTORY; FEMALE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HAIR COLOR; HUMAN; LENTIGO; MAJOR CLINICAL STUDY; MALE; MELANOMA; NEVUS; PHENOTYPE; PIGMENTATION; PRIORITY JOURNAL; RISK FACTOR; SKIN COLOR;

EID: 0033910271     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302711     Document Type: Article

References (45)

1. Aitken JF, Duffy DL, Green A, Youl P, MacLennan R, Martin NG (1994) Heterogeneity of melanoma risk in families of melanoma patients. Am J Epidemiol 140:961-973
2. Aitken JF, Green A, MacLennan R, Jackman L, Martin NG (1993) Comparability of surrogate and self-reported information on melanoma risk factors. Br J Cancer 67:1036-1041
3. Aitken JF, Green AC, MacLennan R, Youl P, Martin NG (1996) The Queensland Familial Melanoma Project: study design and characteristics of participants. Melanoma Res 6: 155-165
4. Aitken J, Welch J, Duffy D, Milligan A, Green A, Martin N, Hayward N (1999) CDKN2A variants in a population-based sample of Queensland families with melanoma. J Natl Cancer Inst 91:446-452
5. Balch CM, Houghton AN, Milton GW, Sober AJ, Soong SJ (1992) Cutaneous melanoma. JB Lippincott, Philadelphia
6. Bliss JM, Ford D, Swerdlow AJ, Armstrong BK, Cristofolini M, Elwood JM, Green A, et al (1995) Risk of cutaneous melanoma associated with pigmentation characteristics and freckling: systematic overview of 10 case-control studies. The International Melanoma Analysis Group (IMAGE). Int J Cancer 62:367-376
7. Box NF, Wyeth JR, O'Gorman LE, Martin NG, Sturm RA (1997) Characterization of melanocyte stimulating hormone variant alleles in twins with red hair. Hum Mol Genet 6: 1891-1897
8. Breitbart M, Garbe C, Buttner P, Weis J, Soyer HP, Stocker U, Kruger S, et al (1997) Ultraviolet light exposure, pigmentary traits and the development of melanocytic naevi and cutaneous melanoma. Acta Derm Venereol 77:374-378
9. Coughlin SR (1994) Expanding horizons for receptors coupled to G proteins: diversity and disease. Curr Opin Cell Biol 6: 191-197
10. English DR, Armstrong BK (1994) Melanocytic nevi in children. I. Anatomic sites and demographic and host factors. Am J Epidemiol 139:390-401
11. Frants RR, Van der Velden PA, Bergman W, Gruis NA (1996) Melanocyte-stimulating hormone receptor (MC1R) variants modify melanoma risk in Dutch FAMMM families. Am J Hum Genet Suppl 59:A67
12. Garbe C, Buttner P, Weiss J, Soyer HP, Stocker U, Kruger S, Roser M, et al (1994) Risk factors for developing cutaneous melanoma and criteria for identifying persons at risk: multicenrer case-control study of the Central Malignant Melanoma Registry of the German Dermatological Society. J Invest Dermatol 102:695-699
13. Gilchrest BA, Park HY, Eller MS, Yaar M (1996) Mechanisms of ultraviolet light-induced pigmentation. Photochem Photobiol 63:1-10
14. Grange F, Chompret A, Guilloud BM, Guillaume JC, Margulis A, Prade M, Demenais F, et al (1995) Comparison between familial and nonfamilial melanoma in France. Arch Dermatol 131:1154-1159
15. Green A, Martin NG (1990) Measurement and perception of skin colour in a skin cancer survey. Br J Dermatol 123:77-84
16. Grulich AE, Bataille V, Swerdlow AJ, Newton BJ, Cuzick J, Hersey P, McCarthy WH (1996) Naevi and pigmentary characteristics as risk factors for melanoma in a high-risk population: a case-control study in New South Wales, Australia. Int J Cancer 67:485-491
17. Hayward NK (1996) The current situation with regard to human melanoma and genetic inferences. Curr Opin Oncol 8: 136-142
18. Healy E, Todd C, Jackson IJ, Birch-Machin M, Rees JL (1999) Skin type, melanoma, and melanocortin 1 receptor variants. J Invest Dermatol 112:512-513
19. Heath AC, Bucholz KK, Madden PA, Dinwiddie SH, Slutske WS, Bierut LJ, Statham DJ, et al (1997) Genetic and environmental contributions to alcohol dependence risk in a national twin sample: consistency of findings in women and men. Psychol Med 27:1381-1396
20. Hill HZ, Li W, Xin P, Mitchell DL (1997) Melanin: a two edged sword? Pigment Cell Res 10:158-161
21. Ichii-Jones F, Lear JT, Heagerry AH, Smith AG, Hutchinson PE, Osborne J, Bowers B, et al (1998) Susceptibility to melanoma: influence of skin type and polymorphism in the melanocyte stimulating hormone receptor gene. J Invest Dermatol 111:218-221
22. McGregor B, Pfitzner J, Zhu G, Grace M, Eldridge A, Pearson J, Mayne C, et al (1999) Genetic and environmental contributions to size, color, shape, and other characteristics of melanocytic naevi in a sample of adolescent twins. Genet Epidemiol 16:40-53
23. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
24. Mitchell P, Smith W, Wang JJ (1998) Iris color, skin sun sensitivity, and age-related maculopathy: The Blue Mountains Eye Study. Ophthalmology 105:1359-1363
25. Ott J (1996) ASSOCIATE 2.33 (computer program). Rockefeller University, New York
26. Pawelek JM, Chakraborty AK, Osber MP, Orlow SJ, Min KK, Rosenzweig KE, Bolognia JL (1992) Molecular cascades in UV-induced melanogenesis: a central role for melanotropins? Pigment Cell Res 5:348-356
27. Romero-Graillet C, Aberdam E, Biagoli N, Massabni W, Ortonne JP, Ballotti R (1996) Ultraviolet B radiation acts through the nitric oxide and cGMP signal transduction pathway to stimulate melanogenesis in human melanocytes. J Biol Chem 271:28052-28056
28. SAS Institute (1998) SAS 6.11 (computer program). SAS Institute, Cary, NC
29. Shuber AP, Skoletsky J, Stern R, Handelin BL (1993) Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysis. Hum Mol Genet 2:153-158
30. Slominski A, Paus R, Wortsman J (1993) On the potential role of proopiomelanocortin in skin physiology and pathology. Mol Cell Endocrinol 93:C1-C6
31. Smith R, Healy E, Siddiqui S, Flanagan N, Steijlen PM, Rosdahl I, Jacques JP, et al (1998) Melanocortin 1 receptor variants in an Irish population. J Invest Dermatol 111: 119-122
32. Strange RC, Ichii-Jones F, Lear JT, Hutchinson PE, Fryer AA (1999) Skin type, melanoma, and melanocortin 1 receptor variants. J Invest Dermatol 112:513
33. Sturm RA (1998) Human pigmentation genes and their response to solar UV radiation. Mutat Res 422:69-76
34. Sturm RA, Box NF, Ramsay M (1998) Human pigmentation genetics: the difference is only skin deep. Bioessays 20: 712-721
35. Swerdlow AJ, Green A (1987) Melanocytic naevi and melanoma: an epidemiological perspective. Br J Dermatol 117: 137-146
36. Thomas DG, Gart JJ (1992) Improved and extended exact and asymptotic methods for the combination of 2 × 2 tables. Comput Biomed Res 25:75-84
37. Tilgen W (1993) Melanocyte carcinogenesis: facts and fancies. Recent Results Cancer Res 128:59-67
38. Urabe K, Aroca P, Tsukamoto K, Mascagna D, Palumbo A, Prota G, Hearing VJ (1994) The inherent cytotoxicity of melanin precursors: a revision. Biochim Biophys Acta 1221: 272-278
39. Valverde P, Healy E, Jackson I, Rees JL, Thody AJ (1995) Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nat Genet 11:328-330
40. Valverde P, Healy E, Sikkink S, Haldane F, Thody AJ, Carothers A, Jackson IJ, et al (1996) The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma. Hum Mol Genet 5:1663-1666
41. Vincensi MR, d'Ischia M, Napolitano A, Procaccini EM, Riccio G, Monfrecola G, Santoianni P, et al (1998) Phaeomelanin versus eumelanin as a chemical indicator of ultraviolet sensitivity in fair-skinned subjects at high risk for melanoma: a pilot study. Melanoma Res 8:53-58
42. Weir BS (1996) Genetic data analysis II. Sinauer, New York
43. Whiteman DC, Parsons PG, Green AC (1998) p53 expression and risk factors for cutaneous melanoma: a case-control study. Int J Cancer 77:843-848
44. Wood WI, Gitschier J, Lasky LA, Lawn RM (1985) Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries. Proc Natl Acad Sci USA 82: 1585-1588
45. Zhu G, Duffy DL, Eldridge A, Grace M, Mayne C, O'Gorman L, Aitken JF, et al (1999) A major quantitative-trait locus for mole density is linked to the familial melanoma gene CDKN2A: a maximum-likelihood combined linkage and association analysis in twins and their sibs. Am J Hum Genet 65:483-492