title: EDNRB gene variants and melanoma risk in two southern European populations.
abstract: BACKGROUND
  EDNRB gene variants were reported to be associated with melanoma risk in French patients, with the S305N variant showing the highest frequency.
  
  
  OBJECTIVE
  To verify the S305N association with melanoma risk in an independent larger French population (378 patients, 389 controls); to investigate the role of EDNRB variants in melanoma risk in an Italian population (133 patients, 118 controls); and to explore the association of CDKN2A or CDK4 mutations with the S305N EDNRB variant in a subgroup of patients (59 French, 12 Italian) with a suspected hereditary predisposition to melanoma (familial melanoma, sporadic multiple primary melanoma or melanoma associated with pancreatic cancer).
  
  
  METHODS
  The S305N variant was genotyped in the French population, while the EDNRB gene in the Italian population was entirely sequenced.
  
  
  RESULTS
  Overall, there was no significant difference in the frequency of the S305N variant between patients with sporadic melanoma and controls in either the French or the Italian population. However, a significantly higher S305N allele frequency was detected in French patients with a suspected hereditary predisposition to melanoma compared with controls (P = 0.04). In addition, in this subgroup of patients, the S305N allele was also significantly associated with the presence of CDKN2A mutations (P = 0.04).
  
  
  CONCLUSIONS
  Our results showed no evidence of association of the S305N EDNRB polymorphism with sporadic melanoma risk in either the French or Italian populations, but there was an indication that EDNRB might be a melanoma-predisposing gene in French patients with a suspected hereditary predisposition to melanoma.
authors.affiliation: Department of Dermatology, University of L'Aquila, L'Aquila, Italy.
authors.forename: T
authors.initials: T
authors.lastname: Spica
authors.forename: M C
authors.initials: MC
authors.lastname: Fargnoli
authors.forename: G
authors.initials: G
authors.lastname: Hetet
authors.forename: G
authors.initials: G
authors.lastname: Bertrand
authors.forename: F
authors.initials: F
authors.lastname: Formicone
authors.forename: V
authors.initials: V
authors.lastname: Descamps
authors.forename: P
authors.initials: P
authors.lastname: Wolkenstein
authors.forename: N
authors.initials: N
authors.lastname: Dupin
authors.forename: C
authors.initials: C
authors.lastname: Lebbe
authors.forename: N
authors.initials: N
authors.lastname: Basset-Seguin
authors.forename: P
authors.initials: P
authors.lastname: Saiag
authors.forename: F
authors.initials: F
authors.lastname: Cambien
authors.forename: B
authors.initials: B
authors.lastname: Grandchamp
authors.forename: K
authors.initials: K
authors.lastname: Peris
authors.forename: N
authors.initials: N
authors.lastname: Soufir
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D005602:France; D005787:Gene Frequency; D019942:Genes, p16; D020022:Genetic Predisposition to Disease; D006801:Humans; D007558:Italy; D008297:Male; D008545:Melanoma / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D044023:Receptor, Endothelin B / Q000235:genetics*; D017422:Sequence Analysis, DNA; D012878:Skin Neoplasms / Q000235:genetics*; D055815:Young Adult
chemical_list: D044023:Receptor, Endothelin B