Melanoma risk associated with MC1R gene variants in Latvia and the functional analysis of rare variants

Aija Ozola, Kristīne Azarjana, Simona Doniņa, Guna Proboka, Ilona Mandrika, Ramona Petrovska, Ingrīda Čēma, Olita Heisele, Ludmila Eņģele, Baiba Štreinerte, Dace Pjanova

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)


To evaluate the association of melanocortin 1 receptor gene (. MC1R) variants with melanoma risk in a Latvian population, the MC1R gene was sequenced in 200 melanoma patients and 200 control persons. A functional study of previously uncharacterized, rare MC1R variants was also performed. In total, 26 different MC1R variants, including two novel variants Val165Ile and Val188Ile, were detected. The highest risk of melanoma was associated with the Arg151Cys variant (odds ratio (OR) 4.47, 95% confidence interval (CI) 2.19-9.14, P < 0.001). A gene dosage effect was observed, with melanoma risk for carriers of two variants being twice (OR 3.98, 95% CI 2.15-7.38, P < 0.001) that of carriers of one variant (OR 1.98, 95% CI 1.26-3.11, P = 0.003). After stratification according to the pigmentation phenotype, the risk of melanoma remained in groups with otherwise protective phenotypes. Functional analyses of eight previously uncharacterized MC1R variants revealed that a subset of them is functionally relevant. Our results support the contribution of MC1R variants to a genetic predisposition to melanoma in Latvia.

Original languageEnglish
Pages (from-to)81-91
Number of pages11
JournalCancer genetics
Issue number3
Publication statusPublished - Mar 2013


  • Functionality of MC1R variants
  • Melanocortin 1 receptor gene
  • Melanoma
  • Pigmentation
  • Rare MC1R variants

Field of Science*

  • 3.2 Clinical medicine

Publication Type*

  • 1.1. Scientific article indexed in Web of Science and/or Scopus database


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