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. 2015 May;77(5):889-94.
doi: 10.1002/ana.24373. Epub 2015 Mar 13.

The MC1R melanoma risk variant p.R160W is associated with Parkinson disease

Gemma Tell-Marti  1 , Joan Anton Puig-Butille, Miriam Potrony, Celia Badenas, Montserrat Milà, Josep Malvehy, María José Martí, Mario Ezquerra, Rubén Fernández-Santiago, Susana Puig
Affiliations

The MC1R melanoma risk variant p.R160W is associated with Parkinson disease

Gemma Tell-Marti et al. Ann Neurol. 2015 May.

Abstract

Epidemiological studies have reported the co-occurrence of Parkinson disease (PD) and melanoma. Common genetic variants in the MC1R (melanocortin 1 receptor) gene, which determines skin and hair color, are associated with melanoma. Here we investigated whether genetic variants in MC1R modulate the risk of PD by sequencing the entire gene in 870 PD patients and 736 controls ascertained from Spain. We found that the MC1R variant p.R160W (rs1805008) is marginally associated with PD (odds ratio = 2.10, gender- and age-adjusted p = 0.009, Bonferroni-corrected p = 0.063). Our results suggest that MC1R genetic variants modulate the risk of PD disease in the Spanish population.

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Comment in

  • Nonsynonymous variants in MC1R are rare in Chinese Parkinson disease cases.
    Foo JN, Zhao Y, Liu J, Tan EK. Foo JN, et al. Ann Neurol. 2015 Jul;78(1):152-3. doi: 10.1002/ana.24419. Epub 2015 May 25. Ann Neurol. 2015. PMID: 25894970 No abstract available.
  • Reply: To PMID 25631192.
    Tell-Martí G, Puig-Butille JA, Potrony M, Badenas C, Milà M, Malvehy J, Martí MJ, Ezquerra M, Fernández-Santiago R, Puig S. Tell-Martí G, et al. Ann Neurol. 2015 Jul;78(1):153-4. doi: 10.1002/ana.24418. Epub 2015 May 25. Ann Neurol. 2015. PMID: 25913870 No abstract available.
  • Reply.
    Tell-Martí G, Puig-Butille JA, Potrony M, Badenas C, Milà M, Malvehy J, Martí MJ, Ezquerra M, Fernández-Santiago R, Puig S. Tell-Martí G, et al. Ann Neurol. 2016 Jan;79(1):161-3. doi: 10.1002/ana.24526. Epub 2015 Dec 12. Ann Neurol. 2016. PMID: 26389780 No abstract available.
  • Is the MC1R variant p.R160W associated with Parkinson's?
    Lubbe SJ, Escott-Price V, Brice A, Gasser T, Hardy J, Heutink P, Sharma M, Wood NW, Nalls M, Singleton AB, Williams NM, Morris HR; International Parkinson's Disease Genomics Consortium. Lubbe SJ, et al. Ann Neurol. 2016 Jan;79(1):159-61. doi: 10.1002/ana.24527. Epub 2015 Dec 12. Ann Neurol. 2016. PMID: 26389967 Free PMC article. No abstract available.
  • Rare variants in MC1R/TUBB3 exon 1 are not associated with Parkinson's disease.
    Lorenzo-Betancor O, Wszolek ZK, Ross OA. Lorenzo-Betancor O, et al. Ann Neurol. 2016 Feb;79(2):331. doi: 10.1002/ana.24581. Epub 2016 Jan 19. Ann Neurol. 2016. PMID: 26677074 Free PMC article. No abstract available.

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