Friday 24 April 2015

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

This must have slipped under my radar earlier in the year but it shows a possible association for melanoma and PD via a common variant. After correcting for multiple comparisons the p-value falls just short of statistical significance... but there is some evidence for association. The epidemiological literature supports an association between melanoma and PD after diagnosis, but not melanoma occurring before PD diagnosis...

Ann Neurol. 2015 May;77(5):889-94. doi: 10.1002/ana.24373. Epub 2015 Mar 13.
Tell-Marti G, Puig-Butille JA, Potrony M, Badenas C, Milà M, Malvehy J, Martí MJ, Ezquerra M, Fernández-Santiago R, Puig S.


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.

An example of melanoma
(image from wikipedia.com)

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