Detangling red hair from pain: phenotype-specific contributions from different genetic variants in melanocortin-1 receptor.

ABSTRACT: Genetic variation in melanocortin-1 receptor (MC1R) has a known role in red hair. Studies on responses to noxious stimuli in red-haired individuals have also been conducted, with mixed findings. To investigate a possible divergence between variants responsible for red hair and pain sensitivity, we performed a genewide association analysis in the Orofacial Pain: Prospective Evaluation and Risk Assessment cohort. All genotyped (17) MC1R variants were tested for association with heat pain temporal summation and sensitivity. Our analyses showed an association for pain sensitivity with the 5'-UTR, tagged by rs3212361, and 1 missense variant, rs885479 (R163Q), previously shown to be weakly associated with red hair. For both variants, the minor allele was protective. These results were validated

SUBMITTER: Zorina-Lichtenwalter K 

PROVIDER: S-EPMC7202363 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature