rs1805007, known as Arg151Cys or R151C, one of several SNPs in the MC1R gene associated with red hair color (redheads), and in redheaded females, linked to being more responsive to the anesthetics pentazocine, nalbuphine, and butorphanol, often used by dentists [PMID 9571181, PMID 12663858, PMID 18488028]
The risk allele is rs1805007(T), compared with the wild-type rs1805007(C) allele.
The risk allele has also been reported in several studies to be associated with increased risk for melanoma. For example, an odds ratio of 2.94 (CI: 1.04-8.31) has been reported for an Italian population [PMID 16567973], and similarly an odds ratio of 2.9 has been reported for a Polish population [PMID 16988943].
Blog entry about designing melanocortin analogs specific to these genotypes.
See also OMIM 155555.0004
|Trait||Blond vs. brown hair|
|Title||Genetic determinants of hair, eye and skin pigmentation in Europeans|
|Odds Ratio||2.34 [1.69-3.24]|
|Disease||Skin/hair/eye pigmentation 2, Increased analgesia from kappa-opioid receptor agonist, OCULOCUTANEOUS ALBINISM, Parkinson disease|
|CLNDBN||Skin/hair/eye pigmentation 2, red hair/fair skin, Increased analgesia from kappa-opioid receptor agonist, female-specific, OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF, Parkinson disease, late-onset, susceptibility to|
|CLNSRC||OMIM Allelic Variant|
|CLNACC||RCV000015385.24, RCV000015386.20, RCV000015387.24, RCV000015388.1|
[PMID 17999355] A genomewide association study of skin pigmentation in a South Asian population.
[PMID 19884608] Interactive effect of stressful life events and the serotonin transporter 5-HTTLPR genotype on posttraumatic stress disorder diagnosis in 2 independent populations.
[PMID 20042077] Genetic determinants of hair and eye colours in the Scottish and Danish populations.
[PMID 20585627] Web-based, participant-driven studies yield novel genetic associations for common traits.
[PMID 20670983] The Multiple Sclerosis Severity Score: associations with MC1R single nucleotide polymorphisms and host response to ultraviolet radiation.
[PMID 23393597] Replication and Predictive Value of SNPs Associated with Melanoma and Pigmentation Traits in a Southern European Case-Control Study
|Title||Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.|
|Odds Ratio||.16 [0.10-0.22] unit decrease|