|(C;T)||2.7||Carrier of a red hair associated variant; higher risk of melanoma|
|(T;T)||3.2||increased response to anesthetics; 13-20x higher likelihood of red hair; increased risk of melanoma|
The allele associated with red hair and increased anesthetic response (when homozygous) is rs1805007(T); the wild-type, more common allele is rs1805007(C). Note that in the studies of anesthetic response, having a single rs18050078(T) allele was equivalent to having none, because in both cases, in the absence of mutations elsewhere, the person still has a functioning MC1R receptor.
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]|
|Risk||rs1805007(A;A) rs1805007(G;G) Rs1805007(T;T)|
|Alt||rs1805007(A;A) rs1805007(G;G) Rs1805007(T;T)|
|Disease||Skin/hair/eye pigmentation 2 Increased analgesia from kappa-opioid receptor agonist OCULOCUTANEOUS ALBINISM not specified not provided Malignant Melanoma Susceptibility Cutaneous malignant melanoma 5|
|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 not specified not provided Malignant Melanoma Susceptibility Cutaneous malignant melanoma 5|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
|CLNACC||RCV000015385.27, RCV000015386.22, RCV000015387.27, RCV000242808.1, RCV000255991.2, RCV000395364.1, RCV000472249.1,|
[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|
[PMID 25159867] Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome
[PMID 28081215] Genome-Wide Association Studies of Multiple Keratinocyte Cancers.
[PMID 29054604] Susceptibility loci associated cutaneous squamous cell carcinoma invasiveness.
[PMID 28242083] Association of five SNPs with human hair colour in the Polish population.