|(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|
|?||(C;C) (C;T) (T;T)||28|
rs1805007, known as Arg151Cys or R151C, one of several SNPs in the MC1R gene associated with red hair color (redheads), and in redheaded females.
rs1805007 has been linked to being more responsive to the analgesics pentazocine, nalbuphine, and butorphanol, often used by dentists [PMID 9571181, PMID 12663858, PMID 18488028]. However, redheads carrying this mutation have also demonstrated decreased responsiveness to the inhaled general anesthesia desflurane [PMID 15277908].
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 rs1805007(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]|
[PMID 21700618] Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma
|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.