From SNPedia
| Geno
|
Mag
|
Summary
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| (A;A)
|
0
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normal
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| (A;G)
|
|
2-4x higher risk of sun sensitivity if part of risk haplotype
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| (G;G)
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2
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2-4x higher risk of sun sensitivity if part of risk haplotype
|
| ? | (A;A) (A;G) (G;G) | 28 |
|---|
 |
is a SNP near the
ASIP (agouti signaling protein) gene on chromosome 20.
This SNP is one of a tightly-linked pair that increases the likelihood of an individual being prone to sun sensitivity, in other words, freckles and sunburn, based on a study of 6,000+ Caucasians (5,000+ Icelanders + 1,000+ Dutch). The odds ratios, presumably on a dominant basis, and at least in the largest population (Icelanders) for "freckles and burns vs. no freckles and tans" for the haplotype pair rs1015362(G) - rs4911414(T) is 3.91 (CI: 2.54-6.03) for males and 2.42 (CI: 1.52-3.86) for females, with an overall p=0.051.[PMID 18488028]
Based on a study by the same authors of 4,000+ skin cancer patients, this haplotype was seen to confer significant increased risk for cutaneous malignant melanoma (odds ratio 1.45, p = 1.2 x 10-9) as well as basal cell carcinoma (odds ratio 1.33, p = 1.2 x 10-6).[PMID 18488027]
[PMID 19384953] Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians
| OMIM | 612263 |
| Desc | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7; CMM7 |
| Variant | |
| Related | also |
| OMIM | 611742 |
| Desc | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9; SHEP9 |
| Variant | |
| Related | also |
| PharmGKB | PA162356580 |
| Name | |
| Annotation | GWAS Results: Two newly identified genetic determinants of pigmentation in Europeans (Initial Sample Size: 5,130 individuals; Replication Sample Size: 3,330 individuals; Risk Allele: rs1015362-G + rs4911414-T). This variant is associated with Burning and freckling. |
| Gene | - |
| Featue | |
| Evidence | PubMed ID:18488028; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | Skin Abnormalities, Skin Diseases |
| Curation Level | Non-Curated |
Influences appearance gnxp
| PharmGKB | PA162355808 |
| Name | |
| Annotation | This variant is associated with the risk of cutaneous melanoma and basal cell carcinoma. It is also strongly associated with pigmentation, freckling and skin sensitivity to sun. |
| Gene | - |
| Featue | |
| Evidence | PubMed ID:18488027 |
| Drugs | |
| Diseases | Carcinoma, Basal Cell, Melanoma |
| Curation Level | Curated |
| PharmGKB | PA162356582 |
| Name | |
| Annotation | GWAS Results: Two newly identified genetic determinants of pigmentation in Europeans (Initial Sample Size: 5,130 individuals; Replication Sample Size: 3,330 individuals; Risk Allele: rs1015362-G + rs4911414-T). This variant is associated with Skin sensitivity to sun; freckles and red vs. non-red hair. |
| Gene | - |
| Featue | |
| Evidence | PubMed ID:18488028; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | Skin Abnormalities, Skin Diseases |
| Curation Level | Non-Curated |
[PMID 21221757] ASIP genetic variants and the number of non-melanoma skin cancers
