rs6058017

This is a regulatory region variant variant in the AHCY gene.

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ClinVar annotation

Association
1 submitter2 publications

SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR (SHEP9)

View on ClinVar →
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Research that mentions this SNP (2)

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Model-based prediction of human hair color using DNA variants
AssociationN=385Wojciech Branicki et al.(2011)· Human Genetics

This study demonstrates that human hair color can be predicted from DNA variants with high accuracy using a multinomial logistic regression model. A subset of 13 genetic markers from 11 genes (MC1R, HERC2, IRF4, TYR, EXOC2, SLC45A2, TYRP1, OCA2, SLC24A4, KITLG, ASIP) predicted hair color categories in Polish Europeans with AUC values of 0.93 for red hair, 0.87 for black hair, 0.82 for brown hair, and 0.81 for blond hair. MC1R variants showed the strongest association with red hair (OR=12.64 for R variants, P=2.5×10⁻¹⁷), while rs12913832 in HERC2 was significantly associated with darker hair colors (OR=3.33 for black, P=4.3×10⁻⁶).

Traits studied:Auburn hairBlack hairBlond hairBlond-red hairBrown hairDark-blond hairHair colorRed hair
PubMedDOIMetascience Observatory
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Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians
AssociationN=1,673Hongmei Nan et al.(2009)· International Journal of Cancer

Nested case-control study of 1,673 Caucasian women examining 15 SNPs in pigmentation genes. TYR Arg402Gln (rs1126809) and SLC45A2 Phe374Leu (rs16891982) were significantly associated with skin color and tanning ability. ASIP haplotype (rs4911414[T], rs1015362[G]) increased melanoma risk (OR 1.68) and SCC risk (OR 1.54), while TYRP1 rs1408799 and SLC45A2 -1721 C>G (rs13289) showed protective effects against melanoma (OR 0.77, 0.75 respectively). No associations remained significant after Bonferroni correction.

Traits studied:Basal cell carcinomaHair colorMelanomaSkin colorSquamous cell carcinomaTanning ability
PubMedDOIMetascience Observatory

About AHCY

S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]

View all AHCY variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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