Expressive

rs117156175 - LINC02138

Magnitude 4.5 · 2 studies on file

Reported associations

  • A large Canadian cohort provides insights into the genetic architecture of human hair colour. - Communications biology (2021) · Lona-Durazo F, Mendes M, Thakur R, Funderburk K, Zhang T, Kovacs MA, Choi J, Brown KM, Parra EJ · PubMed 34737440

    Hair colour is a polygenic phenotype that results from differences in the amount and ratio of melanins located in the hair bulb. Genome-wide association studies (GWAS) have identified many loci involved in the pigmentation pathway affecting hair colour. However, most of the associated loci overlap non-protein coding regions and many of the molecular mechanisms underlying pigmentation variation are still not understood. Here, we conduct GWAS meta-analyses of hair colour in a Canadian cohort of 12,741 individuals of European ancestry. By performing fine-mapping analyses we identify candidate causal variants in pigmentation loci associated with blonde, red and brown hair colour. Additionally, we observe colocalization of several GWAS hits with expression and methylation quantitative trait loc

  • Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure. - Nature communications (2018) · Visconti A, Duffy DL, Liu F, Zhu G, Wu W, Chen Y, Hysi PG, Zeng C, Sanna M, Iles MM, Kanetsky PA, Demenais F, Hamer MA, Uitterlinden AG, Ikram MA, Nijsten T, Martin NG, Kayser M, Spector TD, Han J, Bataille V, Falchi M · PubMed 29739929

    The skin's tendency to sunburn rather than tan is a major risk factor for skin cancer. Here we report a large genome-wide association study of ease of skin tanning in 176,678 subjects of European ancestry. We identify significant association with tanning ability at 20 loci. We confirm previously identified associations at six of these loci, and report 14 novel loci, of which ten have never been associated with pigmentation-related phenotypes. Our results also suggest that variants at the AHR/AGR3 locus, previously associated with cutaneous malignant melanoma the underlying mechanism of which is poorly understood, might act on disease risk through modulation of tanning ability.

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