A genome‐wide association study in Caucasian women suggests the involvement of HLA genes in the severity of facial solar lentigines |
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| Authors: | Khaled Ezzedine Randa Jdid Lieng Taing Taoufik Labib Cedric Coulonges Damien Ulveling Wassila Carpentier Pilar Galan Serge Hercberg Frederique Morizot Julie Latreille Denis Malvy Erwin Tschachler Jean‐François Zagury |
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| Affiliation: | 1. UMR U557, INSERM/U1125 INRA/CNAM, University Paris 13/Centre de Recherche en Nutrition Humaine Ile‐de‐France, Bobigny, France;2. Department of Dermatology, H?pital Saint‐André, Bordeaux, France;3. Department of Skin Knowledge and Women Beauty, Chanel R&T, Pantin, France;4. équipe Génomique, Bioinformatique et Applications, Chaire de Bioinformatique, Conservatoire National des Arts et Métiers, Paris, France;5. Plate‐forme Post‐Génomique P3S, H?pital Pitié‐Salpêtrière, Paris, France;6. Department of Public Health, H?pital Avicenne, Bobigny, France;7. Department of Internal Medicine and Tropical Diseases, H?pital Saint‐André, Bordeaux, France;8. Department of Dermatology, University of Vienna Medical School, Vienna, AustriaThese authors share an equal contribution to the work.;9. équipe Génomique, Bioinformatique et Applications, Chaire de Bioinformatique, Conservatoire National des Arts et Métiers, Paris, FranceThese authors share an equal contribution to the work. |
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| Abstract: | Solar lentigines are a common feature of sun‐induced skin ageing. Little is known, however, about the genetic factors contributing to their development. In this genome‐wide association study, we aimed to identify genetic loci associated with solar lentigines on the face in 502 middle‐aged French women. Nine SNPs, gathered in two independent blocks on chromosome 6, exhibited a false discovery rate below 25% when looking for associations with the facial lentigine score. The first block, in the 6p22 region, corresponded to intergenic SNPs and also exhibited a significant association with forehead lentigines (P = 1.37 × 10?8). The second block, within the 6p21 HLA region, was associated with decreased HLA‐C expression according to several eQTL databases. Interestingly, these SNPs were also in high linkage disequilibrium with the HLA‐C*0701 allele (r2 = 0.95). We replicated an association recently found by GWAS in the IRF4 gene. Finally, a complementary study on 44 selected candidate SNPs revealed novel associations in the MITF gene. Overall, our results point to several mechanisms involved in the severity of facial lentigines, including HLA/immunity and the melanogenesis pathway. |
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| Keywords: | genome‐wide association study solar lentigines
SNP
skin ageing
HLA
HLA‐C
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