English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Zendy Plus

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Zendy Tools

Zendy Open

Rosacea is a common, chronic skin disease of variable severity with limited treatment options. The cause of rosacea is unknown, but it is believed to be due to a combination of hereditary and environmental factors. Little is known about the genetics of the disease. We performed a genome-wide association study (GWAS) of rosacea symptom severity with data from 73 265 research participants of European ancestry from the 23andMe customer base. Seven loci had variants associated with rosacea at the genome-wide significance level ( P  &lt;   5 × 10 −8 ). Further analyses highlighted likely gene regions or effector genes including  IRF4  ( P  = 1.5 × 10 −17 ), a human leukocyte antigen (HLA) region flanked by  PSMB9  and  HLA-DMB  ( P  = 2.2 × 10 −15 ),  HERC2-OCA2  ( P  = 4.2 × 10 −12 ),  SLC45A2  ( P  = 1.7 × 10 −10 ),  IL13  ( P  = 2.8 × 10 −9 ), a region flanked by  NRXN3  and  DIO2  ( P  = 4.1 × 10 −9 ), and a region flanked by  OVOL1 and  SNX32  ( P  = 1.2 × 10 −8 ). All associations with rosacea were novel except for the HLA locus. Two of these loci ( HERC-OCA2  and  SLC45A2 ) and another precedented variant (rs1805007 in melanocortin 1 receptor) with an association  P  value just below the significance threshold ( P  = 1.3 × 10 −7 ) have been previously associated with skin phenotypes and pigmentation, two of these loci are linked to immuno-inflammation phenotypes ( IL13  and  PSMB9-HLA-DMA ) and one has been associated with both categories ( IRF4 ). Genes within three loci ( PSMB9-HLA-DMA ,  HERC-OCA2  and  NRX3-DIO2 ) were differentially expressed in a previously published clinical rosacea transcriptomics study that compared lesional to non-lesional samples. The identified loci provide specificity of inflammatory mechanisms in rosacea, and identify potential pathways for therapeutic intervention.

human molecular genetics

Assessment of rosacea symptom severity by genome-wide association study and expression analysis highlights immuno-inflammatory and skin pigmentation genes