Expressive

rs10512572 - RNU7-155P - MYL6P5

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genomic and proteomic insights into hidradenitis suppurativa. - Journal of the European Academy of Dermatology and Venereology : JEADV (2026) · Argyropoulou M, Stylianakis E, Ricaño-Ponce I, Keur N, Kanni T, Stergianou D, Netea MG, Kumar V, Giamarellos-Bourboulis EJ · PubMed 41793208

    Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease with substantial heritability and clinical heterogeneity. Large-scale genetic studies often lack deep clinical or immunological phenotyping and typically rely on unmatched biobank controls. Our study overcomes this limitation by using carefully matched healthy comparators and integrating genomic, proteomic and pQTL analyses to dissect the molecular underpinnings of HS. To identify genetic variants associated with HS susceptibility using a genome-wide association study (GWAS) in a Greek cohort and to determine whether these variants influence systemic inflammation by integrating blood proteomic profiling and protein quantitative trait locus (pQTL) mapping. A case-control study involving 314 HS patients and 81 age-, sex- an

  • Genetic Variants Associated With Hidradenitis Suppurativa. - JAMA dermatology (2023) · Sun Q, Broadaway KA, Edmiston SN, Fajgenbaum K, Miller-Fleming T, Westerkam LL, Melendez-Gonzalez M, Bui H, Blum FR, Levitt B, Lin L, Hao H, Harris KM, Liu Z, Thomas NE, Cox NJ, Li Y, Mohlke KL, Sayed CJ · PubMed 37494057

    Hidradenitis suppurativa (HS) is a common and severely morbid chronic inflammatory skin disease that is reported to be highly heritable. However, the genetic understanding of HS is insufficient, and limited genome-wide association studies (GWASs) have been performed for HS, which have not identified significant risk loci. To identify genetic variants associated with HS and to shed light on the underlying genes and genetic mechanisms. This genetic association study recruited 753 patients with HS in the HS Program for Research and Care Excellence (HS ProCARE) at the University of North Carolina Department of Dermatology from August 2018 to July 2021. A GWAS was performed for 720 patients (after quality control) with controls from the Add Health study and then meta-analyzed with 2 large bioba

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.