Elke Rodríguez

Oct 26, 2023 | nature.com | Elke Rodríguez |Andrew Lawson |Federico Abascal |Philip Jones |Iñigo Martincorena |Peter Campbell

AbstractSomatic mutations are hypothesized to play a role in many non-neoplastic diseases. We performed whole-exome sequencing of 1,182 microbiopsies dissected from lesional and nonlesional epidermis from 111 patients with psoriasis to search for evidence that somatic mutations in keratinocytes may influence the disease process. Lesional skin remained highly polyclonal, showing no evidence of large-scale spread of clones carrying potentially pathogenic mutations.

Oct 4, 2023 | nature.com | Ashley Budu-Aggrey |Anna Kilanowski |Maria K Sobczyk |Suyash Shringarpure |Ruth E. Mitchell |Kadri Reis | +68 more

AbstractAtopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies (GWAS) have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date (discovery N = 1,086,394, replication N = 3,604,027), combining previously reported cohorts with additional available data.