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Genome wide association study and meta‐analysis identified multiple new risk loci for freckles in 4813 Chinese individuals.
- Source :
-
Pigment Cell & Melanoma Research . Jul2024, p1. 14p. 7 Illustrations. - Publication Year :
- 2024
-
Abstract
- Freckle is a prevalent pigmentary dermatosis with an obvious hereditary component. Dozens of freckles risk loci have been discovered through research on multiple traits or other diseases, rather than as an independent trait. To discover novel variants associated with freckles, we performed GWAS and meta‐analysis in 4813 Chinese individuals. We conducted GWAS and meta‐analysis of two cohorts: 197 patients and 1603 controls (Cohort I), and 336 patients and 2677 controls (Cohort II), both from China. Then we performed linkage disequilibrium (LD) analysis, eQTL study, and enrichment analysis with association results for functional implications. Finally, we discovered 59 new SNPs and 13 novel susceptibility genes associated with freckles (Pmeta <5 × 10−8), which has enriched the genetic research on freckles. [ABSTRACT FROM AUTHOR]
- Subjects :
- *GENOME-wide association studies
*LOCUS (Genetics)
*LINKAGE disequilibrium
Subjects
Details
- Language :
- English
- ISSN :
- 17551471
- Database :
- Academic Search Index
- Journal :
- Pigment Cell & Melanoma Research
- Publication Type :
- Academic Journal
- Accession number :
- 178273781
- Full Text :
- https://doi.org/10.1111/pcmr.13183