Uncovering Genetic Variation in Systemic Lupus Erythematosus Risk Variants in Indigenous Peruvians.

ABSTRACT:

Objective

Systemic lupus erythematosus (SLE) results in worse clinical outcomes among individuals of Amerindian descent. The genetic basis for this is uncertain, and there is a significant lack of genetic research focused on Amerindian ancestry populations. This study aims to compare the frequencies of SLE risk variants and polygenic risk scores between Indigenous Peruvians and global populations with diverse ancestral backgrounds.

Methods

We studied 670 individuals from the Peruvian Genome Project, 2,068 individuals from the 1000 Genomes Project Phase 3 release, and 47 patients with SLE from Lima, Peru. Ancestry was inferred using admixture and RFMix. Data were imputed with the TOPMed Imputation server and annotated to hg38. We compared the frequencies of 199 SLE-associated

SUBMITTER: Lanata CM 

PROVIDER: S-EPMC12099220 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature