Haplotype analysis identifies functional elements in monoclonal gammopathy of unknown significance.

ABSTRACT: Genome-wide association studies (GWASs) based on common single nucleotide polymorphisms (SNPs) have identified several loci associated with the risk of monoclonal gammopathy of unknown significance (MGUS), a precursor condition for multiple myeloma (MM). We hypothesized that analyzing haplotypes might be more useful than analyzing individual SNPs, as it could identify functional chromosomal units that collectively contribute to MGUS risk. To test this hypothesis, we used data from our previous GWAS on 992 MGUS cases and 2910 controls from three European populations. We identified 23 haplotypes that were associated with the risk of MGUS at the genome-wide significance level (p < 5 × 10^-8) and showed consistent results among all three populations. In 10 genomic regions, strong pro

SUBMITTER: Thomsen H 

PROVIDER: S-EPMC11335940 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature