RNA Modification-Related Genetic Variants in Genomic Loci Associated with Bone Mineral Density and Fracture.

ABSTRACT: Genome-wide association studies (GWASs) have identified more than 500 loci for bone mineral density (BMD), but functional variants in these loci are less known. The aim of this study was to identify RNA modification-related SNPs (RNAm-SNPs) for BMD in GWAS loci. We evaluated the association of RNAm-SNPs with quantitative heel ultrasound BMD (eBMD) in 426,824 individuals, femoral neck (FN) and lumbar spine (LS) BMD in 32,961 individuals and fracture in ~1.2 million individuals. Furthermore, we performed functional enrichment, QTL and Mendelian randomization analyses to support the functionality of the identified RNAm-SNPs. We found 300 RNAm-SNPs significantly associated with BMD, including 249 m⁶A-, 28 m¹A-, 3 m⁵C-, 7 m⁷G- and 13 A-to-I-related SN

SUBMITTER: Han L 

PROVIDER: S-EPMC9601451 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature