Genome-wide identification of m6A-associated SNPs as potential functional variants for bone mineral density

Summary This study investigated the effect of the N 6 -methyladenosine (m 6 A)-associated SNPs on bone mineral density (BMD) and found plenty of m 6 A-SNPs that were associated with BMD. This study increases our understanding on the regulation patterns of SNP and may provide new clues for further detection of functional mechanism underlying the associations between SNPs and osteoporosis. Introduction m 6 A plays critical roles in many fundamental biological processes and a variety of diseases. The m 6 A-associated SNPs may be potential functional variants for BMD. The aim of this study was to investigate the effect of the genome-wide m 6 A-SNPs on BMD. Methods We examined the association of m 6 A-SNPs with femoral neck (FN) and lumbar spine (LS) BMD in 32,961 individuals and quantitative heel ultrasounds (eBMD) in 142,487 individuals. Furthermore, we performed expression quantitative trait locus (eQTL) analyses for the m 6 A-SNPs using whole genome data of about 10.5 million SNPs and 21,323 mRNAs from 43 Chinese individuals, as well as public available data. Differential expression analyses were also performed to support the identified genes. Results We found 138, 125, and 993 m 6 A-SNPs which were associated with FN-BMD, LS-BMD, and eBMD ( P