Integration of summary data from GWAS and eQTL studies identified novel causal BMD genes with functional predictions

Bone
Xiang-He MengHongwen Deng

Abstract

Osteoporosis is a common global health problem characterized by low bone mineral density (BMD) and increased risk of fracture. Genome-wide association studies (GWAS) have identified >100 genetic loci associated with BMD. However, the functional genes responsible for most associations remain largely unknown. We conducted an innovative summary statistic data-based Mendelian randomization (SMR) analysis to identify novel causal genes associated with BMD and explored their potential functional significance. After quality control of the largest GWAS meta-analysis data of BMD and the largest expression quantitative trait loci (eQTL) meta-analysis data from peripheral blood samples, 5967 genes were tested using the SMR method. Another eQTL data was used to verify the results. Next we performed a fine-mapping association analysis to investigate the functional SNP in the identified loci. Weighted gene co-expression network analysis (WGCNA) was used to explore functional relationships for the identified novel genes with known putative osteoporosis genes. Further, we assessed functions of the identified genes through in vitro cellular study or previous functional studies. We identified two potentially causal genes (ASB16-AS1 and SYN2) ass...Continue Reading

Citations

Jul 2, 2019·Molecular Medicine Reports·Daliang KongFei Wang
Apr 10, 2020·Frontiers in Cell and Developmental Biology·Hui DongHuiying Liu
Dec 4, 2019·Nature Reviews. Endocrinology·Tie-Lin YangHong-Wen Deng
Nov 12, 2019·Frontiers in Genetics·Tianyi ZhaoYadong Wang
Feb 20, 2021·Cardiovascular Drugs and Therapy·Bradley CroneIda Surakka
Feb 23, 2021·Frontiers in Cell and Developmental Biology·Fei ShenBo Xu
May 25, 2021·Frontiers in Cell and Developmental Biology·Jiahui ZhangYang Hu

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