Replication study of candidate genes/loci associated with osteoporosis based on genome-wide screening
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Osteoporosis is a major public health problem characterized by low bone mineral density (BMD). This replication study confirmed 38 single-nucleotide polymorphisms (SNPs) out of 139 SNPs previously reported in three recent genome-wide association studies (GWASs) in an independent US white sample. Ten SNPs achieved combined p < 3.6 × 10−4.
BMD is under strong genetic control. This study aims to verify the potential associations between BMD and candidate genes/loci reported by GWAS of FHS100K, Icelandic deCODE, and UK-NL.
Eight promising (at the genome-wide significant level after Bonferroni correction) and 131 available sub-promising (at the most stringent p value, p < 5.5 × 10−5 in the three GWASs reports) SNPs were selected. By using genotypic information from Affymetrix 500 K SNP arrays, we tested their associations with BMD in 1,000 unrelated US whites. Fisher's combined probability method was used to quantify the overall evidence of association. BMD was measured by dual energy X-ray absorptiometry.
Two promising SNPs, rs3762397 and rs3736228, were replicated in the current study with p < 0.05. Besides, 36 sub-promising SNPs were replicated at the same significant level. Ten SNPs achieved significant combined p < 3.6 × 10−4 (0.05/139 SNPs, corrected for multiple testing).
Osteoporosis susceptibility of 38 SNPs was replicated in 1,000 unrelated US whites. This study showed promise for replication of some initial genome-wide association signals.
- Replication study of candidate genes/loci associated with osteoporosis based on genome-wide screening
Volume 21, Issue 5 , pp 785-795
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- Bone mineral density
- Genome-wide association
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- Author Affiliations
- 1. Key Laboratory of Environment and Genes Related to Diseases, Ministry of Education, College of Medicine, Xi’an Jiaotong University, Xi’an, 710061, People’s Republic of China
- 2. Departments of Orthopedic Surgery and Basic Medical Sciences, University of Missouri, Kansas City, MO, 64108, USA
- 3. Key Laboratory of Biomedical Information Engineering, Ministry of Education and Institute of Molecular Genetics, School of Life Science and Technology, Xi’an Jiaotong University, No.28, Xianning West Road, Xi’an, Shaanxi, 710049, People’s Republic of China
- 4. College of Life Sciences and Engineering, Beijing Jiao Tong University, Beijing, 100044, People’s Republic of China