Table 4 Top genome-wide significant genes associated with spine BMD in 6,636 adults Chr Gene Start position End position Southern Chinese (n = 778) European (n = 5,858) Meta p Number of SNPs Test statistic Gene-based p Gene-based p Number of SNPs Test statistic Significant gene 6 C6orf97 151856919 151984021 69 46.8 0.734 41 248.9 1.0E−06 1.9E−06 12 ESPL1 51948349 51973694 13 17.2 0.239 13 140.0 selleck inhibitor 3.0E−06 2.3E−06 12 SP7 52006626 52015804 6 6.6 0.309 6 91.6 5.0E−06 4.4E−06 Suggestive gene 12 KPT-8602 concentration C12orf10 51979736 51987232 8 10.4 0.252 8 116.3
8.0E−06 6.4E−06 12 AAAS 51987506 52001679 7 9.5 0.222 8 116.3 9.0E−06 6.7E−06 12 SP1 52060245 52096493 7 5.2 0.414 7 64.8 8.0E−06 8.4E−06 12 PFDN5 51975501 51979501 8 10.4 0.227 8 116.3 1.5E−05 1.1E−05 9 CDK5RAP2 122190967 122382258 35 19.3 0.804 16 99.0 9.0E−06 1.8E−05 6 ESR1 152053323 152466101 132 113.9 0.609 61 234.0 2.7E−05 3.7E−05 12 MFSD5 51932146 51934455 11 14.1 0.271 11 73.1 8.8E−05 7.3E−05 12 RARG 51890619 51912303 12 16.6 0.211 12 71.7 1.2E−04 8.6E−05 20 EIF6 33330138 33336008 14 19.0 0.245 11 66.6 1.6E−04 1.3E−04 Table 5 Top genome-wide significant genes associated with femoral neck BMD in 6,636 selleckchem adults Chr Gene Start position End position Southern Chinese (n = 778) European (n = 5,858) Meta p Number of SNPs Test statistic
Gene-based p Number of SNPs Test statistic Gene-based p Significant gene 11 LRP4 46834993 46896652 10 43.6 0.016 12.000 126.5 4.0E−06 1.2E−06 11 CKAP5 46721659 46824419 13 36.9 0.065 12.000 144.9 1.1E−05 5.2E−06 Suggestive gene 6 C6orf97 151856919 151984021 69 23.9 0.978 41.000 270.1 2.0E−06 8.4E−06 11 F2 46697318 46717632 9 24.8 0.068 7.000 80.7 3.4E−05 1.7E−05 9 FOXE1 99655357 99658818 9 38.0 0.015 9.000 84.7 6.5E−05 2.2E−05 1 LCE2A Tryptophan synthase 150937463 150938542 11 44.4 0.010 6.000 70.9 1.0E−04 3.2E−05 1 KPRP 150997129 151001153 16 18.4 0.329 7.000 85.3 3.6E−05 3.3E−05 1 LCE4A 150948146
150948534 12 37.1 0.023 6.000 79.5 8.9E−05 3.5E−05 20 ADRA1D 4149277 4177659 34 29.8 0.537 23.000 108.7 2.9E−05 3.6E−05 1 LCE2B 150925222 150926500 13 57.9 0.008 8.000 71.0 1.2E−04 3.7E−05 1 LCE2C 150914394 150915673 14 63.8 0.008 8.000 71.0 1.6E−04 5.0E−05 11 C11orf49 46914826 47142507 23 121.2 0.005 20.000 140.1 1.8E−04 5.2E−05 11 ZNF408 46678943 46684037 10 41.8 0.013 9.000 69.9 2.2E−04 7.9E−05 11 ARHGAP1 46655207 46678696 9 37.7 0.012 8.000 57.0 3.1E−04 1.1E−04 Known genes associated with BMD in previous GWAS meta-analysis We have previously identified two genes for spine BMD and two genes for femoral neck BMD through a GWAS meta-analysis approach: SP7 (meta p = 4.4 × 10−6) and C6orf97 (meta p = 7.7 × 10−7) for spine BMD, CKAP5 (meta p = 5.2 × 10−6) and LRP4 (meta p = 1.2 × 10−6) for femoral neck BMD.