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Results: 6

1.
Figure 4

Figure 4. From: Genome-wide Association and Follow-Up Replication Studies Identified ADAMTS18 and TGFBR3 as Bone Mass Candidate Genes in Different Ethnic Groups.

Average Raw BMD Values for Groups Stratified by Different Alleles at rs11864477 in ADAMTS18 and at rs17131547 in TGFBR3
Error bars denote standard error.

Dong-Hai Xiong, et al. Am J Hum Genet. 2009 March 13;84(3):388-398.
2.
Figure 1

Figure 1. From: Genome-wide Association and Follow-Up Replication Studies Identified ADAMTS18 and TGFBR3 as Bone Mass Candidate Genes in Different Ethnic Groups.

Genome-wide Association Results for BMD in the White U.S. GWAS Sample
(A) Genome-wide association results for hip BMD in the female sample by the single-SNP approach.
(B) Genome-wide association results for spine BMD in the total sample by the 5-SNP-size sliding-window approach.

Dong-Hai Xiong, et al. Am J Hum Genet. 2009 March 13;84(3):388-398.
3.
Figure 5

Figure 5. From: Genome-wide Association and Follow-Up Replication Studies Identified ADAMTS18 and TGFBR3 as Bone Mass Candidate Genes in Different Ethnic Groups.

Quantile-Quantile Plots for Hip BMD and Spine BMD Associations
(A) Quantile-quantile plots for hip BMD associations in the GWAS female sample.
(B) Quantile-quantile plots for spine BMD associations in the GWAS total sample.
Axes represent the following information: y axis, observed −log10(p) values; x axis, p values expected under the null distribution for the GWAS SNPs.

Dong-Hai Xiong, et al. Am J Hum Genet. 2009 March 13;84(3):388-398.
4.
Figure 2

Figure 2. From: Genome-wide Association and Follow-Up Replication Studies Identified ADAMTS18 and TGFBR3 as Bone Mass Candidate Genes in Different Ethnic Groups.

Association Signals in the ADAMTS18 Gene in 16q23
(A) Genomic locations of chromosome 16q23 genes between 75873929 and 76026512 bp.
(B) The negative log10 p values from the female sample are plotted for genotyped markers in the ADAMTS18 region.
(C) Pairwise r2 plot for the genotype data of ADAMTS18 in this study. The intensity of shading is proportional to r2. The x axis represents physical positions.
(D) Enlarged picture of the significant region in ADAMTS18. The numbers on the x axis are the SNP IDs corresponding to those in Table S1.

Dong-Hai Xiong, et al. Am J Hum Genet. 2009 March 13;84(3):388-398.
5.
Figure 3

Figure 3. From: Genome-wide Association and Follow-Up Replication Studies Identified ADAMTS18 and TGFBR3 as Bone Mass Candidate Genes in Different Ethnic Groups.

Association Signals in the TGFBR3 Gene on the Chromosome Region 1p22
(A) Genomic locations of chromosome 1p22 genes between 91900000 and 92150000 bp.
(B) The negative log10 p values from the total sample are plotted for genotyped markers in the TGFBR3 region.
(C) Pairwise r2 plot for the genotype data of TGFBR3 in this study. The intensity of shading is proportional to r2. The x axis represents physical positions.
(D) Enlarged picture of the significant region in TGFBR3. The numbers on the x axis are the SNP IDs corresponding to those in Table S2.

Dong-Hai Xiong, et al. Am J Hum Genet. 2009 March 13;84(3):388-398.
6.
Figure 6

Figure 6. From: Genome-wide Association and Follow-Up Replication Studies Identified ADAMTS18 and TGFBR3 as Bone Mass Candidate Genes in Different Ethnic Groups.

Electrophoretic Mobility Shift, Supershift, and Competition Assays with E.coli BL21 Nuclear Cell Extract and Allelic Variants of SNP rs16945612 in ADAMTS18
The 25 bp oligonucleotides containing both allelic variants of SNP rs16945612, representing native and mutated TEL-2b binding sites, were assayed with increasing (0–5.7 μg) amounts of nuclear extract of E.coli BL21 cells. Binding was not observed with oligonucleotide containing native allele T (lanes 1–3) but was present with oligonucleotide containing the mutant allele C (lanes 5–11). Binding to the mutant C allele resulted in a complex that was specifically competed by 125 × excess of unlabeled mutant TEL-2b binding-site probe containing the C allele (lane 10) but not by the same amount of unrelated oligonucleotide (lane 11). Rabbit polyclonal antibody against TEL2 (α-TEL2) revealed a much weakened band due to supershifting of the band (lane 8), whereas unrelated serum did not produce the supershift (lane 9).

Dong-Hai Xiong, et al. Am J Hum Genet. 2009 March 13;84(3):388-398.

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