Follow-up to genome-wide linkage and admixture mapping studies implicates components of the extracellular matrix in susceptibility to and size of uterine.

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Presentation transcript:

Follow-up to genome-wide linkage and admixture mapping studies implicates components of the extracellular matrix in susceptibility to and size of uterine fibroids Brahim Aissani, Ph.D., Kui Zhang, Ph.D., Howard Wiener, Ph.D. Fertility and Sterility Volume 103, Issue 2, Pages 528-534.e13 (February 2015) DOI: 10.1016/j.fertnstert.2014.10.025 Copyright © 2015 The Authors Terms and Conditions

Supplemental Figure 1 Quantile-quantile plots of the test statistic P value obtained using MALD and non-MALD SNPs in the NIEHS-UFS. MALD SNPs are a set of random SNPs within and outside candidate chromosomal regions identified in independent and published linkage and admixture studies. Non-MALD SNPs are positional SNPs selected from positional candidate genes with regulated expression in uterine fibroids. Race-stratified plots are shown separately for MALD and non-MALD SNPs for risk and for tumor size outcomes. Fertility and Sterility 2015 103, 528-534.e13DOI: (10.1016/j.fertnstert.2014.10.025) Copyright © 2015 The Authors Terms and Conditions

Supplemental Figure 2 See Supplemental Figure 1 caption. Fertility and Sterility 2015 103, 528-534.e13DOI: (10.1016/j.fertnstert.2014.10.025) Copyright © 2015 The Authors Terms and Conditions

Supplemental Figure 3 See Supplemental Figure 1 caption. Fertility and Sterility 2015 103, 528-534.e13DOI: (10.1016/j.fertnstert.2014.10.025) Copyright © 2015 The Authors Terms and Conditions

Supplemental Figure 4 See Supplemental Figure 1 caption. Fertility and Sterility 2015 103, 528-534.e13DOI: (10.1016/j.fertnstert.2014.10.025) Copyright © 2015 The Authors Terms and Conditions

Supplemental Figure 5 See Supplemental Figure 1 caption. Fertility and Sterility 2015 103, 528-534.e13DOI: (10.1016/j.fertnstert.2014.10.025) Copyright © 2015 The Authors Terms and Conditions

Supplemental Figure 6 See Supplemental Figure 1 caption. Fertility and Sterility 2015 103, 528-534.e13DOI: (10.1016/j.fertnstert.2014.10.025) Copyright © 2015 The Authors Terms and Conditions

Supplemental Figure 7 See Supplemental Figure 1 caption. Fertility and Sterility 2015 103, 528-534.e13DOI: (10.1016/j.fertnstert.2014.10.025) Copyright © 2015 The Authors Terms and Conditions

Supplemental Figure 8 See Supplemental Figure 1 caption. Fertility and Sterility 2015 103, 528-534.e13DOI: (10.1016/j.fertnstert.2014.10.025) Copyright © 2015 The Authors Terms and Conditions

Supplemental Figure 9 Follow-up fine mapping of candidate chromosomal regions for the risk of uterine fibroids in the NIEHS study using selected SNPs. Manhattan plot showing the statistical significance (expressed as minus logarithm of P values) of the association of tagging SNPs with the risk of uterine fibroids (case and control study). The figure displays the results for tagging SNPs selected from positional (circles) and nonpositional (squares) candidate genes with differential expression in fibroids and matched myometria (P<.01). Filled and empty symbols indicate data obtained with the AA and the EA study populations, respectively. Note that chromosomes are separated by vertical lines, and the location of the SNPs is drawn to the chromosome scales, with the axis labels for the chromosome number shown in centromeric positions separating chromosome p and q arms. Fertility and Sterility 2015 103, 528-534.e13DOI: (10.1016/j.fertnstert.2014.10.025) Copyright © 2015 The Authors Terms and Conditions

Supplemental Figure 10 Follow-up fine mapping of candidate chromosomal regions for the risk of uterine fibroids in the NIEHS study using random SNPs. Manhattan plot showing the statistical significance (expressed as minus logarithm of P values) for the associations between selected SNPs with the risk of uterine fibroids (case and control study). The figure displays the results for a random set of MALD SNPs spanning candidate chromosomal regions (circles) or random genomic regions (squares). Filled and empty symbols indicate data obtained with the AA and EA study populations, respectively. Note that chromosomes are separated by vertical lines, and the location of the SNPs is drawn to the chromosome scale, with the axis label for the chromosome number shown in the centromeric positions separating chromosome p and q arms. Fertility and Sterility 2015 103, 528-534.e13DOI: (10.1016/j.fertnstert.2014.10.025) Copyright © 2015 The Authors Terms and Conditions

Supplemental Figure 11 Follow-up fine mapping of candidate chromosomal regions for the growth of uterine fibroids in the NIEHS study using selected SNPs. Manhattan plot showing the statistical significance (expressed as minus logarithm of P values) for the association of selected SNPs with the size of uterine fibroids (polytomous outcome: none, small, medium, and large fibroids). The figure displays the results for tagging SNPs selected from positional (circles) and nonpositional (squares) candidate genes with differential expression in fibroids and matched myometria (P<.01). Filled and empty symbols indicate data obtained with the AA and EA study populations, respectively. Note that chromosomes are separated by vertical lines, and the location of the SNPs is drawn to the chromosome scale, with the axis label for the chromosome number shown in the centromeric positions separating chromosome p and q arms. Fertility and Sterility 2015 103, 528-534.e13DOI: (10.1016/j.fertnstert.2014.10.025) Copyright © 2015 The Authors Terms and Conditions

Supplemental Figure 12 Follow-up fine mapping of candidate chromosomal regions for the growth of uterine fibroids in the NIEHS study using random SNPs. Manhattan plots showing the statistical significance of the tests of association (expressed as minus logarithm of P values) of selected SNPs with the size of uterine fibroids (polytomous outcome: none, small, medium, and large fibroids). The figure shows the association results for a random set of MALD SNPs spanning candidate chromosomal regions (circles) or random genomic regions (squares). Filled and empty symbols indicate data obtained with the AA and EA study populations, respectively. Note that chromosomes are separated by vertical lines, and the location of the SNPs is drawn to the chromosome scale, with the axis labels for the chromosome number shown in the centromeric positions separating chromosome p and q arms. Fertility and Sterility 2015 103, 528-534.e13DOI: (10.1016/j.fertnstert.2014.10.025) Copyright © 2015 The Authors Terms and Conditions