Age-Dependent Association between Pulmonary Tuberculosis and Common TOX Variants in the 8q12–13 Linkage Region Audrey V. Grant, Jamila El Baghdadi, Ayoub.

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Age-Dependent Association between Pulmonary Tuberculosis and Common TOX Variants in the 8q12–13 Linkage Region Audrey V. Grant, Jamila El Baghdadi, Ayoub Sabri, Safa El Azbaoui, Kebir Alaoui-Tahiri, Ismail Abderrahmani Rhorfi, Yasser Gharbaoui, Ahmed Abid, Majid Benkirane, Vaomalala Raharimanga, Vincent Richard, Marianna Orlova, Anne Boland, Mélanie Migaud, Satoshi Okada, Daniel K. Nolan, Jacinta Bustamante, Luis B. Barreiro, Erwin Schurr, Stephanie Boisson-Dupuis, Voahangy Rasolofo, Jean- Laurent Casanova, Laurent Abel The American Journal of Human Genetics Volume 92, Issue 3, Pages 407-414 (March 2013) DOI: 10.1016/j.ajhg.2013.01.013 Copyright © 2013 The American Society of Human Genetics Terms and Conditions

Figure 1 Fine-Mapping Association Results for 203 Moroccan Families with at Least One Child with PTB Statistical significance, expressed as the –log10 of the most significant FBAT p value from the additive, dominant, and recessive tests, is shown against the position (in Mb) on chromosome 8 for each of 2,865 quality-control-filtered SNPs. Locations and symbols of genes (from start to stop codons) are shown below the chromosomal-position axis. The statistical-significance threshold for SNP selection for genotyping in the case-control population is indicated by a horizontal black line at p = 0.01. The two SNPs (rs1568952 and rs2726600) found to be significant after replication in the Moroccan case-control study are indicated by arrows. The American Journal of Human Genetics 2013 92, 407-414DOI: (10.1016/j.ajhg.2013.01.013) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

Figure 2 Association between PTB and a Cluster of SNPs in the 3′ Region of TOX (A) Chromosomal location of the SNPs in the 8q region, from 59.496 to 60.032 Mb. NSMAF and TOX are outlined in black, exons are in blue, and the intergenic region is in gray. The direction of transcription is indicated by the “<” sign. Locations of the cluster of seven SNPs (numbered 1–7), including rs1568952 and rs2726600, are indicated by black vertical lines in the magnified region. The location of rs2693453, which was found to be in strong LD with this cluster in the 1000 Genomes Project but was not genotyped in the two study populations, is indicated by a black dashed vertical line. (B) LD patterns for the cluster of seven SNPs genotyped in the Moroccan family-based study (left) and the Madagascan family-based study (right). Pairwise R2 values for all pairs of SNPs are given as percentages, and shading from white to black indicates intensity (R2 ranges from 0 to 1). The two SNPs (rs1568952 and rs2726600) replicated in the Moroccan studies are numbered in red. The American Journal of Human Genetics 2013 92, 407-414DOI: (10.1016/j.ajhg.2013.01.013) Copyright © 2013 The American Society of Human Genetics Terms and Conditions