Sarah E. Medland, Dale R. Nyholt, Jodie N. Painter, Brian P

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Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans Sarah E. Medland, Dale R. Nyholt, Jodie N. Painter, Brian P. McEvoy, Allan F. McRae, Gu Zhu, Scott D. Gordon, Manuel A.R. Ferreira, Margaret J. Wright, Anjali K. Henders, Megan J. Campbell, David L. Duffy, Narelle K. Hansell, Stuart Macgregor, Wendy S. Slutske, Andrew C. Heath, Grant W. Montgomery, Nicholas G. Martin The American Journal of Human Genetics Volume 85, Issue 5, Pages 750-755 (November 2009) DOI: 10.1016/j.ajhg.2009.10.009 Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 1 Genome-wide Association Results (A) Manhattan plot showing the results for the genome-wide meta-analysis of hair morphology across three independent samples. SNPs with a p < 10−5 are highlighted in green. (B) Karyotype of chromosome 1 highlighting the 1q21 region. (C) Regional association and linkage disequilibrium plot for the 1q21 region. The most-associated genotyped SNP is shown in blue, and the color of the remaining markers reflects the linkage disequilibrium (r2) with the top SNP in each panel (increasing red hue associated with increasing r2). The recombination rate (right-hand y axis) is plotted in light blue and is based on the CEU HapMap population. Exons for each gene are represented by vertical bars, based on all isoforms available from the March 2006 UCSC Genome Browser assembly. (D) Minor allele frequency for the TCHH SNP rs11803731, based on the Human Genome Diversity Project.29 (E) Frequency of straight (orange bars), wavy (green bars), and curly (blue bars) hair as a function of the rs11803731 genotype in a sample of unrelated individuals (n[AA] = 43; n[AT] = 493; n[TT] = 1132). With more T alleles, the proportion of straight hair increases. Vertical bars correspond to the 95% confidence intervals on the prevalence. The American Journal of Human Genetics 2009 85, 750-755DOI: (10.1016/j.ajhg.2009.10.009) Copyright © 2009 The American Society of Human Genetics Terms and Conditions