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Pigmentation-Independent Susceptibility Loci for Actinic Keratosis Highlighted by Compound Heterozygosity Analysis  Kaiyin Zhong, Joris A.C. Verkouteren,

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Presentation on theme: "Pigmentation-Independent Susceptibility Loci for Actinic Keratosis Highlighted by Compound Heterozygosity Analysis  Kaiyin Zhong, Joris A.C. Verkouteren,"— Presentation transcript:

1 Pigmentation-Independent Susceptibility Loci for Actinic Keratosis Highlighted by Compound Heterozygosity Analysis  Kaiyin Zhong, Joris A.C. Verkouteren, Leonie C. Jacobs, Andre G. Uitterlinden, Albert Hofman, Fan Liu, Tamar Nijsten, Manfred Kayser  Journal of Investigative Dermatology  Volume 137, Issue 1, Pages (January 2017) DOI: /j.jid Copyright © 2016 The Authors Terms and Conditions

2 Figure 1 GCDH Manhattan plot. GCDH GWAS results are presented as contrast Manhattan plot. All SNPs are represented by dots and displayed per chromosome (x-axis). GCDH-based GWAS results are depicted in green and pink, while outcomes from conventional single SNP GWAS are in blue and purple. The horizontal line indicates threshold of GCDH genome-wide significance, set at 1.25×10-10, and the dashed line indicates the conventional GWAS genome-wide significance threshold 5×10-8. The three replicated loci are annotated in purple. GCDH, generalized collapsed double heterozygosity; GWA, genome-wide association; SNP, single-nucleotide polymorphism. Journal of Investigative Dermatology  , 77-84DOI: ( /j.jid ) Copyright © 2016 The Authors Terms and Conditions

3 Figure 2 Regional GCDH. Top SNP pair in (a–c) three replicated loci and (d) the SLC24A4 locus is annotated with corresponding p-value. Dashed arrow points to the position of the second SNP in the pair. Blue curve represents recombination rate, and LD patterns of all SNPs with the first SNP of the pair are graded by color. Chr, chromosome; GCDH, generalized collapsed double heterozygosity; LD, linkage disequilibrium; SNP, single-nucleotide polymorphism. Journal of Investigative Dermatology  , 77-84DOI: ( /j.jid ) Copyright © 2016 The Authors Terms and Conditions

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