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. 2017 Nov 16;130(20):2229-2232.
doi: 10.1182/blood-2017-08-800565. Epub 2017 Sep 21.

A genome-wide association study of LCH identifies a variant in SMAD6 associated with susceptibility

Erin C Peckham-Gregory  1   2 , Rikhia Chakraborty  1   2 , Michael E Scheurer  1   2 , John W Belmont  3   4 , Harshal Abhyankar  1 , Amel G Sengal  1 , Brooks P Scull  1 , Olive Eckstein  1 , Daniel J Zinn  1 , Louisa Mayer  1   2 , Albert Shih  1 , Miriam Merad  5 , D Williams Parsons  1   2   3 , Kenneth L McClain  1   2 , Philip J Lupo  1   2 , Carl E Allen  1   2
Affiliations

A genome-wide association study of LCH identifies a variant in SMAD6 associated with susceptibility

Erin C Peckham-Gregory et al. Blood. .
No abstract available

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Figures

Figure 1.
Figure 1.
Regional association plot highlighting the genomic region of the locus selected from discovery GWAS for replication. Recombination rate and linkage disequilibrium with SMAD6 rs12438941 (red diamond) shown for chromosome 15 using SNP Annotation and Proxy Search. Case-parent trio GWAS results were used to derive the P values used to create the figure. Each square represents a specific SNP in the genomic region, and the color of the filled squares depicts the r2 between that SNP and the most strongly associated SNP in our study population; the more highly correlated a SNP is with our locus of interest, the redder the box coloration. The blue lines indicate the recombination rate of this genomic region in the 1000 Genomes CEU (Northern Europeans from Utah) population.
See this image and copyright information in PMC

References

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