Early-onset autoimmune vitiligo associated with an enhancer variant haplotype that upregulates class II HLA expression

Autor: Ying Jin, Genevieve H. L. Roberts, Tracey M. Ferrara, Songtao Ben, Nanja van Geel, Albert Wolkerstorfer, Khaled Ezzedine, Janet Siebert, Charles P. Neff, Brent E. Palmer, Stephanie A. Santorico, Richard A. Spritz

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)

GWAS have led to the identification of 49 genetic loci associated with vitiligo. Here, the authors observe a bimodal distribution of age-of-onset and find a novel genetic locus specifically associated with early-onset vitiligo, located in a regulator

Externí odkaz: https://doaj.org/article/3edf3eefa11e40429926cb0f0aa5c365

Early-onset autoimmune vitiligo associated with an enhancer variant haplotype that upregulates class II HLA expression

Autor: Nanja van Geel, Tracey M. Ferrara, Brent E. Palmer, Stephanie A. Santorico, Albert Wolkerstorfer, Janet C. Siebert, Ying Jin, Richard A. Spritz, Khaled Ezzedine, Songtao Ben, Genevieve H.L. Roberts, Charles Preston Neff

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
NATURE COMMUNICATIONS
Nature Communications
Nature communications, 10(1):391. Nature Publishing Group

Vitiligo is an autoimmune disease in which melanocyte destruction causes skin depigmentation, with 49 loci known from previous GWAS. Aiming to define vitiligo subtypes, we discovered that age-of-onset is bimodal; one-third of cases have early onset (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb00bf6a94912c0925fda98b2e9597c6
https://doaj.org/article/3edf3eefa11e40429926cb0f0aa5c365

Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants

Autor: Mauro Picardo, Richard A. Spritz, Roberta Colucci, J.P. Wietze van der Veen, Iltefat H. Hamzavi, Henry W. Lim, Anthony P. Weetman, Igor V. Korobko, Ele Prans, Pamela R. Fain, Stephanie A. Santorico, Alain Taïeb, Nanja van Geel, Albert Wolkerstorfer, Khaled Ezzedine, Markus Böhm, Rosalie M. Luiten, A. Hartmann, E. Helen Kemp, Janet C. Siebert, Jo Lambert, Silvia Moretti, Genevieve H.L. Andersen, Nanette B. Silverberg, Andreas Overbeck, Qing-Sheng Mi, Tracey M. Ferrara, Külli Kingo, Songtao Ben, Daniel Yorgov, Mats Olsson, Paulene J. Holland, Maire Karelson, Yan Valle, Li Zhou, David J. Gawkrodger, Margaret R. Wallace, Ying Jin, Dorothy C. Bennett, Stanca A. Birlea, Kelly M. Brownson, Sulev Kõks, Wayne T. McCormack, Anne Lienert

Publikováno v: NATURE GENETICS
Nature genetics, 48(11), 1418-1424. Nature Publishing Group
Nature genetics

Vitiligo is an autoimmune disease in which depigmented skin results from destruction of\ud skin melanocytes, with strong epidemiologic association with several other autoimmune\ud diseases. In previous linkage and genome-wide association studies (GWA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf18bdfee0f512b9eaba75c725006ff7
https://doi.org/10.1038/ng.3680

Body size and allometric variation in facial shape in children

Autor: Paula N. Gonzalez, Seth M. Weinberg, Emmanuel Kimwaga, Heather A. Jamniczky, Denise K. Liberton, Campbell Rolian, Jacinda R. Larson, Tracey M. Ferrara, Ophir D. Klein, Mange Manyama, Sheri L. Riccardi, Christopher J. Percival, Ken Lukowiak, Joshua Mathayo, Richard A. Spritz, Joanne B. Cole, Benedikt Hallgrímsson, Jared A. J. Spitzmacher, Charles C. Roseman

Publikováno v: American journal of physical anthropology, vol 165, iss 2

OBJECTIVES Morphological integration, or the tendency for covariation, is commonly seen in complex traits such as the human face. The effects of growth on shape, or allometry, represent a ubiquitous but poorly understood axis of integration. We addre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::271b89a524362a79c5bdb0e38e6f12f5
https://escholarship.org/uc/item/0kn085v0

Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape

Autor: Richard A. Spritz, Ophir D. Klein, Denise K. Liberton, Hong Li, Michaela Prochazkova, Jacinda R. Larson, Emmanuel Kimwaga, Trevor Williams, Tracey M. Ferrara, Kenneth L. Jones, Ken Lukowiak, Sheri L. Riccardi, Joanne B. Cole, Mange Manyama, Stephanie A. Santorico, Washington Mio, Joshua Mathayo, Benedikt Hallgrímsson, Mao Li

Publikováno v: PLoS Genetics, Vol 12, Iss 8, p e1006174 (2016)

The human face is a complex assemblage of highly variable yet clearly heritable anatomic structures that together make each of us unique, distinguishable, and recognizable. Relatively little is known about the genetic underpinnings of normal human fa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b473ca9776c21f60ca17b90d6b118314
http://europepmc.org/articles/PMC4999243?pdf=render