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Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis
 

Summary: Deletion of the late cornified envelope LCE3B and LCE3C
genes as a susceptibility factor for psoriasis
Rafael de Cid1,15,16, Eva Riveira-Munoz1,16, Patrick L J M Zeeuwen2,16, Jason Robarge3,16, Wilson Liao4,
Emma N Dannhauser5, Emiliano Giardina6, Philip E Stuart7, Rajan Nair7, Cynthia Helms3,
Georgia Escarami´s1, Ester Ballana1, Gemma Marti´n-Ezquerra8, Martin den Heijer9, Marijke Kamsteeg2,
Irma Joosten10, Evan E Eichler11, Conxi La´zaro12, Ramo´n M Pujol8, Llui´s Armengol1, Gonc¸alo Abecasis13,
James T Elder7, Giuseppe Novelli6, John A L Armour5, Pui-Yan Kwok4, Anne Bowcock3, Joost Schalkwijk2 &
Xavier Estivill1,14
Psoriasis is a common inflammatory skin disease with a
prevalence of 2­3% in individuals of European ancestry1.
In a genome-wide search for copy number variants (CNV)
using a sample pooling approach, we have identified a deletion
comprising LCE3B and LCE3C, members of the late cornified
envelope (LCE) gene cluster2. The absence of LCE3B and
LCE3C (LCE3C_LCE3B-del ) is significantly associated
(P ¼ 1.38E­08) with risk of psoriasis in 2,831 samples from
Spain, The Netherlands, Italy and the United States, and
in a family-based study (P ¼ 5.4E­04). LCE3C_LCE3B-del is
tagged by rs4112788 (r2 ¼ 0.93), which is also strongly
associated with psoriasis (P o 6.6E­09). LCE3C_LCE3B-del

  

Source: Abecasis, Goncalo - Department of Biostatistics, University of Michigan

 

Collections: Biology and Medicine; Mathematics