Supplementary Table 2. Genes associated with psoriasis and psoriatic arthritis susceptibility not shared withankylosing spondylitis*
Gene / Chromosome / FunctionIL28RA / 1p36.11 / Interleukin 28 receptor, alpha, plays a critical role in response to microbial challenge and activation of the JAK/STAT signaling system.
PTPN22 / 1p13 / Protein Tyrosine Phosphatase, Nonreceptor-Type 22 a key regulator of T cell receptor signaling
LCE3B /LCE3C (PSORS4) / 1q21.3 / Late Cornified Envelope-3 gene cluster encode stratum corneum proteins. Gene deletions implicated in psoriasis susceptibility in patients of European and Chinese ancestry71,73
REL / 2p13 / V-REL Avian ReticuloendotheliosisViral Oncogene Homolog-transcription factor, a member of the Rel/NFKB family. Also shared with
IF1H / 2q24 / Interferon-Induced Helicase C Domain-Containing Protein 1-A putative RNA helicase that regulates inflammatory signals. Associated with type I diabetes, selected IgA deficiency and Graves’ disease.
IL2/IL21 (PSORS3) / 4q37 / Interleukin 2 and interleukin 21 genes, implicated in PsA susceptibility, important in TH2-associated autoimmunity
IL4/IL13 / 5q31 / Interleukin 4 and Interleukin 13, TH2 cytokines critical in regulating inflammatory and immune responses
TNIP1 / 5q32 / an attenuator of activated ERK2 signaling
HLA-C (PSORS1) / 6p21.3 / The MHC region including HLA-C, a key component of antigen presentation to CD8 positive T cells, MICA, a ligand for NK cell receptor NKG2D, and Corf10, a downstream effector of TNF, and LIRF
TRAF3IP2 / 6q21 / TRAF3-Interacting Protein 2, encodes Act1, essential for IL17-dependent signaling in autoimmune and inflammatory disease74.
TNFAIP3 / 6q23 / TNF-α induced protein 3 inhibits of NFB activation and modulates TLR4
DEFB4 / 8p23.1 / Defensin B4, chemotactic for immature dendritic cells (DCs) and memory T cells promote adaptive immune responses by recruiting DCs and T cells to the site of microbial invasion through interaction with CCR6.
IL23A / 12q13.2 / Interleukin 23-Alpha, the p19 subunit of IL-23, a critical cytokine in the TH17 response
NFKBIA / 14q13 / Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitorNFKB1 or NFKB2 is bound to REL proteins to form the NFKB complex.
NOS2 / 17q11 / Nitric Oxide Synthase2A. NOS2-derived NO is a prerequisite for cytokine signaling and function in innate immunity.
TYK2 / 19p13.2 / Tyrosine kinase 2 plays an indispensable role in controlling responses to multiple cytokines
ADAM33 / 20p13 / A Disintegrin and Metalloproteinase Domain 33membrane-anchored metalloproteases with diverse functions, which include the shedding of cell surface proteins such as cytokines and cytokine receptors.
RNF114 (PSORS12) / 20q13.1 / PSORS 12, ring finger protein 114, abundantly expressed in skin, a paralogue of TRAC-1, an ubiquitin ligase regulating T-cell activation.
*Gene locations and function detailed at Other genes of less clear relevance to psoriasis not shown above include such as Pituitary Tumor-Transforming Gene 1 (PTTG1-5q35.1), Cub And Sushi Multiple Domains 1 (CSMD1-8p23.2), Gap Junction Protein, Beta-2 (GJB2-13q11), Serpin Peptidase Inhibitor, Clade B, Member 8 (SERPINB8) at 18q21.3 and Zinc Finger Protein 816 A (ZNF816A). Also not listed is IL23R (PSORS7), IL12B(PSORS7),CDKAL1
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