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. 2013 Aug 28;2013:613086. doi: 10.1155/2013/613086

Table 1.

Single-nucleotide polymorphisms (SNPs) in genes associated with psoriasis.

Gene Role in immune system* SNP MAF** Minor allele Population References
IL23R Encodes a subunit of the receptor required for IL23A signaling. This protein associates constitutively with JAK2 and binds to transcription activator STAT3 rs7530511 0.125 T Caucasian, Japanese, Chinese [33, 34, 36–38, 41]
rs2201841 0.275 C Caucasian [44, 45]
rs11209026 0.067 A Caucasian [2, 33, 34, 36, 37, 41–43]
rs11465817 0.279 A Chinese [39]
rs1343152 0.357 C Chinese [39]
rs2066808 0.092 C Caucasian [44]
IL10 Encodes a cytokine produced by monocytes and lymphocytes that downregulates the expression of Th1 cytokines and blocks NF-κB activity. It enhances B-cell survival, proliferation, and antibody production and regulates the JAK-STAT signaling pathway rs1800896 0.467 A Caucasian, Egyptian [25, 60]
TNFα Encodes a proinflammatory cytokine produced by macrophages. TNFα is implicated in multiple roles such as cell proliferation, differentiation, and apoptosis rs1800629 0.217 A Caucasian, Egyptian, Korean [19–22, 25–29]
rs361525 0.131 A Caucasian [19, 20, 22–24, 26–29]
rs1799724 0.158 A Caucasian [14]#
IL12B IL12B is a cytokine expressed by activated macrophages that serves as an essential inducer of Th1 cell development rs6887695 0.217 T Caucasian, Chinese [33, 36, 37, 39, 41, 42]
rs3212227 0.225 C Caucasian, Japanese, Chinese [33, 36–38, 40–43, 46, 103]
rs2082412 0.225 A Caucasian [44]
rs2546890 0.438 G Caucasian [45]
GBP6 Interferon induces GBP that hydrolyzes GTP to both GDP and GMP rs928655 0.288 G Caucasian [42]
IL6 Encodes a cytokine that induces inflammatory responses through IL6Rα and maturation of B cells rs1800795 0.467 G Egyptian [25]
IL13 Encodes a cytokine produced by activated Th2 that is involved in maturation and differentiation of B cells. IL13 downregulates macrophage activity and inhibits the production of proinflammatory cytokines and chemokines rs20541 0.233 T Caucasian [2, 44, 61]
rs848 0.242 T Caucasian [61]
rs1800925 0.196 T Caucasian [61]
TNFAIP3 TNF induces the expression of TNFAIP3, which inhibits NF-κB activation and TNF-mediated apoptosis. TNFAIP3 is involved in cytokine-mediated immune and inflammatory responses rs610604 0.408 C Caucasian [2, 15, 44]#
rs6920220 0.175 A Caucasian [33, 44, 47]
rs10499194 0.175 T Caucasian [33, 44, 47]
rs5029939 0.042 G Caucasian [44, 47, 48]
rs2230926 0.027 G Caucasian [15]#
TNIP1 Encodes TNFAIP3 interacting protein 1, which plays a role in the regulation of NF-κB activation rs17728338 0.075 A Caucasian [2, 44]
IL1RN IL1RN inhibits IL1 and modulates immune and inflammatory responses rs397211 0.164 G Caucasian [44]
HLA-C HLA class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen rs12191877 0.125 T Caucasian [44, 45, 51]
rs10484554 0.135 T Caucasian, Chinese [2, 42, 104]
rs1265181 0.258 C Chinese [35, 104]
rs3134792 0.111 G Caucasian [105]
NF-κBIA Encodes a member of the NF-κB inhibitor family, which interacts with REL dimers to inhibit NF-κB/REL complexes, which are involved in inflammatory responses rs2145623 0.290 C Caucasian [45]
rs8016947 0.465 T Caucasian [50]
APOE APOE plays a role in the proliferation of T lymphocytes and protects against some infections in patients with psoriasis [73] rs429358 0.078 APOE*4 Caucasian [75]
rs7412 — — Caucasian [75]
VDR Encodes the nuclear hormone receptor for vitamin D3, which regulates immune response pathways rs4516035 0.381 C Caucasian [76]
IFNγ Encodes a soluble cytokine with antiviral, immunoregulatory, and antitumor properties, and it is a potent activator of macrophages rs2430561 — — Caucasian [54]
IL2 Encodes a cytokine that is important for the proliferation of T and B lymphocytes rs2069762 — — Korean [53]
IL4 IL4 is a pleiotropic cytokine involved in the modulation of Th2 immune responses. IL4 receptor also binds to IL13, which may contribute to many overlapping functions of this cytokine and IL13 rs2243250 0.137 T Korean [53]
IL15 Encodes a cytokine that regulates T-cell and natural killer activation and proliferation. IL15 also induces the activation of JAK kinases, as well as the phosphorylation and activation of STAT3, STAT5, and STAT6 rs2857261 0.431 G Chinese [69]
rs10519613 0.102 A Chinese [69]
rs1057972 — — Chinese [69]
TNFRSF1B TNFRSF1B is a TNFα receptor that mediates the recruitment of antiapoptotic proteins rs1061622 0.239 G Caucasian, Japanese [14]#
MCP1 MCP1 encodes a cytokine characterized by two cysteines separated by a single amino acid that displays chemotactic activity for monocytes and basophils rs1024611 0.305 G Caucasian [71]
CTLA4 Encodes a protein which inhibits T cells rs3087243 0.460 A Caucasian [81]##
rs231775 0.389 G Caucasian [81]##
DEFB4 DEFB4 is a member of a family of microbicidal and cytotoxic peptides made by neutrophils rs2740091 — — Caucasian [56]
rs2737532 — — Caucasian [56]
STAT4 In response to cytokines, the STAT proteins are phosphorylated and translocate to the cell nucleus, where they act as transcription activators. STAT transduces IL12, IL23, and IFN type I signals in T lymphocytes and regulates the differentiation of Th cells rs7574865 0.230 T Caucasian [72]
IL18 IL18 stimulates production of IFNγ in Th1 rs187238 — — Japanese [58]
IL19 IL19 is a member of the IL10 cytokine subfamily with a role in inflammatory responses rs2243188 0.230 A Caucasian [64, 68]
rs2243158 0.085 C Caucasian [64]
IL20 Encodes a cytokine structurally related to IL10 and transduces its signal through STAT3 in keratinocytes rs1713239 0.177 G Chinese [65]
rs2981572 — — Caucasian [64, 66, 68]
IL20RA Encodes a receptor for IL20, a cytokine that may be involved in epidermal function rs1342642 0.314 A Caucasian [67]
rs1184860 — — Caucasian [67]
rs1167846 0.246 T Caucasian [67]
rs1167849 0.285 A Caucasian [67]
ERAP1 Encodes an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on HLA class I rs151823 0.093 A Chinese [52]
rs27524 0.332 A Caucasian [50]
IL1B Encodes a cytokine produced by activated macrophages which plays an important role in the inflammatory response rs16944 0.358 A Caucasian [24]
TRAF3IP2 Encodes a protein that interacts with TRAF proteins and plays a central role in innate immunity in response to pathogens, inflammatory signals, and stress rs13210247 0.080 G Caucasian [45, 49]
rs33980500 — — Caucasian [45, 49]
rs13196377 0.053 A Caucasian [49]
rs13190932 0.058 A Caucasian [49]
rs240993 0.250 T Caucasian [50]
IL28RA Encodes a receptor complex that interacts with IL28A, IL28B, and IL29. The expression of these cytokines can be induced by viral infection rs4649203 0.239 G Caucasian [50]
TYK2 Encodes a member of the JAK protein family that promulgate cytokine signals by phosphorylating receptor subunits. TYK2 is a component of IFN I and II signaling pathways and may play a role in antiviral immunity rs12720356 0.124 C Caucasian [50]
IFIH1 Encodes a protein that mediates induction of IFN response to viral RNA [83] rs17716942 0.195 C Caucasian [50]
LCE Encodes a protein that plays a role in skin barrier function [83] rs4085613 0.403 T Caucasian [50]
rs4845454 0.403 C Caucasian [50]
rs1886734 0.407 A Caucasian [50]
rs4112788 0.403 A Caucasian [50]
rs6701216 0.137 T Caucasian [42]
rs4112788 0.417 T Chinese [85]
ZNF313 Encodes a protein that is involved in T-cell activation [83] rs2235617 0.432 G Caucasian [50]
rs495337 0.430 A Caucasian [105]

*Data from NCBI web page [57]; **MAF: minor allele frequency for Caucasian population (data from HapMap web page [106] and Alfred [107]). IL: interleukin; R: receptor; JAK: Janus kinase; STAT: signal transducer and activator of transcription; Th1: type 1 helper T lymphocyte; TNF: tumor necrosis factor; GBP: guanylate-binding protein; GTP: guanosine triphosphate; GDP: guanosine diphosphate; GMP: guanosine monophosphate; TNFAIP: TNF-alpha interacting protein; TNIP1: TNFAIP3 interacting protein; IL1RN: interleukin 1 receptor antagonist; HLA: human leukocyte antigen; NF-κBIA: nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha; REL: v-rel reticuloendotheliosis viral oncogene; APOE: apolipoprotein E; VDR: vitamin D receptor; TNFRSF1: tumor necrosis factor receptor superfamily; MCP: monocyte chemoattractant protein; CTLA4: cytotoxic T lymphocyte-associated protein 4; DEFB4: defensin beta 4A; IFN: interferon; ERAP: endoplasmic reticulum aminopeptidase; TRAF3IP: TRAF3 (TNF receptor-associated factor 3) interacting protein; IRAK: interleukin-1 receptor-associated kinase; TYK: tyrosine kinase; IFIH1: interferon induced with helicase C domain 1; LCE: late cornified envelope; RNF114: ring finger protein 114; #association between psoriasis and response to anti-TNF treatment; ##haplotype GG of rs3087243-rs231775 associated with psoriasis.