One of the few conditions where the genetics led straight to the medicine. The pathways the 2009 scan implicated — IL-23 and NF-κB — are the pathways the drugs that changed psoriasis treatment now block.
Solid lines are connections this site curates. Dashed lines mean the two ends share a research paper — worth knowing, and not a claim that one explains the other.
Psoriasis is an immune-mediated disease of the skin, nails and joints: the immune system attacks tissue that is not infected, and skin cells are pushed to the surface far faster than they should be.
Most genome-wide findings point at biology nobody knows what to do with yet. Psoriasis is the exception worth knowing about.
A 2009 scan of 438,670 positions in 1,409 patients and 1,436 controls, followed up in 5,048 patients and 5,041 controls, gave strong support to two pathways: IL-23 and NF-κB.
Drugs that block IL-23 are now among the most effective treatments for psoriasis there are. The genetics did not invent them, but it pointed at the pathway and gave the confidence to pursue it — which is what people mean when they say a genome-wide study "worked".
The HLA region encodes the molecules that present fragments of protein to the immune system so it can decide what is foreign. When a disease's strongest signal is in HLA — as it is here, and in coeliac disease, type 1 diabetes and several others — that is a statement about what the disease is: an immune system making a decision about self.
It is also the region where a single common variant carries more risk than almost anywhere else in the genome, which is why HLA associations look so unlike the rest of a GWAS.
Psoriasis is diagnosed by looking at skin, not at DNA. Most people carrying these variants never develop it, and people without them do. Onset involves triggers — infection, injury to the skin, stress, some medicines — that no genotype predicts.
And no guideline chooses a psoriasis treatment from a genotype, including HLA-C*06:02, although whether it should is an open research question rather than a settled no.
Positions joined since this page was written
What this is The text above discusses the variants this page was written around. Since then the catalogue has joined 217 more positions to it, by shared trait or shared paper. They are listed here by the paper each came from; the text does not describe them, and each variant page carries that study's own record.
Zhang M et al. 2025, Journal of translational medicine rs10947210 (near LINC01149), rs1419636 (OR5V1), rs2021511 (SOCS1), rs7765136 (SNHG32), rs3132572 (DDR1), rs9266303 (HLA-B), rs72866766 (near HLA-B), rs6909939 (POU5F1), rs17202259 (TSBP1-AS1), rs17185076 (HLA-F-AS1), rs3800311 (near PRSS16), rs2523710 (HCP5) and 153 more — PMID:39885523
Dand N et al. 2025, Nature communications rs7108441 (PRR5L), rs74688172 (PRR5L), rs4728141 (near IRF5), rs7171410 (PDE8A), rs8107351 (ELL), rs13137072 (IL21), rs56007024 (ADCY3), rs3825765 (LINC02298), rs75826800 (near CEBPG), rs13029175 (ACOXL), rs35008063 (SP140), rs62196011 (SCLY) and 5 more — PMID:40021644
Verma A et al. 2024, Science (New York, N.Y.) rs664157 (near POLI), rs111580405 (STAT2), rs4664464 (GCA), rs149209614 (PAN2), rs588489 (near POLI), rs4346218 (SETD1A), rs61839672 (near RPL32P23), rs41295071 (near RPL32P23), rs598493 (TNFAIP3), rs11653893 (CARD14), rs559678870 (SLC17A4) — PMID:39024449
Loya H et al. 2025, Nature genetics rs1655901 (POLR1HASP), rs9391884 (near HLA-DRB9), rs114164395 (near USP8P1), rs75086869 (SYNGAP1), rs191369094 (near LINC00336), rs188245 (near BRD2), rs154973 (near HLA-DMB), rs73737915 (near HLA-DOA), rs79489735 (near MIR588), rs653468 (near LINC01625) — PMID:39789286
Liu S et al. 2024, Briefings in bioinformatics rs6457109 (POLR1HASP), rs74817271 (TNIP1), rs62401434 (ZSCAN16-AS1), rs2596546 (HLA-B), rs9468487 (near OR2N1P), rs1306395 (REL-DT), rs34693947 (TNRC18), rs6067293 (near RNU6-147P) — PMID:39883516
Sakaue S et al. 2021, Nature genetics rs12212594 (near HLA-B), rs1050414 (HLA-C) — PMID:34594039
Zhang Q et al. 2023, The Journal of investigative dermatology rs148755083 (IL36RN) — PMID:36804966
Stuart PE et al. 2015, American journal of human genetics rs2675669 (CAMK2G) — PMID:26626624
Al-Janabi A et al. 2023, The Journal of investigative dermatology rs72925168 (SLC1A2) — PMID:36804406
Heikkilä A et al. 2024, The Journal of investigative dermatology rs540696640 (ROBO1) — PMID:38763176
2026-03-14 · Cross-Trait Genome-Wide Association Studies Identify Shared Genetic Risk Loci Between Psoriasis and Metabolic Syndrome and Their Associated Traits. Metabolic Syndrome and Related Disorders. 2026. DOI:10.1177/15578518261426293
Psoriasis and metabolic syndrome frequently co-occur, and this study tested how much of that overlap is genetic. Combining GWAS data across European populations, it found significant genetic association between psoriasis and five individual metabolic traits (BMI, HDL cholesterol, triglycerides, waist circumference, type 2 diabetes) as well as metabolic syndrome as a composite trait. Pleiotropy analysis identified 141 shared risk loci, 22 of them supported by strong Bayesian colocalization evidence (posterior probability >=0.75) indicating a genuinely shared causal variant rather than two coincidentally overlapping signals. Pathway analysis of 195 pleiotropic genes pointed to immune and inflammatory signaling, transcriptional and epigenetic regulation, autophagy, and lipid-cholesterol metabolism as the shared biological threads. Integrating multiple analytical approaches, the study prioritized three candidate therapeutic target genes: KAT8, STX4, and VKORC1 -- the last being the same gene this site's own warfarin-sensitivity content already covers as the classic pharmacogenomic target for anticoagulant dosing, here showing up in a completely different context as a candidate link between psoriasis and metabolic disease. This site's psoriasis page carries 58 variants; none of KAT8, STX4 or VKORC1 are currently among them, and the study reports pleiotropy/colocalization statistics rather than a single lead rsID with a GWAS Catalog-style p-value, so this entry documents the shared genetic architecture at the condition level.
2026-05-15 · Genome-Wide Association Study of Psoriasis, Psoriatic Arthritis, Anti-TNF-alpha Response, and Polygenic Risk Score in a Russian Cohort. International Journal of Molecular Sciences. 2026. DOI:10.3390/ijms27104422
Most psoriasis genetics comes from Western European and East Asian cohorts; this is among the first substantial GWAS in a Russian population. Analyzing 1,026 psoriasis patients and 9,212 controls, the study replicated the classic MHC association at extreme strength: rs12189871 near HLA-C (P=3.2x10^-50, OR=2.99) -- already the strongest-known psoriasis signal, here confirmed with unusually large effect and significance in a population not previously well represented in psoriasis genetics. It also identified additional genome-wide loci in ZC3H8 and PLCL2, both new to this site's coverage. Smaller exploratory analyses of psoriatic arthritis (96 patients) and response to TNF-alpha inhibitor drugs (adalimumab, infliximab, etanercept; 48 patients) found nominal signals -- IL18R1/IL18RAP for treatment response, RCL1 and FBLIM1 for psoriatic arthritis -- but these were run without full covariate adjustment or population-structure modeling and the authors explicitly describe them as hypothesis-generating, requiring independent validation before being treated as established findings. This site's psoriasis page already carries HLA-C from other studies; ZC3H8 and PLCL2 are genuine additions from this large, ancestry-diverse replication.
2025-10-13 · A Genome-Wide Association Study in Psoriasis Patients Reveals Variants Associated with Response to Treatment with Interleukin-17A Pathway Inhibitors. Genes. 2025. DOI:10.3390/genes16101187
IL-17A pathway inhibitors (secukinumab, ixekizumab, bimekizumab, and the IL-17 receptor blocker brodalumab) are highly effective psoriasis biologics, but patient response varies significantly, and this study looked for genetic markers explaining why. Following 88 Greek patients treated for at least 6 months, classified as responders or non-responders by Psoriasis Area and Severity Index change, and genotyping 730,000 variants, it found 21 variants significantly associated with treatment response after Bonferroni correction. These span protein-coding genes TP63, NRG1, SCN8A, TAF9, TMEM9, SMIM36, SYT14, BPIFC, SEZ6L2 and PCARE, plus intergenic and lncRNA-intronic variants. In silico analysis linked several to immune processes. One variant stood out functionally: rs11649499, associated with complete clinical remission at 3 months, may influence lipid mediators specifically implicated in psoriasis biology -- a plausible mechanistic story, not just a statistical hit. This is a genuinely pharmacogenomic finding -- who responds to a specific expensive biologic drug class -- distinct from this site's existing psoriasis risk-gene content, though the authors note validation in larger populations is still needed before clinical use. This site's psoriasis page carries 58 variants; none of these treatment-response genes are currently among them.
2026-09-17 · Jo H, et al. Integration of GWAS and single-cell analysis for psoriasis identifies disease-associated cell subtypes and therapeutic targets. Nature Communications. 2026. DOI:10.1038/s41467-026-77309-2
A team at Sungkyunkwan University and Samsung Medical Center (Seoul) combined a genome-wide meta-analysis of over 1.1 million people with single-cell analysis, identifying 125 genetic loci linked to psoriasis susceptibility -- 108 previously known (many of which, including the HLA-C, IL23R, IL12B and TNIP1 signals, are already catalogued on this page) and 17 newly reported. The single-cell layer let the authors map which specific skin and immune cell types each locus most likely acts through, and flag around 50 candidate therapeutic-target genes. The press materials for this study did not name the 17 new loci individually, so none are added to this catalogue yet -- they should surface through the normal orphan-variant sweep once GWAS Catalog indexes this study's full summary statistics.
The source. Nair et al. (Nat Genet 2009) genotyped 438,670 SNPs in 1,409 psoriasis cases and 1,436 controls of European ancestry, following up 21 promising SNPs in 5,048 cases and 5,041 controls. The results provided strong support for the involvement of the IL-23 and NF-κB pathways.
The variants recorded here. rs12191877 tags the HLA-C region; the risk allele of HLA-C*06:02 is the strongest known genetic determinant of psoriasis susceptibility and is more strongly associated with early-onset, type I disease. rs17728338 lies near TNIP1, whose product binds A20 (TNFAIP3) in the negative regulation of NF-κB signalling.
Therapeutic relevance of the pathways. IL-23 and the IL-23/Th17 axis implicated by this and contemporaneous scans are the targets of the IL-23p19 and IL-12/23p40 inhibitors now used in moderate-to-severe psoriasis. This is among the clearest instances of genome-wide association findings converging with successful drug development, though the drugs were not derived from these results.
Clinical boundary. Psoriasis is a clinical diagnosis. Genotype is not used diagnostically, prognostically or to select therapy; HLA-C*06:02 status has been studied as a predictor of response to particular biologics but is not incorporated into any guideline.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Psoriasis comes down to these specific, well-studied positions — not a diagnosis. 282 positions are linked to this page; the ones this page's own text discusses are shown first.
near ADO · rs10761661
See detailed info →ZMIZ1 · rs1108617
See detailed info →near COQ10A · rs111885088
See detailed info →near HLA-C · rs13214872
See detailed info →The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 58 of 282 linked studies with a resolved discovery ancestry.
Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.
Psoriasis. MyGeneLog™. https://www.mygenelog.com/conditions/psoriasis
Not directly, but it did something rarer than usual: it pointed at IL-23 and NF-κB, and drugs blocking IL-23 are now among the most effective treatments there are. Most genome-wide findings point at biology nobody yet knows what to do with; this is the counter-example.
Because HLA molecules present protein fragments to the immune system so it can decide what is foreign. When a disease’s strongest signal is there, that is a statement about what the disease is — an immune system making a decision about self. Coeliac disease and type 1 diabetes look the same way.
Not yet in practice. HLA-C*06:02 has been studied as a predictor of response to some biologics and the results are interesting, but no guideline uses it. That is an open question rather than a settled no.
Most people who carry them do not, and people without them do. Onset involves triggers — infection, skin injury, stress, certain medicines — that no genotype predicts, and the diagnosis is made by looking at skin.
Free to reuse. This page's text is original writing from freely-available research, licensed CC BY 4.0 — reuse it, including commercially, with attribution to MyGeneLog™. It's general research-derived information, not medical advice or a diagnosis — see Terms of Use.