Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Psoriasis

Psoriasis is quite heritable. It is associated with various loci throughout the genome. Themain loci are summarized here.

Systematic

Hereditary dermatological disorders
Autoinflammation with arthritis and dyskeratosis
Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
Dyschromatosis symmetrica hereditaria
Ectodermal dysplasia and immunodeficiency
Epidermolysis bullosa
Familial acne inversa 1
Griscelli syndrome type 2
Hermansky-Pudlak syndrome 2
Incontinentia pigmenti
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Interleukin 36 receptor antagonist deficiency
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Neonatal inflammatory skin and bowel disease type 1
Nephropathy with pretibial epidermolysis bullosa and deafness
Piebaldism
Psoriasis
CARD14 associated psoriasis
Pityriasis rubra pilaris
CARD14
Psoriasis 02
CARD14
Psoriasis 14
IL36RN
Psoriasis 15
AP1S3
Psoriasis susceptibility 1
HLA-C
Psoriasis susceptibility 10
Psoriasis susceptibility 11
Psoriasis susceptibility 12
Psoriasis susceptibility 13
TRAF3IP2
Psoriasis susceptibility 3
Psoriasis susceptibility 4
Psoriasis susceptibility 5
Psoriasis susceptibility 6
Psoriasis susceptibility 7
Psoriasis susceptibility 8
Psoriasis susceptibility 9
Pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Susceptibility to vitiligo-associated multiple autoimmune disease 1

References:

1.

Nair RP et al. (2009) Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.

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2.

Vasilopoulos Y et al. (2008) Association analysis of the skin barrier gene cystatin A at the PSORS5 locus in psoriatic patients: evidence for interaction between PSORS1 and PSORS5.

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3.

Lee YA et al. (2000) Genomewide scan in german families reveals evidence for a novel psoriasis-susceptibility locus on chromosome 19p13.

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4.

Hüffmeier U et al. (2009) Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1.

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5.

Wu LS et al. (2011) A miRNA-492 binding-site polymorphism in BSG (basigin) confers risk to psoriasis in central south Chinese population.

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6.

Veal CD et al. (2001) Identification of a novel psoriasis susceptibility locus at 1p and evidence of epistasis between PSORS1 and candidate loci.

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7.

Parham C et al. (2002) A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rbeta1 and a novel cytokine receptor subunit, IL-23R.

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8.

Kauffman CL et al. (2004) A phase I study evaluating the safety, pharmacokinetics, and clinical response of a human IL-12 p40 antibody in subjects with plaque psoriasis.

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9.

Cargill M et al. (2007) A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.

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10.

Capon F et al. (2007) Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis.

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11.

Hüffmeier U et al. (2009) Genetic variants of the IL-23R pathway: association with psoriatic arthritis and psoriasis vulgaris, but no specific risk factor for arthritis.

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12.

Hüffmeier U et al. (2005) Systematic linkage disequilibrium analysis of SLC12A8 at PSORS5 confirms a role in susceptibility to psoriasis vulgaris.

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13.

Nair RP et al. (2001) Lack of association between NOD2 3020InsC frameshift mutation and psoriasis.

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14.

Borgiani P et al. () Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population.

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15.

None (2003) The International Psoriasis Genetics Study: assessing linkage to 14 candidate susceptibility loci in a cohort of 942 affected sib pairs.

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16.

Young C et al. (2003) A Crohn's disease-associated insertion polymorphism (3020insC) in the NOD2 gene is not associated with psoriasis vulgaris, palmo-plantar pustular psoriasis or guttate psoriasis.

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17.

Zhang XJ et al. (2002) Evidence for a major psoriasis susceptibility locus at 6p21(PSORS1) and a novel candidate region at 4q31 by genome-wide scan in Chinese hans.

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18.

Asumalahti K et al. (2003) Psoriasis susceptibility locus on 18p revealed by genome scan in Finnish families not associated with PSORS1.

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19.

Tsunemi Y et al. (2002) Interleukin-12 p40 gene (IL12B) 3'-untranslated region polymorphism is associated with susceptibility to atopic dermatitis and psoriasis vulgaris.

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20.

Capon F et al. (2008) Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene.

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21.

Onoufriadis A et al. (2012) Identification of rare, disease-associated variants in the promoter region of the RNF114 psoriasis susceptibility gene.

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22.

de Cid R et al. (2009) Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis.

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23.

Enlund F et al. (1999) Analysis of three suggested psoriasis susceptibility loci in a large Swedish set of families: confirmation of linkage to chromosome 6p (HLA region), and to 17q, but not to 4q.

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24.

Capon F et al. (1999) Searching for psoriasis susceptibility genes in Italy: genome scan and evidence for a new locus on chromosome 1.

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25.

Capon F et al. (1999) Evidence for interaction between psoriasis-susceptibility loci on chromosomes 6p21 and 1q21.

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26.

Capon F et al. (2001) Fine mapping of the PSORS4 psoriasis susceptibility region on chromosome 1q21.

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27.

Giardina E et al. (2004) Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus.

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28.

Zenz R et al. (2005) Psoriasis-like skin disease and arthritis caused by inducible epidermal deletion of Jun proteins.

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29.

Sun C et al. (2006) Peptidoglycan recognition proteins Pglyrp3 and Pglyrp4 are encoded from the epidermal differentiation complex and are candidate genes for the Psors4 locus on chromosome 1q21.

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30.

Giardina E et al. (2006) Co-localization of susceptibility loci for psoriasis (PSORS4) and atopic dermatitis (ATOD2) on human chromosome 1q21.

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31.

Chen H et al. (2009) Association of skin barrier genes within the PSORS4 locus is enriched in Singaporean Chinese with early-onset psoriasis.

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32.

Nair RP et al. (1997) Evidence for two psoriasis susceptibility loci (HLA and 17q) and two novel candidate regions (16q and 20p) by genome-wide scan.

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33.

Zhang XJ et al. (2009) Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21.

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34.

Nemoto-Hasebe I et al. (2009) FLG mutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema.

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35.

Hu Z et al. (2012) Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population.

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36.

Matthews D et al. (1996) Evidence that a locus for familial psoriasis maps to chromosome 4q.

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37.

Liu Y et al. (2008) A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.

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38.

Caruso R et al. (2009) Involvement of interleukin-21 in the epidermal hyperplasia of psoriasis.

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39.

Enlund F et al. () Psoriasis susceptibility locus in chromosome region 3q21 identified in patients from southwest Sweden.

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40.

Hewett D et al. (2002) Identification of a psoriasis susceptibility candidate gene by linkage disequilibrium mapping with a localized single nucleotide polymorphism map.

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41.

Samuelsson L et al. (2004) Association analysis of cystatin A and zinc finger protein 148, two genes located at the psoriasis susceptibility locus PSORS5.

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Update: Aug. 14, 2020
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