Genome-wide studies of psoriasis susceptibility loci: a review

Sagoo, Gurdeep S.; Cork, Michael J.; Patel, Ramila; Tazi-Ahnini, Rachid

doi:10.1016/j.jdermsci.2004.02.009

Cited by 30 publications

(19 citation statements)

References 49 publications

(144 reference statements)

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“…An example of evolution of genetic studies in understanding the mechanism and the heredity of disease is the research on psoriasis, a common, chronic dermatological disease, that affects about 2-5% of the Caucasian population [27][28][29][30]. First, population studies indicated the familial component of psoriasis highlighting the greater incidence among first-and second-degree relatives of patients than among the general population, and the high concordance among twins [30,31].…”

Section: Risk Prediction and Prevention Of Diseasesmentioning

confidence: 99%

“…First, population studies indicated the familial component of psoriasis highlighting the greater incidence among first-and second-degree relatives of patients than among the general population, and the high concordance among twins [30,31]. Successively, genomewide linkage analysis identified several susceptibility loci for psoriasis, among them the major genetic determinant is PSORS1, which seems to account for 35-50% of the heritability of psoriasis [28,30,32]. Between psoriasis loci, recently PSORS4 has been found to involve an important variant for psoriasis susceptibility.…”

Section: Risk Prediction and Prevention Of Diseasesmentioning

confidence: 99%

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Personalized genomic medicine

Novelli¹

2010

Intern Emerg Med

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Personalized medicine provide to physicians a molecular makeup of each patient. Looking at the patient on this level helps the physician get a profile of the patient's genetic distinction, or mapping. By investigating this genetic profile, medical professionals are then able to select patients, and use the found information to plan out a course of treatment that is much more in step with the way their body works. Personalize medicine is a direct extension of the genomic medicine that use genetic information to prevent or treat disease in adults or their children.

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Section: Risk Prediction and Prevention Of Diseasesmentioning

confidence: 99%

Section: Risk Prediction and Prevention Of Diseasesmentioning

confidence: 99%

Personalized genomic medicine

Novelli¹

2010

Intern Emerg Med

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“…2 Despite extensive efforts focused on identifying psoriasis susceptibility loci using genome-wide studies, only the PSORS1 locus, located within the major histocompatibility complex (MHC) on chromosome 6p21.3, has been consistently replicated. 3 The PSORS1 locus is known to be by far the strongest susceptibility locus and although 19 loci on 15 different chromosomes have been implicated in total, a meta-analysis of six genome-wide studies revealed evidence for linkage to only two regions. 4 Because of the difficulties in replicating and identifying actual susceptibility genes within these identified regions, gene-gene interactions have not been extensively explored.…”

Section: Introductionmentioning

confidence: 99%

HLA-C, CSTA and DS12346 susceptibility alleles confer over 100-fold increased risk of developing psoriasis: evidence of gene interaction

Vasilopoulos

Sagoo²,

Cork

et al. 2011

J Hum Genet

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Psoriasis is an inflammatory skin disorder that exhibits multifactorial mode of inheritance. In addition to the well-known susceptibility locus PSORS1 many other loci have been shown to be implicated in the genetic predisposition for disease. However, interactions between loci have not been thoroughly explored. Thus, we measured the effect of potential interaction between human leukocyte antigen (HLA)-C, CSTA and D1S236 at PSORS1, PSORS4 and PSORS5, respectively, in the development of psoriasis. Analysis of 130 Caucasian psoriatic families showed that the risk to an HLA-Cw6 +ve individual who carries two copies of the risk allele at both the CSTA and D1S2346 is 105 times the risk to an HLA-Cw6 +ve individual who does not carry any risk alleles at the CSTA or D1S2346. This is the first demonstration of an interaction between risk alleles in three susceptibility loci suggesting possible functional interaction between genes in these loci, which might explain the complexity of the pathogenesis of psoriasis.

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“…6 A strong genetic component was confirmed by twin studies 7 and it has been further proposed that psoriasis is a disease involving gene -gene as well as gene -environment interactions exemplified by streptococcal infection, stress, smoking and physical trauma. 8 -10 During the past decade extensive research effort has focused on identifying psoriasis susceptibility loci, using linkage analysis on large family collections reviewed by Sagoo et al 11 However, the only consistently replicated linkage in most of these studies was with the HLA region, (PSORS1), on chromosome 6p21.3 that contains the major histocompatibility complex. 12 In particular, it was well demonstrated that psoriasis is strongly associated with the human leucocyte-associated antigen HLA-Cw6 and individuals harboring this allele were found to have a 10-to 20-fold increased risk for developing psoriasis.…”

Section: Introductionmentioning

confidence: 99%

Association analysis of the skin barrier gene cystatin A at the PSORS5 locus in psoriatic patients: evidence for interaction between PSORS1 and PSORS5

et al. 2008

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Family-based analysis has revealed several loci for psoriasis and the locus, PSORS5, on chromosome 3q21 has been found in two independent studies. In this region, cystatin A (CSTA) encodes a skin barrier cystein protease inhibitor found in human sweat and it is over-expressed in psoriatic skin. Three CSTA markers at positions -190 (g.À190T4C), þ 162 (c.162T4C) and þ 344 (c.344C4T) were analysed in 107 unrelated patients and 216 matched controls. There was a significant trend for association with CSTA c.162T4C and psoriasis (odds ratio (OR) ¼ 3.45, Po0.001). Analysis of constructed haplotypes showed a highly significant association between disease and CSTA -190T/ þ 162C/ þ 344C (CSTA TCC) (P ¼ 10 À6 ). In independent study, a TDT analysis in 126 nuclear families confirmed the over-transmission of CSTA TCC (P ¼ 0.0001). The presence of statistical interaction between CSTA TCC haplotype and HLA-Cw6 at PSORS1 locus was detected by performing TDT analysis on CSTA haplotypes stratified by the presence or absence of the risk allele at HLA-Cw6 locus. To estimate the disease risk we employed conditional logistic regression on the family data. The CSTA TCC haplotype is only associated with psoriasis in those individuals carrying the risk allele at the HLA-Cw6 locus (OR ¼ 2.22, P ¼ 0.0004, 95% CI ¼ 1.42, 3.49). These results represent a major step towards the dissection of genetic factors involved in the pathogenesis of psoriasis.

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Genome-wide studies of psoriasis susceptibility loci: a review

Cited by 30 publications

References 49 publications

Personalized genomic medicine

Personalized genomic medicine

HLA-C, CSTA and DS12346 susceptibility alleles confer over 100-fold increased risk of developing psoriasis: evidence of gene interaction

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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