Integration of expression quantitative trait loci and pleiotropy identifies a novel psoriasis susceptibility gene, <i>PTPN1</i>

Yin, Xianyong; Lin, Yuan; Shen, Changbing; Zuo, Xianbo; Zheng, Xiaodong; Yang, Sen; Liu, Jing; Wilhelmsen, Kirk C.; Zhang, Xuejun

doi:10.1002/jgm.2939

Cited by 5 publications

(4 citation statements)

References 41 publications

(91 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Besides these, Yin et al evaluated the common genetic factors shared between psoriasis and schizophrenia. Even though they reported that any common variant was not found between two diseases, they claimed that PTPN1 gene may be a novel-susceptible gene for psoriasis which interacts with well-known susceptible genes for psoriasis such as NFKBA, STAT3, and TYK2 genes [ 7 ]. Similarly, we showed significantly upregulated PTPN1 gene expression in the lesional psoriatic skin than the non-lesional skin of the same patients, and also healthy skin of controls.…”

Section: Discussionmentioning

confidence: 99%

“…In the literature, the expression of EREG, PTPN1, and SER-PINB7 genes have been evaluated in a few studies, and these genes are claimed to be novel susceptible genes for psoriasis especially related to keratinocytes, adipocytes, other immunological cells [2,[7][8][9][10]. Unlike these studies, we investigated all these genes together, at the tissue level, and in more samples.…”

Section: Objectivesmentioning

confidence: 99%

See 1 more Smart Citation

The Role of EREG, PTPN1, and SERPINB7 Genes in the Pathogenesis of Psoriasis: May SERPINB7 Be Protective and a Marker of Severity for Psoriasis?

Ayvaz

Öztürk

Seyirci

et al. 2023

Dermatol Pract Concept

View full text Add to dashboard Cite

Introduction: Psoriasis is a chronic inflammatory dermatological disease with complex pathogenesis in which many immune system cells, including keratinocytes, play a role. Many genes regulate the proliferation of keratinocytes and other immune cells that have essential roles in the pathogenesis of psoriasis.The expressions of EREG, PTPN1, and SERPINB7 genes were shown as upregulated in psoriatic skins in a few studies previously. Objectives: We aimed to evaluate the expressions of these genes in psoriatic lesional skin and com-pared them with non-lesional adjacent skin of the same patients and normal skin of healthy controls. Results: Our results revealed that the expressions of EREG and PTPN1 genes were upregulated,whereas the SERPINB7 gene expression was down regulated in the psoriatic skin of the patients than normal skin of controls. Moreover, the expression level of the SERPINB7 gene was also negatively correlated with the severity of the disease among patients. Conclusions: According to our results, overexpression of EREG and PTPN1 genes, and decreased expression of SERPINB7 gene may lead to the development of psoriasis.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Objectivesmentioning

confidence: 99%

The Role of EREG, PTPN1, and SERPINB7 Genes in the Pathogenesis of Psoriasis: May SERPINB7 Be Protective and a Marker of Severity for Psoriasis?

Ayvaz

Öztürk

Seyirci

et al. 2023

Dermatol Pract Concept

View full text Add to dashboard Cite

show abstract

“…Calculation of cFDR , ccFDR and GPA. Both cFDR and GPA are well-established pleiotropic methods for incorporating GWAS data at the summary statistic level, which have been widely applied to many diseases or traits [45][46][47][48] . We briefly summarized both approaches in the following section.…”

Section: Data Processingmentioning

confidence: 99%

Identification of potentially common loci between childhood obesity and coronary artery disease using pleiotropic approaches

Wang

Zhang

et al. 2022

Sci Rep

View full text Add to dashboard Cite

Childhood obesity remains one of the most important issues in global health, which is implicated in many chronic diseases. Converging evidence suggests that a higher body mass index during childhood (CBMI) is significantly associated with increased coronary artery disease (CAD) susceptibility in adulthood, which may partly arise from the shared genetic determination. Despite genome-wide association studies (GWASs) have successfully identified some loci associated with CBMI and CAD individually, the genetic overlap and common biological mechanism between them remains largely unexplored. Here, relying on the results from the two large-scale GWASs (n = 35,668 for CBMI and n = 547,261 for CAD), linkage disequilibrium score regression (LDSC) was used to estimate the genetic correlation of CBMI and CAD in the first step. Then, we applied different pleiotropy-informed methods including conditional false discovery rate ($$\mathrm{cFDR}$$ cFDR ) and genetic analysis incorporating pleiotropy and annotation (GPA) to detect potentially common loci for childhood obesity and CAD. By integrating the genetic information from the existing GWASs summary statistics, we found a significant positive genetic correlation ($${r}_{g}$$ r g = 0.127, p = 2E−4) and strong pleiotropic enrichment between CBMI and CAD (LRT = 79.352, p = 5.2E−19). Importantly, 28 loci were simultaneously discovered to be associated with CBMI, and 13 of them were identified as potentially pleiotropic loci by $$\mathrm{cFDR}$$ cFDR and GPA. Those corresponding pleiotropic genes were enriched in trait-associated gene ontology (GO) terms “amino sugar catabolic process”, “regulation of fat cell differentiation” and “synaptic transmission”. Overall, the findings of the pleiotropic loci will help to further elucidate the common molecular mechanisms underlying the association of childhood obesity and CAD, and provide a theoretical direction for early disease prevention and potential therapeutic targets.

show abstract

“…This may assist in explaining the epidemiological association that exists between PsO and SCZ. Yin et al (2017) conducted PsO and SCZ whole blood expression quantitative trait loci (eQTL) analysis and observed a significant pleiotropic effect between PsO and SCZ. GWAS data analysis of PsO and SCZ shows the abundance of eQTL in whole blood, and reveals that the common variants of these two diseases are more likely to confer eQTL effects.…”

Section: Metabolic Syndromementioning

confidence: 99%

Cognitive Process of Psoriasis and Its Comorbidities: From Epidemiology to Genetics

Gao

Shen

et al. 2021

Front. Genet.

Self Cite

View full text Add to dashboard Cite

Psoriasis (PsO) is a chronic inflammatory skin disease that affects approximately 2% of the population all over the world. Comorbidities of PsO have increasingly garnered more interest in the past decades. Compared with the normal population, the incidences of comorbidities are higher among patients with PsO. In the last 20 years, researchers have focused on studying the genetic components of PsO, and genetic associations between PsO and its comorbidities were elucidated. This review provides an in-depth understanding and summarization of the connection between PsO and its comorbidities from the perspectives of epidemiology and genetics. Further understanding of PsO and its comorbidities will promote research on the pathogenesis, drug development, novel therapy methods, and personalized and precision treatment of PsO and its comorbidities.

show abstract

Integration of expression quantitative trait loci and pleiotropy identifies a novel psoriasis susceptibility gene, PTPN1

Abstract: The results of the present study highlight the expression quantitative trait loci enrichment and pleiotropy in psoriasis and schizophrenia, and also suggest a possible key role of the PTPN1 gene in the etiology of psoriasis.

Cited by 5 publications

References 41 publications

The Role of EREG, PTPN1, and SERPINB7 Genes in the Pathogenesis of Psoriasis: May SERPINB7 Be Protective and a Marker of Severity for Psoriasis?

The Role of EREG, PTPN1, and SERPINB7 Genes in the Pathogenesis of Psoriasis: May SERPINB7 Be Protective and a Marker of Severity for Psoriasis?

Identification of potentially common loci between childhood obesity and coronary artery disease using pleiotropic approaches

Cognitive Process of Psoriasis and Its Comorbidities: From Epidemiology to Genetics

Contact Info

Product

Resources

About