The <i>PTPN13</i> Y2081D (T&gt;G) (rs989902) polymorphism is associated with an increased risk of sporadic colorectal cancer

Łaczmańska, Izabela; Karpiński, Paweł; Gil, Justyna; Łaczmański, Łukasz; Makowska, Izabela; Bębenek, Marek; Ramsey, David; Sasiadek, Maria M.

doi:10.1111/codi.13727

Cited by 7 publications

(4 citation statements)

References 18 publications

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“…It is also involved in the inhibition of Fas‐induced apoptosis. Laczmanska et al () identified an association of PTPN13 rs989902 with the risk of sporadic colorectal cancer in a Caucasian population. Adipose tissue plays critical roles in the regulation of energy homeostasis, as a reservoir, by storing and releasing fuel, and as an endocrine organ, by secreting a number of hormones and cytokines (Spiegelman & Flier, ).…”

Section: Resultsmentioning

confidence: 99%

Powerful statistical method to detect disease‐associated genes using publicly available genome‐wide association studies summary data

Zhang

Zhao

Guo

et al. 2019

Genetic Epidemiology

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Genome-wide association studies (GWAS) have thus far achieved substantial success. In the last decade, a large number of common variants underlying complex diseases have been identified through GWAS. In most existing GWAS, the identified common variants are obtained by single marker-based tests, that is, testing one single-nucleotide polymorphism (SNP) at a time. Generally, the basic functional unit of inheritance is a gene, rather than a SNP. Thus, results from gene-level association test can be more readily integrated with downstream functional and pathogenic investigation. In this paper, we propose a general gene-based p-value adaptive combination approach (GPA) which can integrate association evidence of multiple genetic variants using only GWAS summary statistics (either p-value or other test statistics). The proposed method could be used to test genetic association for both continuous and binary traits through not only one study but also multiple studies, which would be helpful to overcome the limitation of existing methods that can only be applied to a specific type of data. We conducted thorough simulation studies to verify that the proposed method controls type I errors well, and performs favorably compared to single-marker analysis and other existing methods. We demonstrated the utility of our proposed method through analysis of GWAS metaanalysis results for fasting glucose and lipids from the international MAGIC consortium and Global Lipids Consortium, respectively. The proposed method identified some novel trait associated genes which can improve our understanding of the mechanisms involved in β-cell function, glucose homeostasis, and lipids traits. K E Y W O R D Sassociation test, genome-wide association study, meta-analysis, summary data

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Section: Resultsmentioning

confidence: 99%

Powerful statistical method to detect disease‐associated genes using publicly available genome‐wide association studies summary data

Zhang

Zhao

Guo

et al. 2019

Genetic Epidemiology

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“…We found no correlation between PTPN13 and its regulator miR-200c . In addition to post-transcriptional regulation of PTPN13 in CRC by miRNAs [ 41 , 42 ], its expression might be regulated through promoter hypermethylation or loss of heterozygosity [ 43 , 44 , 45 , 46 ].…”

Section: Discussionmentioning

confidence: 99%

miR-200b, ZEB2 and PTPN13 Are Downregulated in Colorectal Carcinoma with Serosal Invasion

et al. 2022

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Serosal invasion is an independent negative prognostic factor in certain cancers, including CRC. However, the mechanisms behind serosal invasion are poorly understood. We therefore assumed that epithelial-mesenchymal transition (EMT) might be involved. Our study included 34 patients with CRC, 3 stage pT2, 14 stage pT3 and 17 showing serosal invasion (stage pT4a according to TNM staging system). RNA isolated from formalin-fixed paraffin-embedded tissue samples was analysed for expression of the miR-200 family and their target genes CDKN1B, ONECUT2, PTPN13, RND3, SOX2, TGFB2 and ZEB2 using real-time PCR. We found upregulation of miR-200b and ONECUT2 in CRC pT3 and pT4a compared to normal mucosa, and downregulation of CDKN1B in CRC pT3. Moreover, we observed, downregulation of miR-200b, PTPN13 and ZEB2 in CRC with serosal invasion (pT4a) compared to pT3. Our results suggest the involvement of partial EMT in serosal invasion of CRC. In addition, PTPN13 seems to be one of the important regulators involved in serosal invasion, and ONECUT2 in tumour growth.

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“…Besides LOH, other genetic variations may be relevant to the residual allele, particularly SNPs [136]. The Y2081D Tyr2081Asp (T > G), rs989902 (rs for SNP reference), in exon 39, near the PTPN13 phosphatase domain [137], is associated with colorectal cancer in Polish patients (relative risk compared to the "wild-type" genotype: 2.087) [138], and with HNSCC in American patients (Odds Ratio, OR, =1.26) [139]. A meta-analysis of data from Caucasian and Asian patients confirmed its association with HNSCC (OR = 1.23), but a protective role was attributed to PTPN13 in colorectal cancer (OR = 0.51).…”

Section: Single Nucleotide Polymorphisms (Snp)mentioning

confidence: 99%

Dual Role of the PTPN13 Tyrosine Phosphatase in Cancer

et al. 2020

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In this review article, we present the current knowledge on PTPN13, a class I non-receptor protein tyrosine phosphatase identified in 1994. We focus particularly on its role in cancer, where PTPN13 acts as an oncogenic protein and also a tumor suppressor. To try to understand these apparent contradictory functions, we discuss PTPN13 implication in the FAS and oncogenic tyrosine kinase signaling pathways and in the associated biological activities, as well as its post-transcriptional and epigenetic regulation. Then, we describe PTPN13 clinical significance as a prognostic marker in different cancer types and its impact on anti-cancer treatment sensitivity. Finally, we present future research axes following recent findings on its role in cell junction regulation that implicate PTPN13 in cell death and cell migration, two major hallmarks of tumor formation and progression.

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The PTPN13 Y2081D (T>G) (rs989902) polymorphism is associated with an increased risk of sporadic colorectal cancer

Cited by 7 publications

References 18 publications

Powerful statistical method to detect disease‐associated genes using publicly available genome‐wide association studies summary data

Powerful statistical method to detect disease‐associated genes using publicly available genome‐wide association studies summary data

miR-200b, ZEB2 and PTPN13 Are Downregulated in Colorectal Carcinoma with Serosal Invasion

Dual Role of the PTPN13 Tyrosine Phosphatase in Cancer

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