Polymorphism L26V in the Cathepsin B Gene may be Associated with a Risk of Prostate Cancer and Differentiation

Štiblar-Martinčič, Draga; Hajdinjak, Tine

doi:10.1177/147323000903700539

Cited by 6 publications

(5 citation statements)

References 25 publications

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“…This is the case of SNP rs13332, a switch from adenine to cytokine, which was significantly associated with risk of developing hepatocarcinoma in a study performed by genotyping 135 patients [34]. they observed that this SNP was associated with a 1.71 times higher risk of developing prostate cancer in patients homozygous for this variant compared to heterozygous and wild-type homozygotes [35]. However, the present study result was different, as there was no association of SNP rs1803250 with breast cancer patients, since the difference in allelic and genotypic frequencies between control and patient groups was not significant.…”

Section: Discussionmentioning

confidence: 99%

S53G SNP in Cathepsin B: Can Be Used as a Molecular Biomarker to Breast Cancer?

Castro¹,

Calcagno²,

Amaral³

et al. 2022

OJGen

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Cathepsin B (CTS B) is a proteolytic enzyme that participates in several important biological processes. However, when it is altered can be involved in development of breast cancer, a disease with high incidence and mortality rate among women. Many studies have shown a correlation between high CTS B expression and breast tumor. Furthermore, it has been shown that the SNP rs1803250 (S53G) leads to structural and functional changes in protein that can make it pathogenic. The present study aimed to evaluate a possible association of SNP rs1803250 (S53G) with breast cancer. For this, real-time PCR was performed on a sample collected in the State of Pará, with 127 patients and 122 controls. The SNP frequency in this region was 0.12, according to a research project in progress that aims to identify Amerindians molecular alterations. This indicates that the SNP is found in region with a distribution close to worldwide frequency of 0.09. Our results showed that the SNP was in Hardy-Weinberg Equilibrium in collected sample, but C variant allelic frequency was 0.08 in both patients and control groups, which is extremely similar to global average. Moreover, homozygotes CC was not found in the sample and SNP genotypes frequency in patients and control groups was not significantly different. In addition, statistical analysis showed that the SNP did not have to correlate with tumor subtypes nor with tumor staging. Therefore, according to the analyzed sample, the SNP rs1803250 has no association with breast cancer and it cannot be considered a molecular biomarker for breast cancer.

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Section: Discussionmentioning

confidence: 99%

S53G SNP in Cathepsin B: Can Be Used as a Molecular Biomarker to Breast Cancer?

Castro¹,

Calcagno²,

Amaral³

et al. 2022

OJGen

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“…In Stiblar‐Martincic et al's study, a leucine to valine substitution (L26V) polymorphism in the Cathepsin B was indicated in relation to risk of prostate adenocarcinoma. They showed that the VV genotype of this variant be related to higher prostate adenocarcinoma, and less differentiated cancer 21 . Chen et al showed no association between CTSB rs12338, 13,332 and rs8898 variants and oral cancer 33 .…”

Section: Discussionmentioning

confidence: 99%

“…They showed that the VV genotype of this variant be related to higher prostate adenocarcinoma, and less differentiated cancer. 21 Chen et al showed no association between CTSB rs12338, 13,332 and rs8898 variants and oral cancer. 33 In another study, Chen et al found a significant effect of rs13332 but not 13,332 and rs8898 polymorphisms and hepatocellular carcinoma.…”

Section: Discussionmentioning

confidence: 99%

“…The CTSB gene is located on chromosome 8(8p23.1). There are several genetic polymorphisms in the CTSB gene whose effects on several cancers have been studied 20,21 …”

Section: Introductionmentioning

confidence: 99%

“…There are several genetic polymorphisms in the CTSB gene whose effects on several cancers have been studied. 20,21 Given the effects of AXIN1 and CTSB in tumorigenesis and lack of published study on the effects of their polymorphisms on thyroid cancer; therefore, for the first time, this study was conducted to investigate the association between AXIN1 rs12921862 C/A and rs1805105 G/A and CTSB rs12898 G/A polymorphisms and the risk of PTC in Iranian population.…”

Section: Introductionmentioning

confidence: 99%

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Association of AXIN1 rs12921862 C/A and rs1805105 G/A and CTSB rs12898 G/A polymorphisms with papillary thyroid carcinoma: A case–control study

Saljooghi

Heidari

Saravani

et al. 2022

Clinical Laboratory Analysis

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Background Papillary thyroid cancer (PTC) is the most common type of thyroid cancer which its precise etiology remains unknown. However, environmental and genetic factors contribute to the etiology of PTC. Axis inhibition protein 1 (Axin1) is a scaffold protein that exerts its role as a tumor suppressor. In addition, Cathepsin B (Ctsb) is a cysteine protease with higher expression in several types of tumors. Therefore, the aim of this study was to investigate the possible association of AXIN1 rs12921862 C/A and rs1805105 G/A and CTSB rs12898 G/A polymorphisms with PTC susceptibility. Materials & Methods In total, 156 PTC patients and 158 sex‐, age‐, and BMI‐matched control subjects were enrolled in the study. AXIN1 rs12921862 C/A and rs1805105 G/A and CTSB rs12898 G/A polymorphisms were genotyped using the PCR–RFLP method. Results There was a relationship between AXIN1 rs12921862 C/A polymorphism and an increased risk of PTC in all genetic models except the overdominant model. The AXIN1 rs1805105 G/A polymorphism was associated with an increased PTC risk only in codominant and overdominant models. The frequency of AXIN1 Ars12921862 Ars1805105 haplotype was higher in the PTC group and also this haplotype was associated with an increased risk of PTC. Moreover, the AXIN1 rs12921862 C/A polymorphism was not associated with PTC clinical and pathological findings, but AXIN1 rs1805105 G/A polymorphism was associated with almost three folds of larger tumor size (≥1 cm). There was no association between CTSB rs12898 G/A polymorphism and PTC and its findings. Conclusion The AXIN1 rs12921862 C/A and rs1805105 G/A polymorphisms were associated with PTC. AXIN1 rs1805105 G/A polymorphism was associated with higher tumor size.

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Cathepsin B SNPs elevate the pathological development of oral cancer and raise the susceptibility to carcinogen-mediated oral cancer

Chen

Lin

et al. 2012

Hum Genet

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Oral cancer is causally associated with environmental carcinogens, and the susceptibility to carcinogen-mediated tumorigenesis is proposed to be genotype-dependent. Cathepsin B (CTSB) is a lysosomal cysteine protease and may serve as a candidate biomarker of oral cancer. The current study aimed to explore the influences of three single nucleotide polymorphisms (SNPs) in CTSB gene, combined with environmental carcinogens on the risk and clinicopathological development of oral cancer. Three SNPs of CTSB, CTSB C76G (rs12338), CTSB A4383C (rs13332), and CTSB A8422G (rs8898), from 444 male patients with oral cancer and 426 control participants (males not diagnosed with cancer) in Taiwan were analyzed. These three CTSB SNPs all exhibited insignificant (P > 0.05) effects on the risk of oral cancer. However, the risk for developing the poor clinical stage of moderately or poorly differentiated cells was significantly (P < 0.001) increased to 3.325-fold in patients with oral cancer carrying the polymorphic genotype of rs8898 compared to patients with the ancestral genotype. Additionally, while considering the exposure of environmental carcinogens, the presence of these three CTSB SNPs, combined with betel quid chewing [adjusted odds ratio (AOR) was 36.570, 21.772, and 43.962 for rs12338, rs13332, and rs8898, respectively] and/or tobacco use (AOR was 3.794, and 8.972 for rs12338 and rs13332, respectively), robustly elevated the susceptibility to oral cancer. These results suggest that the genetic polymorphism of CTSB A8422G (rs8898) was associated with a high risk for the clinicopathological development of oral cancer and CTSB gene polymorphisms may increase the susceptibility to environmental carcinogens-mediated oral cancer.

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Polymorphism L26V in the Cathepsin B Gene may be Associated with a Risk of Prostate Cancer and Differentiation

Cited by 6 publications

References 25 publications

S53G SNP in Cathepsin B: Can Be Used as a Molecular Biomarker to Breast Cancer?

S53G SNP in Cathepsin B: Can Be Used as a Molecular Biomarker to Breast Cancer?

Association of AXIN1 rs12921862 C/A and rs1805105 G/A and CTSB rs12898 G/A polymorphisms with papillary thyroid carcinoma: A case–control study

Cathepsin B SNPs elevate the pathological development of oral cancer and raise the susceptibility to carcinogen-mediated oral cancer

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