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Entity | Lung cancer |
Note | Lee et al. (2009) showed that the CASP7 rs2227310 g.C>G polymorphism was associated with the risk of lung cancer. Yoo et al. (2009) also demonstrated that the CASP7 rs2227310 polymorphism may affect survival in early-stage non-small cell lung cancer (NSCLC), suggesting that the analysis of this polymorphism can help identify patients at high risk for a poor disease outcome. Qian et al. (2012) also provided evidence that genetic variations of CASP7 may modulate overall survival and progression-free survival of patients with advanced NSCLC treated with platinum-based chemotherapy. |
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Entity | Esophageal cancer |
Note | Liu et al. (2010) described that polymorphisms in CASP7 gene was associated with increased risk of esophageal cancer. |
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Entity | Childhood leukemia |
Note | Park et al. (2012) suggested that three SNPs in CASP7 acts as a strong apoptosis signal that block or delay the apoptosis of childhood leukemia cancer cells. |
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Entity | Colorectal cancer |
Note | Palmerini et al. (2001) described a loss of caspase-7 in 84% of colon cancers, suggesting that caspase-7 deficiency might be used as a new immunohistochemical marker of colonic neoplasia. Chae et al. (2011) reported that CASP7 rs2227310 polymorphism may be useful marker to predict the prognosis of patients with surgically resected colorectal cancer. |
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Entity | Gastric cancer |
Note | Yoo et al. (2004) observed loss of capase-2, capase-6 and capase-7 expression in gastric cancers irrespective of depth of invasion and histological subtypes suggesting a role in the development of gastric cancers. |
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Entity | Endometrial cancer |
Note | The AA genotype of rs11196445b, the CC genotype of rs3124740, and the GG genotype of rs10787498 in the CASP7 gene were associated with increased risk compared with homozygotes of the major alleles, suggesting that genetic variants in CASP7 may play a role in endometrial cancer susceptibility in a Chinese population (Xu et al., 2009). |
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Entity | Renal carcinoma |
Note | Vilella-Arias et al. (2013) reported loss of CASP7 protein expression in renal cell carcinoma clear cell subtype (ccRCC) and this loss was associated with the agressiveness of ccRCC, suggesting the potential use of CASP7 as a prognostic marker. |
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Entity | Oral squamous cell carcinoma |
Note | Coutinho-Camillo et al. (2011) reported that high expression level of CASP7 protein was associated with poor prognosis in oral squamous cell carcinoma (OSCC) patients. |
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Entity | Alzheimer's disease |
Note | Elevated mRNA levels of caspases-7 and 8 measured by a quantitative PCR method were observed in the Alzheimer's disease (AD) temporal neocortex as compared to the control brains, suggesting that the transcriptional activation of key components of the apoptotic cascade correlates with accumulation of Abeta42. Thus, a principal caspase pathway from caspase-8 to caspase-3 and/or 7 may contribute to neuron loss in AD brain (Matsui et al., 2006). |
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Entity | Huntington's disease |
Note | Hermel et al. (2004) reported that caspase-7 immunoreactivity in post-mortem tissue from Huntington's disease (HD) patients is dramatically enhanced in the medium spiny neurons of the caudate nucleus and neurons in the putamen when compared to age-matched controls. Caspase-7 is able to bind full-length huntingtin (Htt), accelerating the production of Htt fragments and resulting in the eventual induction of apoptosis both in the neuronal processes and somata. |
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Entity | Rheumatoid arthritis |
Note | CASP-7 gene is associated with the susceptibility to rheumatoid arthritis (RA). Genotyping of three single nucleotide polymorphisms (SNPs) of the CASP7 gene: rs11593766 (G/T), rs2227310 (C/G) and rs2227309 (G/A) revealed that rs2227309 SNP was found to be associated with susceptibility to RA. Frequency of the G allele was significantly higher among RA patients and a higher frequency of GG homozygous individuals was found in the RA patient group (Garcia-Lozano et al., 2007). Teixeira et al. (2008) found that CASP7 rs2227309 SNP was not associated with RA in a European Caucasian population. Nevertheless, CASP7 isoforms alpha and beta could be involved in the apoptosis process in RA. |
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Entity | Insulin-dependent diabetes mellitus |
Note | Babu et al. (2003) studied 18 SNPs in CASP7 and reported that 1 (SNP144692) differed significantly in frequency in the haplotypes found in affected individuals compared to control Bedouin Arab family haplotypes. This same SNP showed evidence of association with diabetes in a subset of patients (DR3/DR4*0302) from Human Biological Data Interchange (HBDI) families, although these results are in conflict with other studies. |
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