OPN gene polymorphisms influence the risk of knee OA and OPN levels in synovial fluid in a Chinese population

Jiang, Yongqing; Yao, Meng; Liu, Qingpeng; Zhou, Can

doi:10.1186/ar4129

Cited by 24 publications

(23 citation statements)

References 35 publications

(36 reference statements)

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“…The polymorphic site -443 is associated with osteoarthritis risk and severity. Thrombin-cleaved osteopontin levels in the synovial fluid are lower in subjects with the -443T/T genotype, resulting in milder disease (25). In the present study the T allele was represented more frequently than the C allele at high tumor grade and in tumors with high osteopontin RNA levels (of note, for a subset of samples this result was confirmed by reanalysis in an external core facility to exclude the possibility of an erroneous data set).…”

Section: Discussionsupporting

confidence: 69%

An osteopontin promoter polymorphism is associated with aggressiveness in breast cancer

Ramchandani

Weber

2013

Oncology Reports

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Abstract. Metastasis-related genes are deregulated in cancer by aberrant expression or splicing. Here, we analyzed polymorphic sites in the osteopontin promoter as potential contributors to aberrant expression in breast cancers. This study comprised 241 breast cancer specimens, for which DNA from normal surrounding tissue was available for 111, and 65 healthy breast samples. The polymorphic site in position -443 of the promoter was associated with tumor grade. As expected, there was no association between promoter single nucleotide polymorphisms (SNPs) and tumor stage or in situ carcinoma versus cancer, as stage and early transformation are determined by the sampling time more than by tumor genetics. In a subset of samples, osteopontin RNA expression levels had previously been obtained. The allelic distribution in positions -443 and -1748 was distinct between high and low expressors, confirming the importance of promoter SNPs. These two sites also form a haplotype. Osteopontin expression has been associated with breast cancer progression, regardless of the histological subtype of the cancer. Remarkably, the polymorphic site at -443, but not -1748 or -1776, showed differences between ER-positive and ER-negative breast cancers and between PR-positive and PR-negative breast cancers, but there was no association with HER2 status. In five cases, the genotype of the tumor was different from the genotype of the host, implying the possibility of somatic mutations in the osteopontin promoter that may affect expression. Our results corroborate that the osteopontin promoter SNPs -443 (rs11730582) and -1748 (rs2728127) are important for gene expression and breast cancer aggressiveness.

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Section: Discussionsupporting

confidence: 69%

An osteopontin promoter polymorphism is associated with aggressiveness in breast cancer

Ramchandani

Weber

2013

Oncology Reports

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“…Reaction condition consisted of pre incubation at 50 °C for 2 min, at 95 °C for 10 min, and followed by 40 cycles of 95 °C for 15 s and 60 °C for 1 min. Amplifications were performed in an ABI Prism® 7500 Sequence Detection System (Applied Biosystems) [22]. …”

Section: Methodsmentioning

confidence: 99%

Polymorphism -433 C>T of the Osteopontin Gene is Associated with the Susceptibility to Develop Gliomas and their Prognosis in a Chinese Cohort

Shen

Chen²,

Hou

et al. 2014

Cell Physiol Biochem

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Aim: To investigate role of the Osteopontin (OPN) genetic polymorphisms in the susceptibility to gliomas and their prognosis. Methods: A total of 248 Chinese glioma patients and 281 age and sex matched healthy controls were recruited. The genetic polymorphisms at three loci, namely, -156 GG>G, -443 C>T and -66T>G, were determined. The log-rank test and Kaplan- Meier analysis were introduced to assess the effect of OPN gene polymorphisms on patient survival. Results: We found that the genotype frequencies of OPN -443 C>T polymorphism were significantly different between glioma patients and controls. Multivariable analyses showed a higher risk for gliomas in -443 CC genotype carriers compared to -443TT carriers (P<0.001). In addition, we also found the OPN -443 C>T polymorphism was closely related to the gliomas' tumor grade. The -443 C>T polymorphism also affected the tumor OPN expression level, but not the serum OPN level. More importantly, the -443 C>T polymorphism was significantly associated with the prognosis of these patients regardless of their treatment status. The patients with -443CC genotype had a poorer prognosis than those with -443TT and -443CT genotypes. In contrast, the -156 G>GG and -66T>G polymorphisms were not associated with risk, clinical characteristics, or prognosis of gliomas. Conclusion: This study suggests that the -443C>T gene polymorphisms may be used as a molecular marker for glioma occurrence and clinical outcome in glioma patients. © 2014 S. Karger AG, Basel

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“…Therefore, rs17524488 and rs11730582 may have different effects on disease risk, although both of them have been shown to be able to modify SPP1 expression in vitro. Recently, another study by Jiang et al reported significant associations of rs11730582 and rs28357094, but not rs17524488, in SPP1 gene with knee OA risk (Jiang et al, 2013). It is hard to explain exactly the reason for such differences, but some hints can be found in these two studies.…”

Section: Discussionmentioning

confidence: 96%

Association of SPP1 promoter variants with hip osteoarthritis susceptibility in Chinese population

et al. 2015

Gene

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OPN gene polymorphisms influence the risk of knee OA and OPN levels in synovial fluid in a Chinese population

Cited by 24 publications

References 35 publications

An osteopontin promoter polymorphism is associated with aggressiveness in breast cancer

An osteopontin promoter polymorphism is associated with aggressiveness in breast cancer

Polymorphism -433 C>T of the Osteopontin Gene is Associated with the Susceptibility to Develop Gliomas and their Prognosis in a Chinese Cohort

Association of SPP1 promoter variants with hip osteoarthritis susceptibility in Chinese population

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