Dataset Information

EFEMP1 rs3791679 polymorphism was associated with susceptibility to glioma.

ABSTRACT: We conducted a case-control study in a Chinese population, and investigated the association between four SNPs (rs3791679, rs1346786, rs1344733 and rs727878) in EFEMP1 and development of glioma. A case-control study was taken in the present study. The rs3791679, rs1346786, rs1344733 and rs727878 gene polymorphisms were analyzed using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. A total of 159 patients with glioma and 364 controls were collected between July 2012 and June 2014. By unconditional logistic regression analysis, we found that individuals carrying the AA genotype and GA+AA genotype were associated with development of glioma when compared with the GG genotype, and the adjusted ORs (95% CI) were 2.13 (1.15-3.90) and 1.55 (1.04-2.32), respectively. However, we did not find that rs1346786, rs1344733 and rs727878 were significantly associated with development of glioma. Moreover, we found that the GA+AA genotype of rs3791679 was associations with a heavy increased risk of glioma in patients who have family history of cancers, and the OR (95% CI) was 6.81 (1.17-48.06). The results of our study suggested an association between the rs3791679 polymorphism and an elevated risk of glioma, especially in those with family history of glioma.

SUBMITTER: Qin G

PROVIDER: S-EPMC4713656 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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EFEMP1 rs3791679 polymorphism was associated with susceptibility to glioma.

Qin Guoqiang G Qi Songtao S Lu Dan D Yu Jiangjun J Huang Weimin W Yu Lei L

International journal of clinical and experimental pathology 20151101 11

We conducted a case-control study in a Chinese population, and investigated the association between four SNPs (rs3791679, rs1346786, rs1344733 and rs727878) in EFEMP1 and development of glioma. A case-control study was taken in the present study. The rs3791679, rs1346786, rs1344733 and rs727878 gene polymorphisms were analyzed using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. A total of 159 patients with glioma and 364 controls were collected between Ju ...[more]

PMID: 26823870

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Project description:ObjectiveSingle-nucleotide polymorphism (SNP) rs143383 (T to C) in the 5'-untranslated region (5'-UTR) of GDF5 has recently been reported to be associated with osteoarthritis (OA) susceptibility, with lower expression of the risk-associated T allele observed in vitro and in vivo. The in vivo studies were performed on cartilage tissue from OA patients. The present study was undertaken to expand the analysis of the effect of this SNP on GDF5 allelic expression to more joint tissue types, to investigate for cis and trans factors that interact with the SNP, and to examine novel cis-acting GDF5 regulatory polymorphisms.MethodsTissue samples were collected from OA patients undergoing joint replacement of the hip or knee. Nucleic acid was extracted, and, using rs143383 and an assay that discriminates and quantifies allelic expression, the relative amount of GDF5 expression from the T and C alleles was measured. Additional common variants in the GDF5 transcript sequence were interrogated as potential regulatory elements using allelic expression and luciferase reporter assays, and electrophoretic mobility shift assays were used to search for trans factors binding to rs143383.ResultsWe observed a consistent allelic expression imbalance of GDF5 in all tissues tested, implying that the functional effect mediated by rs143383 on GDF5 expression is joint-wide. We identified a second polymorphism, located in the 3'-UTR of GDF5, that influenced allelic expression of the gene independent of rs143383. Finally, we observed differential binding of deformed epidermal autoregulatory factor 1 (DEAF-1) to the 2 alleles of rs143383.ConclusionThese findings show that the OA susceptibility mediated by polymorphism in GDF5 is not restricted to cartilage, emphasizing the need to consider the disease as involving the whole joint. The existence of an additional cis-acting regulatory polymorphism highlights the complexity of the regulation of expression of this important OA susceptibility locus. DEAF-1 is a trans-acting factor that merits further investigation as a potential tool for modulating GDF5 expression.

Dataset Information

EFEMP1 rs3791679 polymorphism was associated with susceptibility to glioma.

Publications

EFEMP1 rs3791679 polymorphism was associated with susceptibility to glioma.

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