ELAC2, elaC ribonuclease Z 2, 60528

N. diseases: 40; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE The present study suggested that the common variants in the HPC2/ELAC2 gene play a limited role in the risk of prostate cancer in the Japanese population. 12552947 2003
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE The product of the candidate prostate cancer susceptibility gene ELAC2 interacts with the gamma-tubulin complex. 12569551 2003
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE The results of this study lead us to reject the three alternative hypotheses of (1) a highly penetrant, major prostate cancer-susceptibility gene at 17p11, (2) the allelic variants Leu217 or Thr541 of HPC2/ELAC2 as high-penetrance mutations, and (3) the variants Leu217 or Thr541 as low-penetrance, risk-modifying alleles. 11254448 2001
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE The Thr541 variant in the HPC2/ELAC2 gene has previously been reported to be at an increased frequency in prostate cancer cases. 12373607 2002
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE There is no evidence that either ELAC2 polymorphism is associated with prostate cancer or PSA level. 12783937 2003
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE There is, however, little evidence for excess clustering of the T allele within the multiplex families known to be segregating this allele, and there is no evidence for linkage of prostate cancer to the HPC2/ELAC2 region of chromosome 17p11.2 in these families. 11431329 2001
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE These results suggest that common variants at HPC2/ELAC2 are associated with CaP risk in a sample unselected for family history or other factors associated with CaP risk. 10986046 2000
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE This meta-analysis showed evidence that ELAC2 Ser217Leu and Ala541Thr polymorphisms were associated with prostate cancer risk, and might be low-penetrance susceptibility markers of prostate cancer. 20231859 2010
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE To determine the contribution of two HPC2/ELAC2 missense variants (Ser217Leu and Ala541Thr) to the risk of developing prostate cancer, we conducted a population-based case-control study of middle-aged men (40-64 years). 14504198 2003
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 Biomarker disease BEFREE We analyzed 39 clinical prostate cancer specimens, 10 prostate cancer xenografts (LuCaP series), and 4 prostate cancer cell lines (LNCaP, DU145, PC-3, and MPC-3) for genetic changes using denaturing high-performance liquid chromatography and direct sequencing in order to screen the whole coding regions of RNASEL and MSR1, as well as exons 7 and 17 of ELAC2. 14695991 2004
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE We carried out positional cloning and mutation screening within the refined interval, identifying a gene, ELAC2, harboring mutations (including a frameshift and a nonconservative missense change) that segregate with prostate cancer in two pedigrees. 11175785 2001
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 Biomarker disease BEFREE We conclude that HPC2 genotyping is unlikely to be a useful adjunct to PSA in the prediction of the presence of biopsy-detected prostate cancer in asymptomatic men. 11254449 2001
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X, aIVS5-59c), and RNASEL (E265X, R462Q, D541E) in 150 European-Americans with metastatic prostate cancer and 170 prostate cancer-free controls using pyrosequencing assays. 16114055 2006
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 Biomarker disease BEFREE We genotyped eight tagging SNPs in ELAC2 to test for the association between sequence variances in ELAC2 and prostate cancer. 18375959 2008
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE We tested for possible associations between the two HPC2 gene variants and prostate cancer risk in incident prostate cancer cases (199) and healthy male controls (525) from the Calgary region. 14625808 2003