Role of genetic polymorphisms of the RNASEL gene on familial prostate cancer risk in a Japanese population

Nakazato, Haruki; Suzuki, Kazuhiro; Matsui, Hiroshi; Ohtake, Nobuaki; Nakata, Seiji; Yamanaka, Hidetoshi

doi:10.1038/sj.bjc.6601075

Cited by 65 publications

(74 citation statements)

References 21 publications

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“…This is a much higher proportion than reported for prostate cancer with 13%. 13 In contrast to previous studies on familial prostate cancer 11,12,19,21 we did not find an association between the Arg462Gln genotypes and PC cancer risk in FPC. This might be caused by the lack of statistical power given the low number of the rare FPC cases analysed.…”

Section: Discussioncontrasting

confidence: 99%

“…Carpten et al 11 identified this variant in 3 of 330 men without prostate cancer and in 2 of 258 patients with sporadic prostate cancer, but it was not observed in another North American study with 438 familial prostate cancer patients and 510 controls 18 and was also not found a Japanese study with a 101 prostate cancer cases and 101 healthy controls, respectively. 19 Our findings are consistent with the current hypothesis that Glu265X is a rare founder allele (allele frequency <1%) in the Caucasian population. 11,12,18 Recent studies have implicated another RNASEL variant (Arg462Gln) in the development of prostate cancer, especially in familial prostate cancer.…”

Section: Discussionsupporting

confidence: 92%

“…2,17 It has been suggested recently that the RNA-SEL variants Glu265X and Arg462Gln are associated with an increased risk for sporadic 13 and familial prostate cancer. 11,12,[18][19][20] Carpten et al 11 first reported a Glu265X mutation that segregated with the disease in one of the HPC1-linked prostate cancer families. In patients with this alteration, nuclease activity in lymphoblasts was reported to be about half of that in non-carriers of the mutation, suggesting that this alteration results in complete loss of protein function.…”

Section: Discussionmentioning

confidence: 99%

“…11,12,18 Recent studies have implicated another RNASEL variant (Arg462Gln) in the development of prostate cancer, especially in familial prostate cancer. [11][12][13]18,19,21 It has been demonstrated that the RNASEL Arg462Gln variant has a decreased enzymatic activity causing a deficient ability to induce apoptosis. 13,20 The most significant and new finding of our present study is the association of any Arg462Gln genotype with a 2-fold risk for sporadic PC (OR 5 2.12, p 5 0.029), that increases to 3.5-fold for the homozygous Gln462 variant (OR 5 3.51, p 5 0.03).…”

Section: Discussionmentioning

confidence: 99%

“…This might be caused by the lack of statistical power given the low number of the rare FPC cases analysed. Even in familial prostate cancer it is yet not clarified whether the Arg462Gln genotype increases cancer risk, however, because some studies found an association 19 and FIGURE 2 -The missense alteration Arg462Gln (1385G fi A). Examples of wild-type, heterozygous and homozygous genotypes.…”

Section: Discussionmentioning

confidence: 99%

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RNASEL germline variants are associated with pancreatic cancer

Bartsch

Fendrich

Slater

et al. 2005

Intl Journal of Cancer

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The RNASEL (encoding ribonuclease L) gene Glu265X mutation has been implicated in familial prostate cancer, and an association between the RNASEL Arg462Gln variant and sporadic and familial prostate cancer, has also been suggested. Because prostate cancer occurs in some familial pancreatic cancer families, we evaluated the role of the RNASEL gene variants Glu265X and Arg462Gln in the etiology of pancreatic cancer. Exon 2 of the RNASEL gene was directly sequenced in the germline of 36 familial and 75 sporadic pancreatic cancer patients and in 108 controls. The Glu265X mutation was identified in one (2.8%) familial and one (1.3%) sporadic pancreatic cancer case, but not in any of the controls. Arg462Gln variants were identified in 61 (56%) controls and in 55 (73%) sporadic pancreatic cancer cases with 8 (7%) and 12 (16%) homozygotes, respectively (p 5 0.009). For homozygous carriers the increased risk for pancreatic cancer was 3.5 (odds ratio [OR] 5 3.53, 95% confidence interval [CI] 5 1.11-11.46, p 5 0.03). The population attributable fraction (PAF) was 38.7% (95% CI 5 0.08-0.80). In familial pancreatic cancer no association between Arg462Gln genotypes and pancreatic cancer risk was evident. In sporadic pancreatic cancer there were no significant differences between Arg462Gln genotypes regarding clinical characteristics. In familial pancreatic cancer, however, patients with Arg462Gln variants had more aggressive tumors with more high grade cancers (OR 5 15.40, p 5 0.009) and more distant metastases (OR 5 7.00, p 5 0.04) than patients with the wild-type genotype. Our results suggest that RNASEL variants Glu265X and Arg462Gln may contribute to the tumorigenesis of sporadic and familial pancreatic cancer, which has to be proven in large scale studies. ' 2005 Wiley-Liss, Inc.Key words: RNASEL; familial pancreatic cancer; sporadic pancreatic cancer Pancreatic cancer (PC) is the fifth leading cause of cancer death in Western countries with an overall 5-year survival rate of <5%. 1 The genetic basis of pancreatic cancer is complex and seems to involve multiple susceptibility genes. Epidemiological data suggest that dominant susceptibility genes may be responsible for about 3% of all pancreatic cancer cases. 2,3 BRCA2 germline mutations have been identified in 4.9% and 7.3% of apparently sporadic PC cases 4,5 and about 17% of and familial pancreatic cancer (FPC) cases, 6,7 respectively. There is also some evidence that mutations in CDKN2a, PRSS1, Mismatch-Repair and Fanconi anaemia genes predispose to PC, but the contribution of these genes to PC tumorigenesis is considered to be small. 8 The major underlying gene defect(s) of FPC are still unknown.The RNASEL (2 0 -5 0 oligoisoadenylate-synthetase dependent) gene located at chromosome 1q24-q25 plays a causal role in cell death by viral and non-viral stimuli and represents an important fragment of the apoptosis cascade. 9 The role of the ''2 0 -5 0 A-system'' in the control of cellular growth suggests that defects in this pathway could result in reduced immunity to virus...

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Section: Discussioncontrasting

confidence: 99%

Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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RNASEL germline variants are associated with pancreatic cancer

Bartsch

Fendrich

Slater

et al. 2005

Intl Journal of Cancer

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Peroxisome biogenesis occurs in late dorsal‐anterior structures in the development of Xenopus laevis

Cooper

Walsh

Damjanovski

2007

Developmental Dynamics

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RNASEL 1623A>C variant is associated with the risk of prostate cancer in African descendants

Wang

Yuan

Yue

et al. 2019

J of Cellular Biochemistry

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Association between ribonuclease L (RNASEL) gene 1623A>C polymorphism and prostate cancer (PCa) susceptibility has been assessed in large quantities of studies but with controversial conclusions. We undertook a pooled analysis containing 7397 PCa cases and 6088 control subjects to assess the correlation between RNASEL 1623A>C polymorphism and PCa risk. Moreover, we used enzyme-linked immunosorbent assay to test the serum RNASEL expression among patients enrolled in our centers and in-silico tools were also utilized. The overall results of our analysis indicated a positive relationship between 1623A>C variant and PCa risk (allelic contrast, odds ratio [OR] = 1.07; 95% confidence interval [CI] = 1.02-1.12; P heterogeneity = 0.575; CC vs AA, OR = 1.14;95% CI = 1.03-1.26; P heterogeneity = 0.217; CC + CA vs AA, OR = 1.10; 95% CI = 1.01-1.19; P heterogeneity = 0.303; and CC vs CA + AA, OR = 1.08; 95% CI = 1.00-1.17; P heterogeneity = 0.298). In ethnicity subgroup analysis, similar results were especially indicated in African descendants. In addition, serum RNASEL levels in PCa cases with CC + CA genotypes were higher than those with AA genotypes. Our present study showed evidence that RNASEL 1623A>C polymorphism is related to PCa risk, especially in African descendants. K E Y W O R D S enzyme-linked immunosorbent assay, genetic variation, polymorphism, prostate cancer, ribonuclease L

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Role of genetic polymorphisms of the RNASEL gene on familial prostate cancer risk in a Japanese population

Cited by 65 publications

References 21 publications

RNASEL germline variants are associated with pancreatic cancer

RNASEL germline variants are associated with pancreatic cancer

Peroxisome biogenesis occurs in late dorsal‐anterior structures in the development of Xenopus laevis

RNASEL 1623A>C variant is associated with the risk of prostate cancer in African descendants

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