Association of common missense changes in ELAC2 (HPC2) with prostate cancer in a Japanese case–control series

Fujiwara, Hiromichi; Emi, Mitsuru; Nagai, Hisaki; Nishimura, Takuya; Konishi, Noboru; Kubota, Yoshinobu; Ichikawa, Tomohiko; Takahashi, Satoru; Shuin, Taro; Habuchi, Tomonori; Ogawa, Osamu; Inoue, Katsuki; Skolnick, Mark H.; Swensen, Jeff; Camp, Nicola J.; Tavtigian, Sean V.

doi:10.1007/s100380200099

Cited by 23 publications

(18 citation statements)

References 11 publications

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“…PIN is predictive of an increased risk for prostate cancer, adding further support to the relationship between HPC2 gene variants and disease. Our study identified an association between HPC2 variants and incident prostate cancer, as previously reported (Tavtigian et al 2000;Rebbeck et al 2000;Suarez et al 2001;Fujiwara et al 2002). Others studies have not found this association (Wang et al 2001;Xu et al 2001;Vesprini et al 2001;Ro¨kman et al 2001;Shea et al 2002;Meitz et al 2002).…”

Section: Discussionsupporting

confidence: 88%

“…A study of Afro-Caribbean males from Tobago found no significant difference in HPC2 allele frequencies between cases and controls (Shea et al 2002). A case-control study from Japan determined that both HPC2 alleles were associated with significantly increased risk for prostate cancer (Leu217, P=0.0012; Thr541, P=0.0145) (Fujiwara et al 2002). A recent study from the United Kingdom found no significant difference in the Thr541 variant and incident prostate cancer cases (Meitz et al 2002).…”

Section: Introductionmentioning

confidence: 99%

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HPC2/ELAC2 gene variants associated with incident prostate cancer

et al. 2003

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The HPC2/ELAC2 gene on chromosome 17p11 was identified as a candidate gene for hereditary prostate cancer (HPC) susceptibility. Two HPC2 gene missense variants, Ser217Leu (Leu217) and Ala541Thr (Thr541) have been associated with incident prostate cancer cases in some studies, but not in others. 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. The Thr541 variant showed linkage disequilibrium with the Leu217 variant. The number of Leu217 homozygotes in the case and control groups (8.6versus 8.5%) was not statistically different. Leu217 carrier status was associated with prostate cancer risk (cases 61.8% versus controls 50.3%) (OR 1.6, 95% CI 1.15-2.23). Additional analysis found that this association was not due to the co-existence of Thr541 variant (OR1.59, P=0.009). Logistic regression found that the relationship between the log odds of being a Thr541carrier and age depends on case/control status. Thr541 carriers had an increased risk for late-onset prostate cancer (P=0.028). Prostate intraepithelial neoplasia (PIN) was more common in the Leu217 allele carriers compared to non-carriers (42.3 versus 26.7%) (OR 2.05, 95% CI 1.10-3.83), and in the Thr541 carriers compared to non-carriers (50.0 versus 34.6%) (OR 1.89, 95% CI 0.75-4.78). In summary, the HPC2 gene variants Leu217 and Thr541 were associated with an increased risk for prostate cancer and for PIN in males undergoing radical prostatectomies in the Calgary region.

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Section: Discussionsupporting

confidence: 88%

Section: Introductionmentioning

confidence: 99%

HPC2/ELAC2 gene variants associated with incident prostate cancer

et al. 2003

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“…Coefficients of skewness and kurtosis were calculated to test deviation from a normal distribution. Because clinical and biochemical traits in each genotypic group did not always distribute normally, we applied a nonparametric Mann-Whitney test or analysis of variance (ANOVA) with linear regression analysis as a post hoc test (p 0.05) to compare those traits among groups divided by a SNP 15) . Chi-square test was used to confirm Hardy-Weinberg equilibrium among genotypes (p 0.05).…”

Section: Discussionmentioning

confidence: 99%

Genetic Association of Low-density Lipoprotein Receptor-related Protein 2 (LRP2) with Plasma Lipid Levels

Mii

Nakajima

Fujita

et al. 2007

JAT

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Aim: Not all genetic factors predisposing phenotypic features of dyslipidemia have been identified. We studied the association between the low density lipoprotein-related protein 2 gene (LRP2) and levels of plasma total cholesterol (T-Cho) and LDL-cholesterol (LDL-C) among 352 adults in Japan. Methods: Subjects were obtained from among participants in a cohort study that was carried out with health-check screening in an area of east-central Japan. We selected 352 individuals whose LDL-C levels were higher than 140 mg/dL from the initially screened 22,228 people. We assessed the relation between plasma cholesterol levels and single-nucleotide polymorphisms (SNPs) in the LRP2 gene.

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“…Coefficients of skewness and kurtosis were calculated to test deviation from a normal distribution. Because the clinical and biochemical (Fujiwara et al 2002). FisherÕs exact test was used to compare differences in the prevalence of hypercholesterolemia among the population.…”

Section: Discussionmentioning

confidence: 99%

Hypercholesterolemia associated with splice-junction variation of inter-α-trypsin inhibitor heavy chain 4 (ITIH4) gene

et al. 2003

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Factors predisposing to the phenotypic features of higher total cholesterol (T-Cho) have not been clearly defined. Here we report an association between a C/T single nucleotide polymorphism at IVS17+8 in the inter-alpha-trypsin inhibitor heavy chain 4 gene (ITIH4) and plasma total cholesterol levels in 351 adult individuals from an east-central area of Japan. Age and gender-adjusted levels of plasma T-Cho, LDL-cholesterol, triglyceride, and HDL-cholesterol were analyzed. When we separate the subjects into two genotypic groups regarding this single nucleotide polymorphism (SNP), those who lack the T-allele had significantly higher plasma T-Cho levels than the others who bear T-allele (mean 252.3 mg/dl versus 241.7 mg/dl; p=0.009). Of the 309 individuals without the T-allele, approximately 90% presented with hypercholesterolemia, whereas only 10% were hypercholesterolemic among 42 individuals with the T-allele (p <0.0001). These data suggest that genetic variation at ITIH4 locus is one of the likely candidate determinants for plasma cholesterol metabolisms.

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Association of common missense changes in ELAC2 (HPC2) with prostate cancer in a Japanese case–control series

Cited by 23 publications

References 11 publications

HPC2/ELAC2 gene variants associated with incident prostate cancer

HPC2/ELAC2 gene variants associated with incident prostate cancer

Genetic Association of Low-density Lipoprotein Receptor-related Protein 2 (LRP2) with Plasma Lipid Levels

Hypercholesterolemia associated with splice-junction variation of inter-α-trypsin inhibitor heavy chain 4 (ITIH4) gene

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