Polymorphisms in genes related to activation or detoxification of carcinogens might interact with smoking to increase renal cancer risk: results from The Netherlands Cohort Study on diet and cancer

Smits, Kim M.; Schouten, Leo J.; Dijk, Boukje A. C. van; Houwelingen, Kjeld van; Kaa, C.A. van de; Kiemeney, Lambertus A.; Goldbohm, R. Alexandra; Oosterwijk, Egbert; Brandt, Piet A. van den

doi:10.1007/s00345-007-0220-5

Cited by 11 publications

(10 citation statements)

References 23 publications

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“…There is the possibility that ADH7 (rs1154454) may have a direct influence on the association between alcohol intake and RCC risk, or may be in high linkage disequilibrium with the variant responsible for the effect modification . We are not aware of any published report on gene–alcohol interaction in RCC, although interaction between gene variants and other risk factors of RCC (e.g., smoking, hypertension, vitamin D status and meat‐related carcinogens) have been reported . Because the observed gene–alcohol interaction is novel, additional studies are needed to validate the findings and evaluate interaction with a wider spectrum of SNPs in alcohol metabolizing genes.…”

Section: Discussionmentioning

confidence: 99%

Alcohol consumption, variability in alcohol dehydrogenase genes and risk of renal cell carcinoma

Antwi¹,

Eckel‐Passow²,

Diehl³

et al. 2017

Intl Journal of Cancer

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Alcohol consumption has been associated inversely with renal cell carcinoma (RCC) risk; however, no study has examined effect modification by germline variation in alcohol-metabolizing genes. We investigated whether the association between alcohol intake and RCC risk is modulated by germline variants in alcohol dehydrogenase genes in a large case-control study. Data from 652 RCC cases and 1,366 non-cancer controls were analyzed. Alcohol intake was assessed using a standardized risk factor questionnaire. Three previously genotyped polymorphisms in ADH6 and ADH7 with the TaqMan assay were examined. Odds ratios (ORs) and 95% confidence interval (CI) were calculated using logistic regression, adjusting for covariates. Compared to non-drinkers, ever consumption of alcohol was associated with lower RCC risk (OR = 0.52, 95% CI = 0.42-0.65). Analysis with cubic spline regression curve showed a "J-shaped" relationship between alcohol drinks/day and RCC risk, such that there was no added benefit against RCC for consumption of more than two drinks/day. We observed effect modification by variation in rs1154454 (ADH7) (p = 0.007); a per unit increase in alcohol drink/day was associated with 35% lower RCC risk among non-minor allele carriers, a 27% lower risk among those who carry one copy of the minor allele, but no association was observed among those with two copies of the minor allele. These findings indicate that alcohol consumption is associated with lower RCC risk. Consuming more than two drinks a day does not confer additional protection against RCC. The association between alcohol intake and RCC risk appears to be modulated by inter-individual germline variation in alcohol-metabolizing genes.

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Section: Discussionmentioning

confidence: 99%

Alcohol consumption, variability in alcohol dehydrogenase genes and risk of renal cell carcinoma

Antwi¹,

Eckel‐Passow²,

Diehl³

et al. 2017

Intl Journal of Cancer

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“…CpG dinucleotides are commonly mutated in genetic diseases [Kinzler and Vogelstein, 1996] and are often the result of methylation or spontaneously deamination of cytosine and 5-methylcytosine becoming uracil or thymine (thus causing G:C to A:T transition), respectively [Duncan and Miller, 1980]. Methylation of the VHL promoter is a common mechanism of inactivation (8-11%) in sporadic RCC [Herman et al, 1994;Nickerson et al, 2008;Smits et al, 2008]. Dinucleotide CpG hotspot mutations were found in both Japanese and Caucasian patients; however, the incidence was lower in Japanese patients [Yoshida et al, 2000].…”

Section: Ethnic Diversitymentioning

confidence: 99%

Genetic analysis of von Hippel-Lindau disease

et al. 2010

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Mutations in the von Hippel-Lindau (VHL) gene are responsible for VHL disease, congenital polycythemia, and are found in many sporadic tumor types as well. Reports of VHL mutations are dispersed throughout original articles and databases that have not been recently updated. We compiled a comprehensive mutation table of 1,548 germline and somatic VHL mutations, derived from this protein of only 213 amino acids. We describe detailed phenotype and gene mutation information for 945 VHL families, including 30 previously unpublished kindreds from The Netherlands (six novel mutations). These data represent the most extensive catalog of germline VHL mutations to date. We also review VHL disease, known and theorized pathogenesis of common VHL manifestations, and genotype-phenotype correlations. Analysis of all VHL families, excluding germline mutations resulting in congenital polycythemias, describes the spectrum of mutation types: 52% missense, 13% frameshift, 11% nonsense, 6% in-frame deletions/insertions, 11% large/complete deletions, and 7% splice mutations. This easy-to-use compilation of VHL mutations is intended to facilitate research and function as a necessary adjunct for physicians when providing patient information. Hum Mutat 31:521-537,

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“…Within this family of genes, GSTM1 and GSTT1 are most frequently studied in relation to renal cell cancer, and are active in the detoxification of polycyclic aromatic hydrocarbons in tobacco smoke and halogenated solvents. Studies of the main effects of GSTM1 and GSTT1 have not produced consistent association with renal cell cancer,157–162 although the largest study with 925 cases and 1247 control subjects found no association 160. When examined with environmental exposures, several studies reported differences in risk in subgroups defined by genotype status.…”

Section: Genetic Susceptibility and Environmentmentioning

confidence: 99%

“…Polymorphisms in genes encoding other Phase I (activation) and Phase II (detoxification) metabolic enzymes and their interaction with environmental exposures on renal cell cancer risk have also been examined, including GSTP1 , NAT2 , CYP1A1 , CYP1B1 , CYP2E1 , CYP2D6 , and NQ01 157,158,160–162,165–167. Of the few studies that have examined GSTP1, no main effect of the gene was observed, but some suggested interactions with other genes to influence cancer risk 157,158,160,161.…”

Section: Genetic Susceptibility and Environmentmentioning

confidence: 99%

Contemporary Epidemiology of Renal Cell Cancer

2008

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We analyzed renal cell cancer incidence patterns in the United States and reviewed recent epidemiologic evidence with regard to environmental and host genetic determinants of renal cell cancer risk. Renal cell cancer incidence rates continued to rise among all racial/ethnic groups in the United States, across all age groups, and for all tumor sizes, with the most rapid increases for localized stage disease and small tumors. Recent cohort studies confirmed the association of smoking, excess body weight, and hypertension with an elevated risk of renal cell cancer, and suggested that these factors can be modified to reduce the risk. There is increasing evidence for an inverse association between renal cell cancer risk and physical activity and moderate intake of alcohol. Occupational exposure to TCE has been positively associated with renal cell cancer risk in several recent studies, but its link with somatic mutations of the VHL gene has not been confirmed. Studies of genetic polymorphisms in relation to renal cell cancer risk have produced mixed results, but genome-wide association studies with larger sample size and a more comprehensive approach are underway. Few epidemiologic studies have evaluated risk factors by subtypes of renal cell cancer defined by somatic mutations and other tumor markers. Keywords renal cell cancer; incidence trends; cohort studies; smoking; obesity; hypertension; diet; occupation; genetic polymorphism; somatic mutation Malignant tumors of the kidney account for about 4% of cancer incidence and 2% of cancer mortality in the United States, with over 54,000 new cases and 13,000 deaths having been estimated for 2008. 1 More than 85% of kidney cancers arise in the renal parenchyma, with the remainder arising in the renal pelvis. 2 Renal pelvis cancer is mostly of the transitional cell type and is not the focus of this review. Nearly all cancers originating in the renal parenchyma are adenocarcinomas (renal cell carcinoma), in which clear cell is the predominant subtype. 3 The remainder is made up of the papillary type and other rare histologic types, such as collecting duct and chromophobe carcinomas. 3,4 Distinct morphologic and genetic characteristics have also been described for renal cell carcinoma in familial cancer syndromes. [5][6][7] Descriptive and analytic epidemiologic studies in general have not distinguished the subtypes of renal cell carcinoma, except for studies involving the von Hippel-Lindau (VHL) gene mutation that is seen primarily in the clear cell type. 8 Since the clear cell type comprises 85% to 90% of renal cell carcinoma, 3 the epidemiology of renal cell carcinoma is strongly influenced by that of the clear cell type.* Correspondence: Wong-Ho Chow, National Cancer Institute, 6120 Executive Blvd, EPS 8100, Bethesda, Maryland 20892-7240, USA. choww@mail.nih.gov. NIH Public Access Author ManuscriptCancer J. Author manuscript; available in PMC 2011 April 15. DESCRIPTIVE EPIDEMIOLOGY Incidence patterns and temporal trendsIncidence rates of renal cell carcinoma h...

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Polymorphisms in genes related to activation or detoxification of carcinogens might interact with smoking to increase renal cancer risk: results from The Netherlands Cohort Study on diet and cancer

Cited by 11 publications

References 23 publications

Alcohol consumption, variability in alcohol dehydrogenase genes and risk of renal cell carcinoma

Alcohol consumption, variability in alcohol dehydrogenase genes and risk of renal cell carcinoma

Genetic analysis of von Hippel-Lindau disease

Contemporary Epidemiology of Renal Cell Cancer

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