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  • 1
    Keywords: EXPRESSION ; carcinoma ; CELL ; Germany ; neoplasms ; EXPOSURE ; RISK ; GENE ; GENES ; DNA ; GENETIC POLYMORPHISMS ; SKIN ; ASSOCIATION ; FREQUENCY ; polymorphism ; POLYMORPHISMS ; single nucleotide polymorphism ; FREQUENCIES ; BREAST-CANCER ; PROMOTER ; PROMOTERS ; AGE ; SNP ; REGION ; GENOTYPES ; REGIONS ; POLYMERASE-CHAIN-REACTION ; case-control studies ; IMMUNE-RESPONSE ; basal cell carcinoma ; CELL CARCINOMA ; case-control study ; RE ; SINGLE NUCLEOTIDE POLYMORPHISMS ; SNPs ; RHEUMATOID-ARTHRITIS ; INFLAMMATORY CYTOKINES ; case control studies ; INTERVAL ; single-nucleotide ; PROMOTER REGION ; GENOMIC DNA ; female ; ALLELE FREQUENCIES ; odds ratio ; genomic ; interleukin ; SQUAMOUS-CELL ; ALLELE-FREQUENCY ; PRIMERS ; ENVIRONMENTAL-FACTORS ; SUN EXPOSURE ; allele-specific primers ; CUTANEOUS BASAL ; DNA pooling ; heterosis ; LARGE-SCALE ASSOCIATION ; quantitative sequencing
    Abstract: Background Basal cell carcinoma (BCC) is one of the most common neoplasms in the world. Development of BCC is associated with environmental factors (especially sun exposure) as well as heritable factors. Objectives To analyse three single nucleotide polymorphisms (SNPs) in the promoter regions of interleukin (IL) genes in genomic DNA from 527 cases of BCC and 530 matched controls and to examine if DNA pooling is a useful method on which to base decisions regarding further SNP analysis. Methods The SNPs analysed were IL6-597, IL10-1082 and IL1B-511. The SNPs were first analysed from pooled DNA and afterwards from individual samples. The DNA pools resulted from a division of the samples into cases and controls, female and male, and three age groups. In these pools the allele frequencies were estimated by two methods, real-time polymerase chain reaction with allele-specific primers, and quantitative sequencing. Results No significant association was found when the allele frequencies in cases and controls were compared. However, by analysis of the individual genotypes we found SNP IL6-597 G/A to be significantly associated with BCC risk (P = 0.007). Hereby the heterozygous genotype 'GA' had a protective effect (odds ratio 0.64, 95% confidence interval 0.49-0.84). No significant association was found for IL10-1082 and IL1B-511. Conclusions The association of SNP IL6-597 with BCC could be found only by individual genotyping, but would have been missed if only data from the pooling analysis had been known
    Type of Publication: Journal article published
    PubMed ID: 17107380
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  • 2
    Keywords: DOWN-REGULATION ; CELL-CARCINOMA ; PULMONARY-FIBROSIS ; COMMON VARIANTS ; RECOMBINATION HOTSPOTS ; CHROMOSOME 8Q24 ; CONFERS SUSCEPTIBILITY ; UDP-GLUCURONOSYLTRANSFERASES ; TELOMERASE MUTATIONS ; SEQUENCE VARIANT
    Abstract: We conducted a multi-stage, genome-wide association study of bladder cancer with a primary scan of 591,637 SNPs in 3,532 affected individuals (cases) and 5,120 controls of European descent from five studies followed by a replication strategy, which included 8,382 cases and 48,275 controls from 16 studies. In a combined analysis, we identified three new regions associated with bladder cancer on chromosomes 22q13.1, 19q12 and 2q37.1: rs1014971, (P = 8 x 10(-12)) maps to a non-genic region of chromosome 22q13.1, rs8102137 (P = 2 x 10(-11)) on 19q12 maps to CCNE1 and rs11892031 (P = 1 x 10(-7)) maps to the UGT1A cluster on 2q37.1. We confirmed four previously identified genome-wide associations on chromosomes 3q28, 4p16.3, 8q24.21 and 8q24.3, validated previous candidate associations for the GSTM1 deletion (P = 4 x 10(-11)) and a tag SNP for NAT2 acetylation status (P = 4 x 10(-11)), and found interactions with smoking in both regions. Our findings on common variants associated with bladder cancer risk should provide new insights into the mechanisms of carcinogenesis.
    Type of Publication: Journal article published
    PubMed ID: 20972438
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  • 3
    Keywords: CANCER ; CELLS ; EXPRESSION ; POPULATION ; GENES ; TUMORS ; CARCINOGENESIS ; ASSOCIATION ; PROGRESSION ; DNA-REPAIR ; COLORECTAL-CANCER ; CANCER-CELLS ; GASTRIC-CANCER ; SINGLE NUCLEOTIDE POLYMORPHISMS ; HAPLOTYPE ; host ; MULTIFACTOR-DIMENSIONALITY REDUCTION ; CANCER-RELATED INFLAMMATION
    Abstract: Basal cell carcinoma (BCC) of the skin is the most common neoplasm among the Caucasian population of the Western world. Inflammation may result in oxidative stress and contribute to promotion and progression of tumors, including BCC. The role of cytokines, which are inflammatory modulators, in the biology of tumors has been extensively studied and it is well known that they are aberrantly produced by cancer cells, macrophages, and other phagocytic cells. Genetic polymorphisms are known in several cytokine genes, which result in altered expression. In the present association study we investigated the association of 14 functional polymorphisms in 11 cytokines genes with BCC risk in 529 BCC cases and 532 healthy controls. We have also tested the possible interactions between the genetic variants and three known risk factors for BCC: skin complexion, sun effect and skin response to sun exposure. We did not observe any statistically significant association between SNPs and BCC risk. However we found that, in a subgroup of subjects more prone to skin burns, carriers of at least one copy of the G allele of rs1800629 (TNF) had an increased risk of BCC (OR=2.40, 95% CI 1.38-4.16, P=0.0005). Moreover in subjects less prone to sun burns we observed that carriers of the C allele of rs1143627 (IL1B) showed a decreased risk (OR=0.53, 95% CI 0.34-0.82, P=0.0019). In conclusion, we found that two polymorphisms in inflammatory genes interacting with environmental risk factors could modulate BCC risk.
    Type of Publication: Journal article published
    PubMed ID: 21880580
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  • 4
    Keywords: RISK ; POLYMORPHISMS ; smoking ; DNA-REPAIR GENES ; TRANSITIONAL-CELL CARCINOMA ; LOCI ; CHINESE POPULATION ; SEQUENCE VARIANTS ; CONFERS SUSCEPTIBILITY ; FLUID INTAKE
    Abstract: Three genome-wide association studies in Europe and the USA have reported eight urinary bladder cancer (UBC) susceptibility loci. Using extended case and control series and 1000 Genomes imputations of 5 340 737 single-nucleotide polymorphisms (SNPs), we searched for additional loci in the European GWAS. The discovery sample set consisted of 1631 cases and 3822 controls from the Netherlands and 603 cases and 37 781 controls from Iceland. For follow-up, we used 3790 cases and 7507 controls from 13 sample sets of European and Iranian ancestry. Based on the discovery analysis, we followed up signals in the urea transporter (UT) gene SLC14A. The strongest signal at this locus was represented by a SNP in intron 3, rs17674580, that reached genome-wide significance in the overall analysis of the discovery and follow-up groups: odds ratio = 1.17, P = 7.6 x 10(-11). SLC14A1 codes for UTs that define the Kidd blood group and are crucial for the maintenance of a constant urea concentration gradient in the renal medulla and, through this, the kidney's ability to concentrate urine. It is speculated that rs17674580, or other sequence variants in LD with it, indirectly modifies UBC risk by affecting urine production. If confirmed, this would support the 'urogenous contact hypothesis' that urine production and voiding frequency modify the risk of UBC
    Type of Publication: Journal article published
    PubMed ID: 21750109
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  • 5
    Keywords: POPULATION ; METABOLISM ; CARCINOGENESIS ; mechanisms ; HEALTH ; METHYLATION ; PERSPECTIVE ; TOXICOLOGY ; BASAL-CELL CARCINOMA ; BANGLADESH
    Abstract: Occupational studies show a high risk of lung cancer related to arsenic exposure by inhalation; however, only a few studies, and with conflicting results, previously examined a potential link between arsenic exposure at work and skin cancer. The aim of this study is to assess airborne arsenic exposures at the workplace and to quantify associations with nonmelanoma skin cancer (NMSC). The study sample consists of 618 incident cases of NMSC and 527 hospital-based controls aged 30-79 years from Hungary, Romania and Slovakia. Exposures were evaluated by local experts using occupational histories. Information on host factors and other exposures was collected and used to adjust the associations of interest using multivariable logistic regression. The lifetime prevalence of exposure to work-related arsenic is 23.9% for cases and 15.5% for controls. No significant association between arsenic exposure in the workplace and NMSC was detected, although an increased adjusted odd ratio was observed for participants with higher cumulative lifetime workplace exposure to arsenic in dust and fumes compared to referents [odds ratios (OR) = 1.94, 95% confidence interval (CI) = 0.76-4.95]. There is evidence for modification of the workplace arsenic-NMSC association by work-related sunlight exposure in women, with a markedly increased adjusted OR in the presence of workplace sunlight exposure (OR = 10.22, 95% CI = 2.48-42.07). Workplace coexposure to arsenic and sunlight may thus pose an increased risk of NMSC.
    Type of Publication: Journal article published
    PubMed ID: 23595521
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  • 6
    Keywords: CANCER ; SKIN ; ASSOCIATION ; SUSCEPTIBILITY ; HUMAN GENOME ; inflammation ; COMPLEX DISEASES ; METAANALYSIS ; COMMON VARIANTS ; TRANSGLUTAMINASE 3
    Abstract: To search for new sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conducted a genome-wide association study of 38.5 million single nucleotide polymorphisms (SNPs) and small indels identified through whole-genome sequencing of 2230 Icelanders. We imputed genotypes for 4208 BCC patients and 109 408 controls using Illumina SNP chip typing data, carried out association tests and replicated the findings in independent population samples. We found new BCC susceptibility loci at TGM3 (rs214782[G], P = 5.5 x 10(-17), OR = 1.29) and RGS22 (rs7006527[C], P = 8.7 x 10(-13), OR = 0.77). TGM3 encodes transglutaminase type 3, which plays a key role in production of the cornified envelope during epidermal differentiation.
    Type of Publication: Journal article published
    PubMed ID: 24403052
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  • 7
    Abstract: Candidate gene and genome-wide association studies (GWAS) have identified 15 independent genomic regions associated with bladder cancer risk. In search for additional susceptibility variants, we followed up on four promising single-nucleotide polymorphisms (SNPs) that had not achieved genome-wide significance in 6911 cases and 11 814 controls (rs6104690, rs4510656, rs5003154 and rs4907479, P 〈 1 x 10(-6)), using additional data from existing GWAS datasets and targeted genotyping for studies that did not have GWAS data. In a combined analysis, which included data on up to 15 058 cases and 286 270 controls, two SNPs achieved genome-wide statistical significance: rs6104690 in a gene desert at 20p12.2 (P = 2.19 x 10(-11)) and rs4907479 within the MCF2L gene at 13q34 (P = 3.3 x 10(-10)). Imputation and fine-mapping analyses were performed in these two regions for a subset of 5551 bladder cancer cases and 10 242 controls. Analyses at the 13q34 region suggest a single signal marked by rs4907479. In contrast, we detected two signals in the 20p12.2 region-the first signal is marked by rs6104690, and the second signal is marked by two moderately correlated SNPs (r(2) = 0.53), rs6108803 and the previously reported rs62185668. The second 20p12.2 signal is more strongly associated with the risk of muscle-invasive (T2-T4 stage) compared with non-muscle-invasive (Ta, T1 stage) bladder cancer (case-case P 〈/= 0.02 for both rs62185668 and rs6108803). Functional analyses are needed to explore the biological mechanisms underlying these novel genetic associations with risk for bladder cancer.
    Type of Publication: Journal article published
    PubMed ID: 26732427
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  • 8
    Keywords: human ; EXPOSURE ; RISK ; METABOLITES ; SWEDEN ; MASS-SPECTROMETRY ; INDIVIDUALS ; SMOKERS ; DRINKING-WATER ; SPECIATION ; CONTAMINATION ; URINARY-EXCRETION ; ARSENOSUGAR ; INGESTION ; RICE
    Abstract: Inorganic arsenic is a potent human carcinogen and toxicant which people are exposed to mainly via drinking water and food. The objective of the present study was to assess current exposure to arsenic via drinking water in three European countries. For this purpose, 520 individuals from four Hungarian, two Slovakian and two Romanian countries were investigated by measuring inorganic arsenic and methylated arsenic metabolites in urine by high performance liquid chromatography with hydride generation and inductively coupled plasma mass spectrometry. Arsenic in drinking water was determined by atomic absorption spectrometry. Significantly higher concentrations of arsenic were found in both the water and the urine samples from the Hungarian counties (median: 11 and 15 mu g dm(-3), respectively; p 〈 0.001) than from the Slovakian (median: 0.94 and 4.5 mu g dm(-3), respectively) and Romanian (median: 0.70 and 2.1 mu g dm(-3), respectively) counties. A significant correlation was seen between arsenic in water and arsenic in urine (R-2 = 0.46). At low water arsenic concentrations, the relative amount of dimethylarsinic acid (DMA) in urine was increased, indicating exposure via food. Also, high body mass index was associated with higher concentrations of arsenic in urine (p = 0.03), mostly in the form of DMA. Smokers had significantly higher urinary arsenic concentrations than non-smokers (p = 0.03). In conclusion, elevated arsenic exposure via drinking water was prevalent in some of the counties. Exposure to arsenic from food, mainly as DMA, and cigarette smoke, mainly as inorganic arsenic, are major determinants of arsenic exposure at very low concentrations of arsenic in drinking water
    Type of Publication: Journal article published
    PubMed ID: 16395480
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  • 9
    Keywords: CANCER ; carcinoma ; Germany ; EXPOSURE ; RISK ; GENE ; GENES ; radiation ; DNA ; SKIN ; ASSOCIATION ; polymorphism ; POLYMORPHISMS ; single nucleotide polymorphism ; SUSCEPTIBILITY ; VARIANTS ; BREAST-CANCER ; IN-SITU ; AGE ; WOMEN ; DNA-REPAIR ; REPAIR ; MEN ; MODULATION ; cancer risk ; DAMAGE ; DNA repair ; basal cell carcinoma ; molecular epidemiology ; CELL CARCINOMA ; RE ; VARIANT ; DRINKING-WATER ; SINGLE NUCLEOTIDE POLYMORPHISMS ; INTERVAL ; single-nucleotide ; multiple testing ; CANCER-RISK ; STRAND BREAKS ; EXPOSURES ; CONTAMINATION ; SUN EXPOSURE
    Abstract: In addition to environmental exposures like UV radiation and, in some cases, arsenic contamination of drinking water, genetic factors may also influence the individual susceptibility to basal cell carcinoma of skin (BCC). In the present study, 529 cases diagnosed with BCC and 533 controls from Hungary, Romania and Slovakia were genotyped for one polymorphism in each of seven DNA repair genes. The variant allele for T241M (C 〉 T) polymorphism in the XRCC3 gene was associated with a decreased cancer risk [odds ratio (OR), 0.73; 95% confidence interval (CI), 0.61-0.88; P = 0.0007, multiple testing corrected P = 0.0041. The risk of multiple BCC was significantly lower among variant allele carriers than in noncarriers (P = 0.04). Men homozygous for the C-allele for E185Q (G 〉 C) polymorphism in the NBS1 gene showed an increased BCC risk (OR, 2.19; 95% CI, 1.23-3.91), but not women (OR, 0.84; 95 % CI, 0.49-1.47). In men, the age and nationality adjusted OR for the genotype CC (XRCC3)/CC (NBS1) was 8.79 (95% CI, 2.10-36.8), compared with the genotype TT (XRCC3)/GG (NBS1). The data from this study show overall risk modulation of BCC by variant allele for T241M polymorphism in XRCC3 and gender-specific effect by E185Q polymorphism in NBS1
    Type of Publication: Journal article published
    PubMed ID: 16501254
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  • 10
    Keywords: BLOOD ; human ; GENERATION ; POPULATION ; GENE ; EFFICIENCY ; METABOLISM ; INDEX ; REDUCTION ; GENETIC POLYMORPHISMS ; polymorphism ; POLYMORPHISMS ; SUSCEPTIBILITY ; METABOLITES ; HEALTH ; DIFFERENCE ; GLUTATHIONE ; PLASMA ; AGE ; WOMEN ; MEN ; mass spectrometry ; SWEDEN ; MASS-SPECTROMETRY ; US ; genetic polymorphism ; INDIVIDUALS ; LIQUID-CHROMATOGRAPHY ; BODY ; METHYLATION ; SKIN-CANCER ; URINE ; glutathione-S-transferase ; METABOLITE ; MASS INDEX ; MASSES ; BODIES ; RE ; arsenic ; DRINKING-WATER ; CAPACITY ; METHYLTRANSFERASE ; WEIGHT ; METHYLENETETRAHYDROFOLATE REDUCTASE ; MTHFR ; methods ; MASS ; OVERWEIGHT ; USA ; HUMAN-CELLS ; METHYLTRANSFERASES ; female ; Male ; WHOLE-BLOOD ; PUBLIC-HEALTH ; steroids ; BODY-MASS ; BODY-MASS-INDEX ; sex ; body mass ; AS3MT ; BLADDER-CANCER RISK ; GSTO1 ; HUMAN URINE ; METHYLATION CAPABILITY ; MMA(V) REDUCTASE ; MONOMETHYLARSONOUS ACID MMA(III) ; WEST-BENGAL
    Abstract: BACKGROUND: There is a wide variation in susceptibility to health effects of arsenic, which, in part, may be due to differences in arsenic metabolism. Arsenic is metabolized by reduction and methylation reactions, catalyzed by reductases and methyltransferases. OBJECTIVES: Our goal in this study was to elucidate the influence of various demographic and genetic factors on the metabolism of arsenic. METHODS: We studied 415 individuals from Hungary, Romania, and Slovakia by measuring arsenic metabolites in urine using liquid chromatography with hydride generation and inductively coupled plasma mass spectrometry (HPLC-HG-ICPMS). We performed genotyping of arsenic (+III) methyltransferase (AS3M7), glutathione S-transferase omega 1 (GSTO1), and methylenetetrahydrofolate reductase (MTHFR). RESULTS: The results show that the M287T (T -〉 C) polymorphism in the AS3MT gene, the A222V (C -〉 T) polymorphism in the MTHFR gene, body mass index, and sex are major factors that influence arsenic metabolism in this population, with a median of 8.0 mu g/L arsenic in urine. Females 〈 60 years of age had, in general, higher methylation efficiency than males, indicating an influence of sex steroids. That might also explain the observed better methylation in overweight or obese women, compared with normal weight men. The influence of the M287T (T -〉 C) polymorphism in the AS3MT gene on the methylation capacity was much more pronounced in men than in women. CONCLUSIONS: The factors investigated explained almost 20% of the variation seen in the metabolism of arsenic among men and only around 4% of the variation among women. The rest of the variation is probably explained by other methyltransferases backing up the methylation of arsenic
    Type of Publication: Journal article published
    PubMed ID: 17637926
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