“…In Asians and Caucasians the minor allele is reversed creating complexity for determining the causal variant [30,31]. The IL1 B polymorphism (rs16944) exhibits different allele frequencies between races as well and the same allele has been shown in meta-analysis to be protective for gastric cancer in Asians and a risk factor for Caucasians [32-34]. Wide differences in allele frequencies may also contribute to differences in disease prevalence between racial groups.…”
BackgroundThere is a lack of knowledge regarding the frequency of disease associated polymorphisms in populations and population attributable risk for many populations remains unknown. Factors that could affect the association of the allele with disease, either positively or negatively, such as race, ethnicity, and gender, may not be possible to determine without population based allele frequencies.Here we used a panel of 51 polymorphisms previously associated with at least one disease and determined the allele frequencies within the entire Personalized Medicine Research Project population based cohort. We compared these allele frequencies to those in dbSNP and other data sources stratified by race. Differences in allele frequencies between self reported race, region of origin, and sex were determined.ResultsThere were 19544 individuals who self reported a single racial category, 19027 or (97.4%) self reported white Caucasian, and 11205 (57.3%) individuals were female. Of the 11,208 (57%) individuals with an identifiable region of origin 8337 or (74.4%) were German.41 polymorphisms were significantly different between self reported race at the 0.05 level. Stratification of our Caucasian population by self reported region of origin revealed 19 polymorphisms that were significantly different (p = 0.05) between individuals of different origins. Further stratification of the population by gender revealed few significant differences in allele frequencies between the genders.ConclusionsThis represents one of the largest population based allele frequency studies to date. Stratification by self reported race and region of origin revealed wide differences in allele frequencies not only by race but also by region of origin within a single racial group. We report allele frequencies for our Asian/Hmong and American Indian populations; these two minority groups are not typically selected for population allele frequency detection. Population wide allele frequencies are important for the design and implementation of studies and for determining the relevance of a disease associated polymorphism for a given population.
“…In Asians and Caucasians the minor allele is reversed creating complexity for determining the causal variant [30,31]. The IL1 B polymorphism (rs16944) exhibits different allele frequencies between races as well and the same allele has been shown in meta-analysis to be protective for gastric cancer in Asians and a risk factor for Caucasians [32-34]. Wide differences in allele frequencies may also contribute to differences in disease prevalence between racial groups.…”
BackgroundThere is a lack of knowledge regarding the frequency of disease associated polymorphisms in populations and population attributable risk for many populations remains unknown. Factors that could affect the association of the allele with disease, either positively or negatively, such as race, ethnicity, and gender, may not be possible to determine without population based allele frequencies.Here we used a panel of 51 polymorphisms previously associated with at least one disease and determined the allele frequencies within the entire Personalized Medicine Research Project population based cohort. We compared these allele frequencies to those in dbSNP and other data sources stratified by race. Differences in allele frequencies between self reported race, region of origin, and sex were determined.ResultsThere were 19544 individuals who self reported a single racial category, 19027 or (97.4%) self reported white Caucasian, and 11205 (57.3%) individuals were female. Of the 11,208 (57%) individuals with an identifiable region of origin 8337 or (74.4%) were German.41 polymorphisms were significantly different between self reported race at the 0.05 level. Stratification of our Caucasian population by self reported region of origin revealed 19 polymorphisms that were significantly different (p = 0.05) between individuals of different origins. Further stratification of the population by gender revealed few significant differences in allele frequencies between the genders.ConclusionsThis represents one of the largest population based allele frequency studies to date. Stratification by self reported race and region of origin revealed wide differences in allele frequencies not only by race but also by region of origin within a single racial group. We report allele frequencies for our Asian/Hmong and American Indian populations; these two minority groups are not typically selected for population allele frequency detection. Population wide allele frequencies are important for the design and implementation of studies and for determining the relevance of a disease associated polymorphism for a given population.
“…Overall, borderline risk (Ratnasinghe et al, 2004;Yan et al, 2009) or even decreased risk (Shen et al, 2000) was observed for the XRCC1 Arg194Trp genotype for cardia GC risk, leading us to suspect that XRCC1 Arg194Trp genotypes may implicate varied host susceptibility to GC at different anatomical subsites (Shen et al, 2000). Based on our previous results (Loh et al, 2009;Wen et al, 2012), we conducted additional investigation into association of XRCC1 Arg194Trp and ADPRT Val762Ala polymorphisms with risk of the noncardia subtype in Western China.…”
Section: Polymorphisms Of Xrcc1 and Adprt Genes And Risk Of Noncardiamentioning
“…Promoter polymorphisms of IL1B are reported to be associated with human gastric cancer susceptibility by increasing or decreasing IL1b production in response to H. pylori infection and thus the progression of gastric atrophy (50,51). Increased production of NO in vitro is reported to increase the enzyme activity of DNA methyltransferases without changing their expression, and to induce DNA methylation of specific genes (52).…”
Section: Critical Roles Of Specific Types Of Inflammation In Methylatmentioning
Infection-associated cancers account for a large proportion of human cancers, and gastric cancer, the vast majority of which is associated with Helicobacter pylori infection, is a typical example of such cancers. Epigenetic alterations are known to occur frequently in gastric cancers, and H. pylori infection has now been shown to induce aberrant DNA methylation in gastric mucosae. Accumulation of aberrant methylation in gastric mucosae produces a field for cancerization, and methylation levels correlate with gastric cancer risk. H. pylori infection induces methylation of specific genes, and such specificity is determined by the epigenetic status in normal cells, including the presence of H3K27me3 and RNA polymerase II (active or stalled). Specific types of inflammation, such as that induced by H. pylori infection, are important for methylation induction, and infiltration of monocytes appears to be involved. The presence of an epigenetic field defect is not limited to gastric cancers and is observed in various types of cancers. It provides translational opportunities for cancer risk diagnosis incorporating life history, assessment of past exposure to carcinogenic factors, and cancer prevention. Clin Cancer Res; 18(4); 923-9. Ó2011 AACR.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.