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Relationships between the ABO blood group SNP rs505922 and breast cancer phenotypes: a genotype-phenotype correlation study.

ABSTRACT: BACKGROUND: To date, evaluation of the association of the ABO blood group and breast cancer has yielded mixed results. SNP rs505922, located within the first intron of the ABO gene, has been associated with the adenocarcinoma subtype of pancreatic cancer. To evaluate the association between genetic variation in the ABO blood group and risk of breast cancer, rs505922 was genotyped in 629 Caucasian women with invasive breast cancer, representing a variety of clinical and pathological tumor types. METHODS: Genomic DNA was isolated from blood. TaqMan SNP assay C_2253769_10 was used to determine genotypes for each patient at rs505922. Statistical analysis was performed using chi-square analysis using a P-value <0.05 to define significance. RESULTS: Genotypes were generated for 100% of the 629 patients in this study. Allele and genotype frequencies did not vary significantly for age at diagnosis, tumor stage, size or grade, hormone, HER2 or lymph node status, intrinsic subtype, tumor type or patient outcome. CONCLUSIONS: Allele frequencies for rs505922 did not differ between women with breast cancer and published HapMap frequencies from women of European descent. Further stratification into different tumor phenotypes also failed to reveal an association between rs505922 and any clinical characteristics. Together, these data suggest that the minor allele of rs505922 and the resulting non-O blood types are not associated with increased risk or less favorable tumor characteristics or prognosis in breast cancer.

SUBMITTER: Rummel S

PROVIDER: S-EPMC3514387 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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Relationships between the ABO blood group SNP rs505922 and breast cancer phenotypes: a genotype-phenotype correlation study.

Rummel Seth S Shriver Craig D CD Ellsworth Rachel E RE

BMC medical genetics 20120529

<h4>Background</h4>To date, evaluation of the association of the ABO blood group and breast cancer has yielded mixed results. SNP rs505922, located within the first intron of the ABO gene, has been associated with the adenocarcinoma subtype of pancreatic cancer. To evaluate the association between genetic variation in the ABO blood group and risk of breast cancer, rs505922 was genotyped in 629 Caucasian women with invasive breast cancer, representing a variety of clinical and pathological tumor ...[more]

PMID: 22642827

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Project description:INTRODUCTION:Certain ABO blood types have been linked to cardiovascular disease, infection and cancers. The effect of recipient ABO blood group on patient and graft survival has not been studied in ABO-matched kidney transplantation. This study aims to determine the association between kidney transplant recipient ABO blood groups with patient and graft survival in Australian and New Zealand. METHODS:All Australian and New Zealand transplant recipients who received ABO-compatible primary kidney transplants between 1995-2016 were analysed using a de-identified dataset from the Australia and New Zealand Dialysis and Transplant (ANZDATA) Registry. Primary analysis was undertaken of recipient ABO blood group O versus non-O blood groups. The primary outcome was patient survival post kidney transplantation and the secondary outcome was death censored graft survival. Recipient age at first transplant, gender, ethnicity, body mass index, smoking status, vascular disease, presence of diabetes mellitus, chronic lung disease, primary kidney disease, donor source, donor age and gender, and era of transplants were included in the multivariate model as confounders. RESULTS AND CONCLUSIONS:On analysis of 15,523 kidney transplant recipients, blood group O was not associated with patient survival (hazard ratio (HR) 0.96, 95% confidence interval (CI) 0.89-1.04) nor death censored graft survival (HR 0.97, 95% CI 0.89-1.05) compared to non-blood group O recipients. Competing risks analyses showed an increased risk of cancer-related mortality in blood group O recipients on univariate analyses (HR 1.18, 95% CI 1.01-1.37) however, this became insignificant on multivariate analyses. On secondary analyses, recipient blood group AB (4.11% participants) was associated with inferior death censored graft survival compared to those with blood group O (HR 1.24, 95% CI 1.02-1.50). Although recipient ABO blood groups were not associated with patient nor graft survival, differences in cause-specific mortality between individual blood groups cannot be excluded based on current analyses.

Project description:Introduction: Coronavirus disease 2019 (COVID-19) disease severity differs widely due to numerous factors including ABO gene-derived susceptibility or resistance. The objective of this study was to investigate the association of the ABO blood group and genetic variations of the ABO gene with COVID-19 severity in a heterogeneous hospital population sample from the United Arab Emirates, with the use of an epidemiological and candidate gene approach from a genome-wide association study (GWAS). Methods: In this cross-sectional study, a total of 646 participants who tested positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) were recruited from multiple hospitals and population-based (quarantine camps) recruitment sites from March 2020 to February 2021. The participants were divided into two groups based on the severity of COVID-19: noncritical (n = 453) and critical [intensive care unit (ICU) patients] (n = 193), as per the COVID-19 Reporting and Data System (CO-RADS) classification. The multivariate logistic regression analysis demonstrated the association of ABO blood type as well as circulating anti-A antibodies and anti-B antibodies as well as A and B antigens, in association with critical COVID-19 hospital presentation. A candidate gene analysis approach was conducted from a GWAS where we examined 240 single nucleotide polymorphisms (SNPs) (position in chr9: 136125788-136150617) in the ABO gene, in association with critical COVID-19 hospital presentation. Results: Patients with blood group O [odds ratio (OR): 0.51 (0.33, 0.79); p = 0.003] were less likely to develop critical COVID-19 symptoms. Eight alleles have been identified to be associated with a protective effect of blood group O in ABO 3'untranslated region (UTR): rs199969472 (p = 0.0052), rs34266669 (p = 0.0052), rs76700116 (p = 0.0052), rs7849280 (p = 0.0052), rs34039247 (p = 0.0104), rs10901251 (p = 0.0165), rs9411475 (p = 0.0377), and rs13291798 (p = 0.0377). Conclusion: Our findings suggest that there are novel allelic variants that link genetic variants of the ABO gene and ABO blood groups contributing to the reduced risk of critical COVID-19 disease. This study is the first study to combine genetic and serological evidence of the involvement of the ABO blood groups and the ABO gene allelic associations with COVID-19 severity within the Middle Eastern population.

Dataset Information

Relationships between the ABO blood group SNP rs505922 and breast cancer phenotypes: a genotype-phenotype correlation study.

Publications

Relationships between the ABO blood group SNP rs505922 and breast cancer phenotypes: a genotype-phenotype correlation study.

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