scholarly journals A phenome-wide association study of ABO blood groups

BMC Medicine ◽  
2020 ◽  
Vol 18 (1) ◽  
Author(s):  
Shun Li ◽  
C. M. Schooling
Keyword(s):  
Blood Pressure ◽  
Body Composition ◽  
Association Study ◽  
Blood Group ◽  
Density Lipoprotein ◽  
Blood Group Antigen ◽  
Abo Blood Group ◽  
Blood Group Antigens ◽  
Nucleotide Polymorphisms ◽  
Tag Snp

Abstract Background ABO blood group is associated with differences in lifespan, cardiovascular disease, and some cancers, for reasons which are incompletely understood. To gain sex-specific additional insight about potential mechanisms driving these common conditions for future interventions, we characterized associations of ABO blood group antigen across the phenotype sex-specifically. Methods We performed a phenome-wide association study (PheWAS) assessing the association of tag single nucleotide polymorphisms (SNPs) for ABO blood group antigens (O, B, A1, and A2) with 3873 phenotypes. Results The tag SNP for the O antigen was inversely associated with diseases of the circulatory system (particularly deep vein thrombosis (DVT)), total cholesterol, low-density lipoprotein cholesterol (LDL-C), and ovarian cancer, and positively associated with erythrocyte traits, leukocyte counts, diastolic blood pressure (DBP), and healthy body composition; the tag SNP for the A1 antigen tended to have associations in reverse to O. Stronger associations were more apparent for men than women for DVT, DBP, leukocyte traits, and some body composition traits, whereas larger effect sizes were found for women than men for some erythrocyte and lipid traits. Conclusion Blood group has a complex association with cardiovascular diseases and its major risk factors, including blood pressure and lipids, as well as with blood cell traits and body composition, with some differences by sex. Lower LDL-C may underlie some of the benefits of blood group O, but the complexity of associations with blood group antigen suggests overlooked drivers of common chronic diseases.

scholarly journals Genetic and epigenetic associations of ANRIL with coronary artery disease and risk factors

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Bayi Xu ◽  
Zhixia Xu ◽  
Yequn Chen ◽  
Nan Lu ◽  
Zhouwu Shu ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Coronary Artery Disease ◽  
Dna Methylation ◽  
Coronary Artery ◽  
Gene Dosage ◽  
Density Lipoprotein ◽  
Nucleotide Polymorphisms ◽  
Coronary Syndrome ◽  
Non Coding Rna ◽  
Artery Disease

Abstract Background Both DNA genotype and methylation of antisense non-coding RNA in the INK4 locus (ANRIL) have been robustly associated with coronary artery disease (CAD), but the interdependent mechanisms of genotype and methylation remain unclear. Methods Eighteen tag single nucleotide polymorphisms (SNPs) of ANRIL were genotyped in a matched case–control study (cases 503 and controls 503). DNA methylation of ANRIL and the INK4/ARF locus (p14ARF, p15INK4b and p16INK4a) was measured using pyrosequencing in the same set of samples (cases 100 and controls 100). Results Polymorphisms of ANRIL (rs1004638, rs1333048 and rs1333050) were significantly associated with CAD (p < 0.05). The incidence of CAD, multi-vessel disease, and modified Gensini scores demonstrated a strong, direct association with ANRIL gene dosage (p < 0.05). There was no significant association between ANRIL polymorphisms and myocardial infarction/acute coronary syndrome (MI/ACS) (p > 0.05). Methylation levels of ANRIL were similar between the two studied groups (p > 0.05), but were different in the rs1004638 genotype, with AA and AT genotype having a higher level of ANRIL methylation (pos4, p = 0.006; pos8, p = 0.019). Further Spearman analyses indicated that methylation levels of ANRIL were positively associated with systolic blood pressure (pos6, r = 0.248, p = 0.013), diastolic blood pressure (pos3, r = 0.213, p = 0.034; pos6, r = 0.220, p = 0.028), and triglyceride (pos4, r = 0.253, p = 0.013), and negatively associated with high-density lipoprotein cholesterol (pos2, r = − 0.243, p = 0.017). Additionally, we identified 12 transcription factor binding sites (TFBS) within the methylated ANRIL region, and functional annotation indicated these TFBS were associated with basal transcription. Methylation at the INK4/ARF locus was not associated with ANRIL genotype. Conclusions These results indicate that ANRIL genotype (tag SNPs rs1004638, rs1333048 and rs1333050) mainly affects coronary atherosclerosis, but not MI/ACS. There may be allele-related DNA methylation and allele-related binding of transcription factors within the ANRIL promoter.

Seasonal Tracking of Histo-Blood Group Antigen Expression and Norovirus Binding in Oyster Gastrointestinal Cells

2008 ◽  
Vol 71 (8) ◽  
pp. 1696-1700 ◽  
Author(s):  
PENG TIAN ◽  
ANNA L. ENGELBREKTSON ◽  
ROBERT E. MANDRELL
Keyword(s):  
Blood Group ◽  
Seasonal Pattern ◽  
Antigen Expression ◽  
Blood Group Antigen ◽  
Viral Gastroenteritis ◽  
Blood Group Antigens ◽  
Pacific Oysters ◽  
Crassostrea Sikamea ◽  
Highly Correlated ◽  
Viral Receptors

Noroviruses (NORs) are the most common cause of viral gastroenteritis outbreaks. Outbreaks are often associated with the consumption of contaminated oysters and generally occur between the months of November and March, when oysters produce the highest levels of glycogen. Oyster glycogen has been proposed as playing a role in NOR accumulation. Recent research indicates that histo-blood group antigens (HBGAs) function as viral receptors on human gastrointestinal cells. In this study, oyster glycogen was tested to determine whether it contains HBGA-like molecules and whether it plays a role in NOR binding. The correlation between the amount of HBGA expression and NOR binding also was measured. We also tested whether seasonal changes affected HBGA expression and binding of recombinant NORs. The results indicate that recombinant NOR binding is highly correlated with HBGA expression in Virginica (Crassostrea virginica), Pacific (Crassostrea gigas), and Kumamato (Crassostrea sikamea) oysters, but the association does not have a seasonal pattern. No obvious trend in either HBGA expression or recombinant NOR binding by month was noted. A significant increase in recombinant NOR binding was observed in Virginica and Pacific oysters in a season not generally associated with NOR gastroenteritis outbreaks. A significant increase in HBGA expression also was observed for Pacific and Virginica oysters in the same season. Paradoxically, HBGA expression and NOR binding both were higher in oysters produced in the non–NOR gastroenteritis season (April through October) than in those produced in the NOR gastroenteritis season (November through March), suggesting that seasonal NOR gastroenteritis outbreaks are not associated with high levels of HBGA expression or NOR binding.

scholarly journals ABO Blood Group Antigens on HeLa-S3 Cell Shown by Elution Method

1971 ◽  
Vol 104 (1) ◽  
pp. 93-98 ◽  
Author(s):  
TAKUSABURO EBINA ◽  
MORIO HOMMA ◽  
NAKAO ISHIDA ◽  
TOSHIYUKI KUDO
Keyword(s):  
Blood Group ◽  
Abo Blood Group ◽  
Blood Group Antigens ◽  
Hela S3 ◽  
Elution Method

scholarly journals ABO blood group antigens of human spermatozoa.

1985 ◽  
Vol 147 (3) ◽  
pp. 267-272 ◽  
Author(s):  
KATSUHIRO TAKEDA ◽  
KOUICHI KIRAIWA
Keyword(s):  
Blood Group ◽  
Human Spermatozoa ◽  
Abo Blood Group ◽  
Blood Group Antigens

ABO Blood Group Antigens on Human Plasma von Willebrand Factor After ABO-Mismatched Bone Marrow Transplantation

Blood ◽  
1999 ◽  
Vol 94 (8) ◽  
pp. 2895-2900 ◽  
Author(s):  
Taei Matsui ◽  
Taketo Shimoyama ◽  
Masanori Matsumoto ◽  
Yoshihiro Fujimura ◽  
Yoshinobu Takemoto ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Endothelial Cells ◽  
Stem Cell ◽  
Bone Marrow Transplantation ◽  
Stem Cell Transplantation ◽  
Blood Group ◽  
Abo Blood Group ◽  
Blood Group Antigens ◽  
Von Willebrand ◽  
Willebrand Factor

von Willebrand factor (vWF) is synthesized exclusively by endothelial cells and megakaryocytes, and stored in the intracellular granules or constitutively secreted into plasma. ABO blood group antigens are covalently associated with asparagine-linked sugar chains of plasma vWF. The effect of ABO-mismatched bone marrow transplantation (BMT) or blood stem cell transplantation (BSCT) on the expression of ABO blood group antigens on the vWF was examined to obtain information on the origin of these antigens. In ABO-mismatched (HLA-matched) groups, 8 cases of BMT and 4 cases of BSCT were examined. In all cases, the ABO blood groups on red blood cells were gradually converted to the donor’s type within 80 to 90 days after the transplantation. The blood group antigens on the vWF were consistent with the recipient’s blood group for the period monitored by enzyme-linked immunosorbent assay (ELISA). When vWF was isolated from normal platelets and examined for the blood group antigens using ELISA or immunoblotting, it showed few antigens. However, vWF extracted from veins expressed blood group antigens. These findings indicate that platelet (megakaryocyte)-derived vWF does not contain blood group antigens and that these antigens may be specifically associated with vWF synthesized in endothelial cells and secreted into plasma. Furthermore, it is possible that the persistence of the recipient’s blood group antigens on plasma glycoproteins such as vWF, independent of the donor-derived erythrocytes, after ABO-mismatched stem cell transplantation, may influence the immunological system in the production of anti-blood group antibodies resulting in the establishment of immunological tolerance in the recipient plasma.

scholarly journals ABO Blood Group Antigen on the Human Liver Ribosome

1970 ◽  
Vol 46 (3) ◽  
pp. 301-304 ◽  
Author(s):  
Shigenori IKEMOTO ◽  
Tanemoto FURUHATA
Keyword(s):  
Blood Group ◽  
Human Liver ◽  
Blood Group Antigen ◽  
Abo Blood Group
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