Association between the ABO locus and hematological traits in Korean.
Ontology highlight
ABSTRACT:
SUBMITTER: Hong KW
PROVIDER: S-EPMC3472170 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Publications
Association between the ABO locus and hematological traits in Korean.
Hong Kyung-Won KW Moon Sanghoon S Kim Young Jin YJ Kim Yun Kyoung YK Kim Dong-Joon DJ Kim Cheong-sik CS Kim Sung Soo SS Kim Bong-Jo BJ
BMC genetics 20120910
<h4>Background</h4>Recently, genome-wide association studies identified a pleiotropic gene locus, ABO, as being significantly associated with hematological traits. To confirm the effects of ABO on hematological traits, we examined the link between the ABO locus and hematological traits in Korean population-based cohorts.<h4>Results</h4>Six tagging SNPs for ABO were analyzed with regard to their effects on hematological traits [white blood cell count (WBC), red blood cell count (RBC), platelet (P ...[more]
Similar Datasets
Project description:Hematological parameters are appraised routinely to determine overall human health and to diagnose and monitor certain diseases. In GWASs, more than 30 loci carrying common deoxyribonucleic acid (DNA) polymorphisms have been identified related to hematological traits. In this study, we investigated the contribution of ABO rs2073823 along with AQP1 rs1049305 and rs10244884 polymorphisms in hematological traits variation in a cohort of Iranian healthy individuals.Genomic DNA was extracted from peripheral blood of 168 healthy volunteer. Genotyping was performed by ARMS-PCR or PCR-RFLP and confirmed by DNA sequencing. Complete blood analyses were conducted for the participants. Significant association was observed between AQP1 rs1049305 and the hematological traits including hemoglobin, hematocrit, and platelet count (P = 0.012, 0.008, and 0.011, respectively). The AQP1 rs10244884 status was also significantly linked to hemoglobin and hematocrit levels in the study cohort (P = 0.015 and 0.041, respectively). Furthermore, ABO rs2073823 polymorphism was identified as a hemoglobin and hematocrit levels modifier (both with P = 0.004).AQP1 and ABO variants appear to predict hemoglobin and hematocrit levels but not other erythrocyte phenotype parameters including red blood cell counts and red blood cell indices.
| S-EPMC4674197 | biostudies-literature
Project description:Personality is a trait that affects behavior and lifestyle, and sleep quality is an important component of a healthy life. We analyzed the association between personality traits and sleep quality in a cross-section of 1,406 young women (from 18 to 40 years of age) who were not reporting clinically meaningful depression symptoms. Surveys were carried out from December 2011 to February 2012, using the Revised NEO Personality Inventory and the Pittsburgh Sleep Quality Index (PSQI). All analyses were adjusted for demographic and behavioral variables. We considered beta weights, structure coefficients, unique effects, and common effects when evaluating the importance of sleep quality predictors in multiple linear regression models. Neuroticism was the most important contributor to PSQI global scores in the multiple regression models. By contrast, despite being strongly correlated with sleep quality, conscientiousness had a near-zero beta weight in linear regression models, because most variance was shared with other personality traits. However, conscientiousness was the most noteworthy predictor of poor sleep quality status (PSQI ? 6) in logistic regression models and individuals high in conscientiousness were least likely to have poor sleep quality, which is consistent with an OR of 0.813, with conscientiousness being protective against poor sleep quality. Personality may be a factor in poor sleep quality and should be considered in sleep interventions targeting young women.
| S-EPMC4452145 | biostudies-literature
Project description:Abnormal lipid levels are important etiological factors associated with the development of atherosclerosis and with increased cardiovascular morbidity and mortality. Lipid levels are also influenced by lifestyle and behavioral factors, which suggests that personality traits might be related to abnormal lipid profiles. Studies on personality traits and lipid levels are relatively scarce in Korea. Therefore, the objective of this study was to examine the association between lipid levels and personality traits in young Korean women. A total of 1,701 young Korean women [mean age = 24.9±4.6 years (range 17-39)] who volunteered for personality trait evaluation were recruited for this study. Lipid levels, including total cholesterol, high density lipoprotein (HDL) cholesterol, and triglyceride, were measured in all subjects after an overnight fast, and a low density lipoprotein (LDL) cholesterol level was calculated. The study population was divided into abnormal and normal lipid level groups according to the clinical criteria. Personality traits were measured using the Revised NEO Personality Inventory for the Five-Factor Model of personality. High neuroticism was associated with low HDL cholesterol levels. Low extraversion and openness were associated with high levels of triglyceride. At the facet level, the association between personality and lipid levels were generally consistent. Angry hostility, self-consciousness, vulnerability to stress, activity, and straightforwardness were associated with HDL cholesterol levels. Activity, positive emotion, aesthetics, actions, and deliberation were associated with triglyceride. When applying clinical criteria, conscientiousness was less likely to have abnormal total cholesterol levels. Our results showed that the women with the low HDL cholesterol levels are like to be more neurotic and the hyperglycemic women are prone to lower extraversion and openness in Korea. Understanding the associations between blood lipid levels and personality traits may have a beneficial effect for the managing of dyslipidemia.
| S-EPMC4182467 | biostudies-literature
Project description:Most genome-wide association studies consider genes that are located closest to single nucleotide polymorphisms (SNPs) that are highly significant for those studies. However, the significance of the associations between SNPs and candidate genes has not been fully determined. An alternative approach that used SNPs in expression quantitative trait loci (eQTL) was reported previously for Crohn's disease; it was shown that eQTL-based preselection for follow-up studies was a useful approach for identifying risk loci from the results of moderately sized GWAS. In this study, we propose an approach that uses eQTL SNPs to support the functional relationships between an SNP and a candidate gene in a genome-wide association study. The genome-wide SNP genotypes and 10 biochemical measures (fasting glucose levels, BUN, serum albumin levels, AST, ALT, gamma GTP, total cholesterol, HDL cholesterol, triglycerides, and LDL cholesterol) were obtained from the Korean Association Resource (KARE) consortium. The eQTL SNPs were isolated from the SNP dataset based on the RegulomeDB eQTL-SNP data from the ENCODE projects and two recent eQTL reports. A total of 25,658 eQTL SNPs were tested for their association with the 10 metabolic traits in 2 Korean populations (Ansung and Ansan). The proportion of phenotypic variance explained by eQTL and non-eQTL SNPs showed that eQTL SNPs were more likely to be associated with the metabolic traits genetically compared with non-eQTL SNPs. Finally, via a meta-analysis of the two Korean populations, we identified 14 eQTL SNPs that were significantly associated with metabolic traits. These results suggest that our approach can be expanded to other genome-wide association studies.
| S-EPMC4262412 | biostudies-literature
Project description:Red blood cell (RBC) traits are routinely measured in clinical practice as important markers of health. Deviations from the physiological ranges are usually a sign of disease, although variation between healthy individuals also occurs, at least partly due to genetic factors. Recent large scale genetic studies identified loci associated with one or more of these traits; further characterization of known loci and identification of new loci is necessary to better understand their role in health and disease and to identify potential molecular mechanisms. We performed meta-analysis of Metabochip association results for six RBC traits-hemoglobin concentration (Hb), hematocrit (Hct), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), mean corpuscular volume (MCV) and red blood cell count (RCC)-in 11 093 Europeans from seven studies of the UCL-LSHTM-Edinburgh-Bristol (UCLEB) Consortium. We identified 394 non-overlapping SNPs in five loci at genome-wide significance: 6p22.1-6p21.33 (with HFE among others), 6q23.2 (with HBS1L among others), 6q23.3 (contains no genes), 9q34.3 (only ABO gene) and 22q13.1 (with TMPRSS6 among others), replicating previous findings of association with RBC traits at these loci and extending them by imputation to 1000 Genomes. We further characterized associations between ABO SNPs and three traits: hemoglobin, hematocrit and red blood cell count, replicating them in an independent cohort. Conditional analyses indicated the independent association of each of these traits with ABO SNPs and a role for blood group O in mediating the association. The 15 most significant RBC-associated ABO SNPs were also associated with five cardiometabolic traits, with discordance in the direction of effect between groups of traits, suggesting that ABO may act through more than one mechanism to influence cardiometabolic risk.
| S-EPMC4900668 | biostudies-literature
Project description:AimTo evaluate whether the ABO blood group is related to pancreatic cancer risk in the general population of the United States.MethodsUsing the University of Pittsburgh's clinical pancreatic cancer registry, the blood donor database from our local blood bank (Central Blood Bank), and the blood product recipient database from the regional transfusion service (Centralized Transfusion Service) in Pittsburgh, Pennsylvania, we identified 274 pancreatic cancer patients with previously determined serological ABO blood group information. The ABO blood group frequency was compared between these patients and 708 842 individual, community-based blood donors who had made donations to Pittsburgh's Central Blood Bank between 1979 and 2009.ResultsThe frequency of blood group A was statistically significantly higher amongst pancreatic cancer patients compared to its frequency amongst the regional blood donors [47.63% vs 39.10%, odds ratio (OR) = 1.43, P = 0.004]. Conversely, the frequency of blood group O was significantly lower amongst pancreatic cancer patients relative to the community blood donors (32.12% vs 43.99%, OR = 0.60, P = 0.00007). There were limited blood group B (n = 38) and AB (n = 17) pancreatic cancer patients; the overall P trend value comparing patient to donor blood groups was 0.001.ConclusionThe ABO blood group is associated with pancreatic cancer risk. Future studies should examine the mechanism linking pancreatic cancer risk to ABO blood group.
| S-EPMC2992676 | biostudies-literature
Project description:BackgroundIt has been shown that hematological traits are strongly associated with the metabolism and the immune system in domestic pig. However, little is known about the genetic architecture of hematological traits. To identify quantitative trait loci (QTL) controlling hematological traits, we performed single marker Genome-wide association studies (GWAS) and haplotype analysis for 15 hematological traits in 495 Chinese Sutai pigs.ResultsWe identified 161 significant SNPs including 44 genome-wide significant SNPs associated with 11 hematological traits by single marker GWAS. Most of them were located on SSC2. Meanwhile, we detected 499 significant SNPs containing 154 genome-wide significant SNPs associated with 9 hematological traits by haplotype analysis. Most of the identified loci were located on SSC7 and SSC9.ConclusionsWe detected 4 SNPs with pleiotropic effects on SSC2 by single marker GWAS and (or) on SSC7 by haplotype analysis. Furthermore, through checking the gene functional annotations, positions and their expression variation, we finally selected 7 genes as potential candidates. Specially, we found that three genes (TRIM58, TRIM26 and TRIM21) of them originated from the same gene family and executed similar function of innate and adaptive immune. The findings will contribute to dissection the immune gene network, further identification of causative mutations underlying the identified QTLs and providing insights into the molecular basis of hematological trait in domestic pig.
| S-EPMC3986688 | biostudies-literature
Project description:There is no consensus among the existing literature on the relationship between ABO blood groups and risk of Helicobacter pylori infection. However, histo-blood group carbohydrates are proposed to influence the risk of acquiring this pathogen via effects on adhesion to the gastric mucosa. The objective of this meta-analysis was to evaluate the association between ABO blood groups and H. pylori infection. All relevant epidemiological studies published in English (up to October 2017) was retrieved through an extensive systematic literature search of MEDLINE/PubMed databases. Pooled estimates of effects were obtained through the use of fixed and random effects meta-analyses. Individuals with O blood group were more likely to be infected with H. pylori (pooled odds ratio (OR) 1.163; 95% confidence interval (CI) 1.074-1.259; P?<?0.001). While individuals with B and AB blood group were less likely to be infected with H. pylori (OR 0.831; 95% CI 0.738-0.935; P?=?0.002 and OR 0.709; 95% CI 0.605-0.832; P?<?0.001, respectively). The results from this meta-analysis of observational studies suggest an estimated 16.3% increased odds of H. pylori infection amongst individuals with the O blood group. If this observed association is causal, a better understanding of the underlying mechanisms could provide indications to potential prevention strategies for H. pylori infection.
| S-EPMC6279815 | biostudies-other
Project description:Phrynocephalus erythrurus (Lacertilia: Agamidae) is considered to be the highest living reptile in the world (about 4500-5000 m above sea level), whereas Phrynocephalus przewalskii inhabits low altitudes (about 1000-1500 m above sea level). Here, we report the differences in hematological traits between these two different Phrynocephalus species. Compared with P. przewalskii, the results indicated that P. erythrurus own higher oxygen carrying capacity by increasing red blood cell count (RBC), hemoglobin concentration ([Hb]) and hematocrit (Hct) and these elevations could promote oxygen carrying capacity without disadvantage of high viscosity. The lower partial pressure of oxygen in arterial blood (PaO2) of P. erythrurus did not cause the secondary alkalosis, which may be attributed to an efficient pulmonary system for oxygen (O2) loading. The elevated blood-O2 affinity in P. erythrurus may be achieved by increasing intrinsic O2 affinity of isoHbs and balancing the independent effects of potential heterotropic ligands. We detected one α-globin gene and three β-globin genes with 1 and 33 amino acid substitutions between these two species, respectively. Molecular dynamics simulation results showed that amino acids substitutions in β-globin chains could lead to the elimination of hydrogen bonds in T-state Hb models of P. erythrurus. Based on the present data, we suggest that P. erythrurus have evolved an efficient oxygen transport system under the unremitting hypobaric hypoxia.
| S-EPMC4425549 | biostudies-literature
Project description:Shank skin color of Korean native chicken (KNC) shows large color variations. It varies from white, yellow, green, bluish or grey to black, whilst in the majority of European breeds the shanks are typically yellow-colored. Three shank skin color-related traits (i.e., lightness [L*], redness [a*], and yellowness [b*]) were measured by a spectrophotometer in 585 progeny from 68 nuclear families in the KNC resource population. We performed genome scan linkage analysis to identify loci that affect quantitatively measured shank skin color traits in KNC. All these birds were genotyped with 167 DNA markers located throughout the 26 autosomes. The SOLAR program was used to conduct multipoint variance-component quantitative trait locus (QTL) analyses. We detected a major QTL that affects b* value (logarithm of odds [LOD] = 47.5, p = 1.60×10-49) on GGA24 (GGA for Gallus gallus). At the same location, we also detected a QTL that influences a* value (LOD = 14.2, p = 6.14×10-16). Additionally, beta-carotene dioxygenase 2 (BCDO2), the obvious positional candidate gene under the linkage peaks on GGA24, was investigated by the two association tests: i.e., measured genotype association (MGA) and quantitative transmission disequilibrium test (QTDT). Significant associations were detected between BCDO2 g.9367 A>C and a* (PMGA = 1.69×10-28; PQTDT = 2.40×10-25). The strongest associations were between BCDO2 g.9367 A>C and b* (PMGA = 3.56×10-66; PQTDT = 1.68×10-65). However, linkage analyses conditional on the single nucleotide polymorphism indicated that other functional variants should exist. Taken together, we demonstrate for the first time the linkage and association between the BCDO2 locus on GGA24 and quantitatively measured shank skin color traits in KNC.
| S-EPMC5088374 | biostudies-literature