rs1001179 - CIR1P3 - CAT

Magnitude 2.2 · 7 studies on file

Reported associations

• Genetic variability in CYP2E1 and catalase gene among currently and formerly alcohol-dependent male subjects. - Alcohol and alcoholism (Oxford, Oxfordshire) (2015) · Plemenitas A, Kastelic M, Porcelli S, Serretti A, Rus Makovec M, Kores Plesnicar B, Dolžan V · PubMed 25514903

  The present study explored whether specific single-nucleotide polymorphisms in alcohol metabolic pathway are associated with alcohol dependence or alcohol-related psychopathological symptoms. Three groups of male unrelated subjects were included: 101 currently alcohol-dependent patients, 100 formerly alcohol-dependent subjects and 97 healthy controls. The following questionnaires were implemented: AUDIT, Zung Depression and Anxiety scale, Brief Social Phobia Scale, Yale-Brown Obsessive Compulsive Scale, Obsessive Compulsive Drinking Scale and Buss-Durkee Hostility Inventory. All the subjects were genotyped for CYP2E1 c.-1053C>T and CAT c.-262C>T. Statistically significant differences in the distribution of genotypes and alleles for CAT c.-262C>T polymorphism were observed among the three i

• Influence of the polymorphism in candidate genes on late cardiac damage in patients treated due to acute leukemia in childhood. - Leukemia & lymphoma (2010) · Rajić V, Aplenc R, Debeljak M, Prestor VV, Karas-Kuzelicki N, Mlinaric-Rascan I, Jazbec J · PubMed 19863340

  Anthracyclines have contributed significantly to the increased cure rate in pediatric oncology. Cardiac toxicity is an important late effect after anthracycline treatment and is thought to occur by reactive oxygen species mediated cardiac damage. We hypothesized that deactivating variants of superoxide dismutase II (SOD2) [rs4880 (-9Val > Ala)], catalase (CAT) [rs1001179 (-262C > T) and rs10836235 (c.66 + 78C > T)], GSTT1, and GSTM1 may increase the risk of developing cardiac toxicity, in patients exposed to anthracyclines. The hypothesis was tested in a cohort of 76 long-term survivals of acute lymphoblastic leukemia in childhood. Cardiac damage was evaluated as an attributive variable and compared to gene polymorphisms. In our study group, we show statistically significant correlation be

• An association study between catalase -262C>T gene polymorphism, sodium-lithium countertransport activity, insulin resistance, blood lipid parameters and their response to atorvastatin, in Greek dyslipidaemic patients and normolipidaemic controls. - Free radical research (2009) · Kosmidou M, Hatzitolios AI, Molyva D, Raikos N, Savopoulos C, Daferera N, Kokkas V, Goulas A · PubMed 19274593

  This study attempted to examine the effect of a functional catalase gene polymorphism, CAT -262C>T, on sodium-lithium countertransport (Na-Li CT) activity, insulin resistance determined as the homeostasis model assessment index (HOMA-IR), blood lipid parameters (cholesterol, triglycerides, low density lipoprotein cholesterol, high density lipoprotein cholesterol, apolipoprotein B, apolipoprotein A-I) and their response to atorvastatin, in previously characterized Greek dyslipidaemic patients and normolipidaemic controls. Putative associations were examined by running univariate analyses with a general linear model, using age, sex, smoking and hypertension as covariates. While no statistically significant associations were detected between the CAT -262C>T polymorphism and either baseline va

• Mapping the proteo-genomic convergence of human diseases - Unknown journal (n.d.) · Unknown authors · PubMed 34648354

  ABSTRACT: Characterization of the genetic regulation of proteins is essential for understanding disease etiology and developing therapies. We identified 10,674 genetic associations for 3,892 plasma proteins to create a cis-anchored gene-protein-disease map of 1,859 connections that highlights strong cross-disease biological convergence. This proteo-genomic map provides a framework to 1) connect etiologically related diseases, 2) provide biological context for new or emerging disorders, and 3) integrate different biological domains to establish mechanisms for known gene-disease links. Our results identify proteo-genomic connections within and between diseases and establish the value of cis-protein variants for annotation of likely causal disease genes at GWAS loci, addressing a major barrie

• Novel risk loci for COVID-19 hospitalization among admixed American populations - Unknown journal (n.d.) · Unknown authors · PubMed 39361370

  ABSTRACT: The genetic basis of severe COVID-19 has been thoroughly studied, and many genetic risk factors shared between populations have been identified. However, reduced sample sizes from non-European groups have limited the discovery of population-specific common risk loci. In this second study nested in the SCOURGE consortium, we conducted a genome-wide association study (GWAS) for COVID-19 hospitalization in admixed Americans, comprising a total of 4702 hospitalized cases recruited by SCOURGE and seven other participating studies in the COVID-19 Host Genetic Initiative. We identified four genome-wide significant associations, two of which constitute novel loci and were first discovered in Latin American populations (BAZ2B and DDIAS). A trans-ethnic meta-analysis revealed another novel

• Susceptibility Loci for Type 2 Diabetes in the Ethnically Endogamous Indian Sindhi Population: A Pooled Blood Genome-Wide Association Study - Unknown journal (n.d.) · Unknown authors · PubMed 35893037

  ABSTRACT: Type 2 diabetes (T2D) is a complex metabolic derangement that has a strong genetic basis. There is substantial population-specificity in the association of genetic variants with T2D. The Indian urban Sindhi population is at a high risk of T2D. The genetic basis of T2D in this population is unknown. We interrogated 28 pooled whole blood genomes of 1402 participants from the Diabetes In Sindhi Families In Nagpur (DISFIN) study using Illumina's Global Screening Array. From a total of 608,550 biallelic variants, 140 were significantly associated with T2D after adjusting for comorbidities, batch effects, pooling error, kinship status and pooling variation in a random effects multivariable logistic regression framework. Of the 102 well-characterized genes that these variants mapped o

• Sickle Cell Anemia: Variants in the CYP2D6, CAT, and SLC14A1 Genes Are Associated With Improved Hydroxyurea Response - Unknown journal (n.d.) · Unknown authors · PubMed 33013391

  ABSTRACT: Differences in hydroxyurea response in sickle cell anemia may arise due to a series of factors with genetic factors appearing to be predominant. This study aims to investigate the effects of single nucleotide polymorphisms in genes encoding drug-metabolizing enzymes and solute carriers on hydroxyurea response, in patients with sickle cell anemia. For that purpose, a total number of 90 patients with sickle cell anemia were recruited, 45 were undergoing hydroxyurea treatment, while 45 were not under the treatment. Association analyses were performed between CYP3A4 (rs2740574), CYP2D6 (rs3892097), CAT (rs7943316 and rs1001179), and SLC14A1 (rs2298720) variants and laboratory parameters. According to our findings, patients with hydroxyurea treatment demonstrated higher HbF levels and

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