3-Hydroxy-3-methylglutaryl–coenzyme a reductase inhibitors (statins) and genetic variability (single nucleotide polymorphisms) in a hepatic drug uptake transporter: what's it all about?

Three single nucleotide polymorphisms (SNPs) have known links to caffeine consumption,metabolism, and post-consumption effects and responses: cytochrome P450 1A2 (CYP1A2; rs762551) [...]

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P4-048 Single nucleotide polymorphisms in the 3′ UTR of the gene encoding acyl-coenzyme A: cholesterol acyl transferase 1 confer risk for sporadic Alzheimer's disease

Neurobiology of Aging ◽

10.1016/s0197-4580(04)81606-3 ◽

2004 ◽

Vol 25 ◽

pp. S486

Author(s):

Fabienne Brunner

Keyword(s):

Alzheimer’S Disease ◽

Single Nucleotide Polymorphisms ◽

Coenzyme A ◽

Acyl Transferase ◽

Nucleotide Polymorphisms ◽

Sporadic Alzheimer’S Disease ◽

Gene Encoding ◽

Cholesterol Acyl Transferase ◽

Single Nucleotide ◽

Acyl Coenzyme A

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Single Nucleotide Polymorphisms in the Arginase 1 and 2 Genes Are Differentially Associated with Circulating l-Arginine Concentration in Unsupplemented and l-Arginine–Supplemented Adults

Journal of Nutrition ◽

10.1093/jn/nxaa325 ◽

2020 ◽

Author(s):

Juliane Hannemann ◽

Leonard Rendant-Gantzberg ◽

Julia Zummack ◽

Jonas Hillig ◽

Ina Eilermann ◽

...

Keyword(s):

Genetic Variability ◽

Single Nucleotide Polymorphisms ◽

Functional Relation ◽

Minor Allele ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Supplement Use ◽

Arginase 1 ◽

Study Results ◽

Arginine Concentration

ABSTRACT Background Genetic variation in arginase may underlie variability in whole blood l-arginine concentrations in unsupplemented and l-arginine–supplemented adults. Objectives We aimed to study whether single nucleotide polymorphisms (SNPs) in the arginase 1 (ARG1) and arginase 2 (ARG2) genes are associated with blood l-arginine concentrations in unsupplemented and l-arginine–supplemented individuals. Methods In 374 adults (mean ± SD age: 59.6 ± 14.6 y; 180 males), we analyzed SNPs in the ARG1 (rs2246012 and rs2781667) and ARG2 genes (rs3742879 and rs2759757) and their associations with blood l-arginine concentrations. We analyzed associations of haplotypes for the ARG1 gene and for the ARG1 and ARG2 genes combined with blood l-arginine concentrations in supplement users and unsupplemented participants. Results Of study participants, 120 had low (<42 μmol/L), 133 had medium (42–114 μmol/L), and 121 had high blood l-arginine concentrations (>114 μmol/L); 58 individuals were current l-arginine supplement users. We found a significantly higher prevalence of the minor allele of ARG1 rs2246012 in supplement users with higher blood l-arginine concentrations (P = 0.03). Mean ± SEM l-arginine concentration was 263 ± 9.76 μmol/L in supplement users homozygous for the minor allele of ARG1 rs2246012 (P = 0.004); it was 70.4 ± 25.6 μmol/L in unsupplemented participants homozygous for the minor allele of ARG2 rs3759757 (P = 0.03). The ARG1 haplotype was significantly associated with blood l-arginine concentrations in supplement users (P = 0.046), whereas the combined ARG1/ARG2 haplotype was significantly associated with blood l-arginine concentrations in the cohort as a whole (P = 0.012). Conclusions Genetic variability in the ARG1 and ARG2 genes is associated with blood l-arginine concentrations in humans: ARG1 is associated with blood l-arginine concentrations in l-arginine supplement users, whereas ARG2 is associated with blood l-arginine concentrations in unsupplemented participants. Our study is the first to describe a possible functional relation between ARG1 and ARG2 SNPs and blood l-arginine concentrations; genetic variability in ARG1 may explain variation in blood l-arginine concentrations during supplement use and discrepant study results.

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DRD2/ANKK1 Taq1A but not COMT single nucleotide polymorphisms contribute to the link between temporal impulsivity and obesity in men

10.1101/2020.06.02.130344 ◽

2020 ◽

Author(s):

Filip Morys ◽

Jakob Simmank ◽

Annette Horstmann

Keyword(s):

Genetic Variability ◽

Single Nucleotide Polymorphisms ◽

The Body ◽

Nucleotide Polymorphisms ◽

Cross Sectional ◽

Single Nucleotide ◽

Dopaminergic Transmission ◽

And Gender ◽

Gender Interactions ◽

The Brain

AbstractTemporal impulsivity, the tendency to choose a smaller, sooner over a larger, delayed reward, is associated with single nucleotide polymorphisms (SNPs) in COMT and DRD2-related ANKK1 genes, whose products regulate dopaminergic transmission in the brain. Temporal impulsivity is also consistently associated with obesity, sometimes in a genderdependent fashion. Further, there seems to be no direct association between these SNPs and obesity. In this study, we investigated an interaction between BMI, COMT, and DRD2/ANKK1 SNPs, and temporal impulsivity. We tested three plausible models of associations between those variables: (1) genetic variability influencing BMI through temporal impulsivity and gender interactions, (2) genetic variability interacting with temporal impulsivity to influence BMI, (3) interaction of BMI and genetic variability influencing temporal impulsivity. We found evidence for the second model: in men, BMI was dependent on temporal impulsivity and the DRD2/ANKK1 SNP. It shows that increased temporal impulsivity combined with a disadvantageous DRD2/ANKK1 genotype might be a vulnerability factor for the development of obesity. Our study, even though cross-sectional, adds to the body of literature regarding the influence of the dopaminergic system on obesity measures. Our results point to a factor explaining discrepancies in results regarding associations of temporal impulsivity and BMI in women and men.

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