scholarly journals A rare gene variation cap +1 (A>C) (HBB: c. −50A>C) associated with codon 5 (‐CT) (HBB: c.17_18delCT) mutation in Syrian family

2021 ◽  
Author(s):  
Hossam Murad ◽  
Faten Moassas ◽  
Nour A. L. Fakseh
Keyword(s):  
Gene Variation ◽  
Rare Gene

scholarly journals Modeling rare gene variation to gain insight into the oldest biomarker in autism: construction of the serotonin transporter Gly56Ala knock-in mouse

2009 ◽  
Vol 1 (2) ◽  
pp. 158-171 ◽  
Author(s):  
Jeremy Veenstra-VanderWeele ◽  
Tammy N. Jessen ◽  
Brent J. Thompson ◽  
Michelle Carter ◽  
Harish C. Prasad ◽  
...  
Keyword(s):  
Serotonin Transporter ◽  
Gene Variation ◽  
Rare Gene ◽  
Insight Into

scholarly journals No association between insulin gene variation and adult metabolic phenotypes in a large Finnish birth cohort

Diabetologia ◽  
2005 ◽  
Vol 48 (5) ◽  
pp. 886-891 ◽  
Author(s):  
A. Bennett ◽  
U. Sovio ◽  
A. Ruokonen ◽  
H. Martikainen ◽  
A. Pouta ◽  
...  
Keyword(s):  
Birth Cohort ◽  
Insulin Gene ◽  
Gene Variation ◽  
Metabolic Phenotypes

scholarly journals Protease Inhibitor-Associated Dyslipidemia in HIV-Infected Patients Is Strongly Influenced by the APOA5–1131T→C Gene Variation

2006 ◽  
Vol 52 (10) ◽  
pp. 1914-1919 ◽  
Author(s):  
Montse Guardiola ◽  
Raimon Ferré ◽  
Juliana Salazar ◽  
Carlos Alonso-Villaverde ◽  
Blai Coll ◽  
...  
Keyword(s):  
General Population ◽  
Protease Inhibitor ◽  
Hdl Cholesterol ◽  
Hiv Positive ◽  
Progressive Reduction ◽  
Cholesterol Ratio ◽  
Gene Variation ◽  
Highly Active ◽  
Apolipoprotein A ◽  
Apoa5 Gene

Abstract Background: Hyperlipidemia associated with the protease inhibitor (PI) component of highly active antiretrovial treatment can lead to accelerated atherosclerosis. The apolipoprotein A-V (APOA5) gene, which affects VLDL production and lipolysis, may play a role in PI-induced hyperlipidemia, particularly in individuals with the APOA5–1131T→C genotype. Methods: We measured lipoprotein changes in HIV-positive patients (n = 229) who had been followed for 5 years. For statistical analyses, we segregated the patients with respect to PI treatment and APOA5–1131T→C genotype. Results: The frequency of the C allele was 0.08, similar to that in the general population. We found a strong effect of the APOA5–1131T→C genotype among patients receiving PIs. Carriers of the C allele had consistently increased mean (SD) triglyceride concentrations compared with noncarriers after 1 year [2.11 (1.62) vs 3.71 (4.27) mmol/L; P = 0.009], 2 years [2.48 (2.09) vs 4.02 (4.05) mmol/L, P = 0.050], 3 years [2.32 (1.71) vs 4.13 (4.26) mmol/L; P = 0.013], 4 years [2.90 (2.95) vs 5.35 (7.12) mmol/L; P was not significant], and 5 years [4.25 (5.58) vs 9.23 (9.63) mmol/L; P was not significant]. We observed the same effect on total cholesterol concentrations: after 1 year [4.93 (1.31) vs 5.87 (1.66) mmol/L; P = 0.006], 2 years [5.03 (1.12) vs 6.42 (2.48) mmol/L; P = 0.001], 3 years [5.11 (1.17) vs 6.38 (2.43) mmol/L; P = 0.009], 4 years [5.49 (1.71) vs 6.78 (3.03) mmol/L; P was not significant], and 5 years [5.56 (1.75) vs 7.90 (3.60) mmol/L; P was not significant]. HDL cholesterol showed a progressive reduction, leading to a considerably higher cholesterol/HDL cholesterol ratio after 3 years. Conclusion: Variability in the APOA5 gene predisposes patients with HIV, particularly those treated with PI, to severe hyperlipidemia.

scholarly journals RMR-Related MAP2K6 Gene Variation on the Risk of Overweight/Obesity in Children: A 3-Year Panel Study

2021 ◽  
Vol 11 (2) ◽  
pp. 91
Author(s):  
Myoungsook Lee ◽  
Yunkyoung Lee ◽  
Inhae Kang ◽  
Jieun Shin ◽  
Sungbin R. Sorn
Keyword(s):  
Dietary Intake ◽  
Resting Metabolic Rate ◽  
Panel Study ◽  
Snp Array ◽  
Fat Intake ◽  
Nucleotide Polymorphisms ◽  
Korean Children ◽  
Gene Variation ◽  
Genome Wide ◽  
Prevalence Of Obesity

From a pilot GWAS, seven MAP2K6 (MEK6) SNPs were significantly associated with resting metabolic rate (RMR) in obese children aged 8–9 years. The aim of this study was to investigate how RMR-linked MEK6 variation affected obesity in Korean children. With the follow-up students (77.9%) in the 3-year panel study, the changes of the variables associated with obesity (such as anthropometrics, blood biochemistry, and dietary intake) were collected. After the MEK6 SNPs were screened by Affymetrix Genome-Wide Human SNP array 6.0, the genotyping of the seven MEK6 SNPs was performed via SNaPshot assay. As the prevalence of obesity (≥85th percentile) increased from 19.4% to 25.5%, the rates of change of the variables RMR, body mass index (BMI), waist circumference (WC), systolic blood pressure (SBP), and dietary intake (energy and carbohydrate intakes) increased. The rate of overweight/obesity was higher in all mutant alleles of the seven MEK6 SNPs than it was in the matched children without mutant alleles. However, over the 3-year study period, RMRs were only significantly increased by the mutants of two single nucleotide polymorphisms (SNPs), rs996229 and rs756942, mainly related to male overweight/obesity as both WC and SBP levels increased. In the mutants of two of the SNPs, the odds ratio of overweight/obesity risk was six times higher in the highest tercile of fat intake and SBP than those of the lowest tercile. For personalized medicine to prevent pediatric obesity, SBP, WC, and dietary fat intake should be observed, particularly if boys have mutants of MEK6 SNPs, rs9916229, or rs756942.

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