Skip to main content

Home/ Dr. Goodyear/ Group items tagged SNPs

Rss Feed Group items tagged

Nathan Goodyear

The monounsaturated fatty acid intake modulates the effect of ADIPOQ polymorphisms on o... - 0 views

  •  
    Epigenetics: the interplay between genetics and the environment.  They influence each other.  This study shows how genetic SNPs influence the impact of lipid metabolism in overweight white people.  The genetic SNPs influenced how the individuals metabolized dietary fat intake.
Nathan Goodyear

The effect of common genetic variati... [J Clin Endocrinol Metab. 2012] - PubMed - NCBI - 0 views

  •  
    hyperactive HPA axis associated with depression. This is becoming evident in the literature.  This study looked at SNPS in the etiology of elevated cortisol and/or androstenedione.  They followed the results with saliva and found that 3 SNPS were associated with increased 11Beta-HSD1 activity and associated increased depression.
Nathan Goodyear

Genetic Determinants of Serum Testosterone Concentrations in Men - 0 views

  • mean serum testosterone concentrations were found to be lower in men with GG than in those with TT genotype for rs12150660
  • men with the CT genotype for rs6258 had lower serum testosterone concentrations than those with CC genotype.
  • The two autosomal SNPs identified by GWAS had a significant influence on the risk of having low serum testosterone (serum testosterone <300 ng/dl) in both the discovery and the replication cohorts with a combined odds ratio (OR) per minor allele of 0.72 (95% CI, 0.65 – 0.79) and 2.7 (95% CI, 2.1 – 3.5) for rs12150660 and rs6258, respectively
  • ...3 more annotations...
  • The risk of having low serum testosterone concentrations increased by the number of risk alleles with an OR of 1.62 (95% CI, 1.41 – 1.86) for each risk allele (Figure S4). Low serum testosterone concentrations were 6.5-times more prevalent in men with ≥3 risk alleles (30.1% prevalence of low serum testosterone) compared to men without any risk allele (4.6% prevalence of low serum testosterone;
  • SNP rs5934505 was associated with serum testosterone without SHBG-adjustment (combined p-value of 1.7×10−9) and with free testosterone (combined p-value of 6.7×10−15), but not with SHBG
  • The mean serum testosterone and calculated free testosterone but not SHBG concentrations were lower in men with T genotype than in those with C genotype for rs5934505
  •  
    Genetic SNP rs5934505 associated with lower total Testosterone and lower calculated free Testosterone.  No effects on SHBG.
Nathan Goodyear

The rs5934505 single nucleotide polymorphism (SNP) is associated with low testosterone ... - 0 views

  •  
    Four SNPs, rs12150660, rs727428, rs5934505, and rs10822184 associated with late-onset hypogonadism (low T) and obesity in men of European descent.  In Chinese populations, rs5934505 was associated with increased risk of low Total Testosterone and calculated free Testosterone.  OR was 2.01 for low TT and 2.14 for low calculated free Testosterone.
Nathan Goodyear

Genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers | Annals of Onc... - 0 views

  •  
    BRCA are actually SNPs. Great up to date review on the risks of BRCA1 and BRCA1 and the SNPs involved.
Nathan Goodyear

Genetic Determinants of Serum Testosterone Concentrations in Men - 0 views

  •  
    SNP as significant contributor to low Testosterone in men via SHBG polymorphism and reduces the free Testosterone.
Nathan Goodyear

The Single Nucleotide Polymorphism Gly482Ser in the PGC-1α Gene Impairs Exerc... - 0 views

  • Oxidative slow-twitch type I fibres (henceforth briefly called ‘slow fibres’) contain MHC-Iβ. They use oxidative phosphorylation (OXPHOS) to generate ATP and are thus highly fatigue resistant and preferentially activated during endurance exercise. Slow fibres comprise high amounts of mitochondria, myoglobin and lipid droplets, and are well supplied by capillaries
  • there are three types of fast-twitch fibres (types IIA, IID/X, IIB, with the corresponding MHC isoforms IIa, IId/x, IIb) which are all used for rapid high-force generation. Oxidative-glycolytic fast-twitch type IIA fibres have intermediate amounts of mitochondria, lipid droplets and capillaries, and are intermediately resistant to fatigue (as compared to type I and types IIB and IID/X). Glycolytic fast-twitch type IID/X fibres are poor in mitochondria, lipids and capillaries and more susceptible to fatique than type IIA. Glycolytic fast-twitch type IIB fibres have the lowest amounts of mitochondria, lipid droplets and capillaries, but generate the highest contraction velocities
  • Several studies have shown that PGC-1α is upregulated after endurance training
  • ...3 more annotations...
  • upregulation of PGC-1α expression enhances and/or maintains mitochondrial biogenesis, eventually leading to an increased mitochondrial content of the muscle fibres.
  • PGC-1α also plays an important role in the pathogenesis of insulin resistance and T2D
  • carriers of the Gly482Ser SNP have a reduced cardiorespiratory fitness and a higher risk for metabolic syndrome and T2D
  •  
    Those that carry the risk SNP for Gly482Ser for the PGC-1alpha gene dont' transform type II to type I and thus decrease the effectiveness of aeorbic exercise training, decreased oxidative phosphorylation, decreased lipid oxidation, increased lipid accumulaiton in muscle, and increased risk of IR, obesity, and diabetes.
Nathan Goodyear

Genetic Analysis of 16 NMR-Lipoprotein Fractions in H... [Lipids. 2012] - PubMed - NCBI - 0 views

  •  
    genetic SNPs play a role in lipid/fat metabolism. A person's weight problem may be, in part, a genetic problem of fat metabolism.
Nathan Goodyear

Large Differences in Testosterone Excretion in Korean and Swedish Men Are Strongly Asso... - 0 views

  •  
    men with UGT2B17 found to be poor metabolizers of endogenous Testosterone.  Normally, epi-Testosterone and Testosterone exist in a relative 1:1 ratio,  However, in these individuals with this SNP, they will have slightly elevated Testosterone levels due to disrupted phase II testosterone metabolism (glucuronidation).  This is found in 60% of Asian men, 50% of black men, and 1% in white men.
Nathan Goodyear

Variation in the 4q25 Chromosomal Locus Predicts Atrial Fibrillation After Coronary Art... - 0 views

  •  
    SNP in 4q25 associated with increased Atrial fibrillation post coronary artery bypass.
Nathan Goodyear

Molecular Autism | Full text | Non-synonymous single-nucleotide variations of the human... - 0 views

  •  
    Oxytocin receptor SNPs may contribute to some of the biochemical dysfunction found in autism.
Nathan Goodyear

Mendelian randomization suggests non-causal associations of testosterone with cardiomet... - 0 views

  •  
    Study questions causal associations of testosterone and cardiometabolic risk.  In this analysis they used to SNPs, one on the SHBG gene rs12150660 and the other on the X chromosome rs59344505.
Nathan Goodyear

Estrogen receptor ß genes associated with colorectal cancer mortality - 0 views

  •  
    Additional support for ER beta role in protection in colon cancer.  This study found that SNPs in ER beta transcription resulted in reduced ER beta expression and a resultant increase in carcinogenesis.
Nathan Goodyear

https://www.researchgate.net/publication/23792166_Genome-Wide_Association_Study_of_Plas... - 0 views

  •  
    Only abstract available here. Good discussion of PUFA interactions with different genetic SNPs i.e. ELOVL2 and FADS1/2...
Nathan Goodyear

Meta-Analysis of BRCA1 and BRCA2 Penetrance - 0 views

  • The resulting cumulative risks by age 70 years are as follows: breast cancer risk of 55% (95% CI, 50% to 59%) for BRCA1 and 47% (95% CI, 42% to 51%) for BRCA2 mutation carriers;and ovarian cancer risk of 39% (95% CI,34% to 45%) for BRCA1 and 17% (95% CI,13% to 21%) for BRCA2 mutation carriers
  •  
    good meta-analysis and discussion of the heterogenous penetrance of BRCA1 and BRCA2.  This study found lower penetrance compared to previous studies i.e. 55% breast cancer risk and 39% ovarian cancer risk in BRCA1
1 - 15 of 15
Showing 20 items per page