scholarly journals The Polymorphism rs2293855 MTMR9 Gene and Genetic Score Are Associated With Higher Atherogenic Risk in Brazilian Schoolchildren

2021 ◽  
Author(s):  
Mariane Silva ◽  
Cristina Maria Mendes Resende ◽  
Maíra Barros Louro ◽  
Sarah Aparecida Vieira Ribeiro ◽  
Sylvia do Carmo Castro Franceschini ◽  
...  
Keyword(s):  
Lipid Profile ◽  
Risk Score ◽  
Genetic Risk ◽  
Profile Analysis ◽  
Genetic Risk Score ◽  
Atherogenic Index ◽  
Nucleotide Polymorphisms ◽  
Genetic Score ◽  
Cross Sectional ◽  
Brazilian Children

Abstract Purpose: Evaluate the associations of FTO (rs9939609), MC4R (rs17782313), MTMR9 (rs2293855), and the genetic score with atherogenic risk in Brazilian children. Methods: This is a cross-sectional study conducted with 544 children aged 4 to 9 years old. We obtained sociodemographic and lifestyle data by questionnaires, and biological sample (DNA) through oral swab. The single nucleotide polymorphisms (SNP) FTO (rs9939609), MC4R (rs17782313), and MTMR9 (rs2293855) were identified by the system taqman SNP genotyping and evaluated the obesity-related genetic risk score. Blood samples were collected for the lipid profile analysis (serum total cholesterol, HDLc, LDL-c, triglycerides). The atherogenic indexes (Castelli I and II indexes, atherogenic coefficient - AC, lipoprotein combination index - LCI and plasma atherogenic index - AIP) were calculated. We compared the distributions of outcomes (lipid profile and atherogenic indexes) by genotype categories using multivariable linear regression. Results: Children with AG/AA genotypes in the polymorphism MTMR9 (rs2293855), had lower HDL-c level and higher TC/HDL-c, LDL-c/HDL-c ratios, and AC. Those with one or more polymorphisms (FTO rs9939609, MC4R rs17782313, and MTMR9 rs2293855) in the genetic risk score had lower HDL-c and higher TC/HDL-c, AC, LCI, and AIP. Conclusion: The risk allele (AG/AA) of the MTMR9 (rs2293855) and the higher obesity-related genetic risk score were positively associated with higher atherogenic risk in Brazilian children.

Will patient’s genetic profile help to choose treatment method of atrial fibrillation?

2019 ◽  
Vol 3 (52) ◽  
pp. 29-30
Author(s):  
Artur Fuglewicz
Keyword(s):  
Atrial Fibrillation ◽  
Single Nucleotide Polymorphisms ◽  
Risk Score ◽  
Genetic Risk ◽  
Genetic Risk Score ◽  
Treatment Method ◽  
Genetic Profile ◽  
Nucleotide Polymorphisms ◽  
Genetic Score ◽  
Single Nucleotide

The paper comments an attempt of genetic score creation of potential atrial fibrillation ablation failure or recurrence AF. This genetic risk score is based on single nucleotide polymorphisms (SNPs) analysis.

scholarly journals Development of a Genetic Risk Score to predict the risk of overweight and obesity in European adolescents from the HELENA study

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Miguel Seral-Cortes ◽  
Sergio Sabroso-Lasa ◽  
Pilar De Miguel-Etayo ◽  
Marcela Gonzalez-Gross ◽  
Eva Gesteiro ◽  
...  
Keyword(s):  
Risk Score ◽  
Genetic Predisposition ◽  
Genetic Risk ◽  
Healthy Lifestyle ◽  
Genetic Risk Score ◽  
Significant Snps ◽  
Overweight And Obesity ◽  
Nucleotide Polymorphisms ◽  
Cross Sectional ◽  
Risk Alleles

AbstractObesity is the result of interactions between genes and environmental factors. Since monogenic etiology is only known in some obesity-related genes, a genetic risk score (GRS) could be useful to determine the genetic predisposition to obesity. Therefore, the aim of our study was to build a GRS able to predict genetic predisposition to overweight and obesity in European adolescents. A total of 1069 adolescents (51.3% female), aged 11–19 years participating in the Healthy Lifestyle in Europe by Nutrition in Adolescence (HELENA) cross-sectional study were genotyped. The sample was divided in non-overweight (non-OW) and overweight/obesity (OW/OB). From 611 single nucleotide polymorphisms (SNP) available, a first screening of 104 SNPs univariately associated with obesity (p < 0.20) was established selecting 21 significant SNPs (p < 0.05) in the multivariate model. Unweighted GRS (uGRS) was calculated by summing the number of risk alleles and weighted GRS (wGRS) by multiplying the risk alleles to each estimated coefficient. The area under curve (AUC) was calculated in uGRS (0.723) and wGRS (0.734) using tenfold internal cross-validation. Both uGRS and wGRS were significantly associated with body mass index (BMI) (p < .001). Both GRSs could potentially be considered as useful genetic tools to evaluate individual’s predisposition to overweight/obesity in European adolescents.

scholarly journals Independent and combined associations between fast-food outlet exposure and genetic risk for obesity: a population-based, cross-sectional study in the UK

BMC Medicine ◽  
2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Thomas Burgoine ◽  
Pablo Monsivais ◽  
Stephen J. Sharp ◽  
Nita G. Forouhi ◽  
Nicholas J. Wareham
Keyword(s):  
Genetic Risk ◽  
Fast Food ◽  
Genetic Risk Score ◽  
Population Based ◽  
Overweight And Obesity ◽  
Nucleotide Polymorphisms ◽  
Food Outlet ◽  
Cross Sectional ◽  
Fast Food Outlet ◽  
Common Genetic Variants

Abstract Background Characteristics of the built environment, such as neighbourhood fast-food outlet exposure, are increasingly recognised as risk factors for unhealthy diet and obesity. Obesity also has a genetic component, with common genetic variants explaining a substantial proportion of population-level obesity susceptibility. However, it is not known whether and to what extent associations between fast-food outlet exposure and body weight are modified by genetic predisposition to obesity. Methods We used data from the Fenland Study, a population-based sample of 12,435 UK adults (mean age 48.6 years). We derived a genetic risk score associated with BMI (BMI-GRS) from 96 BMI-associated single nucleotide polymorphisms. Neighbourhood fast-food exposure was defined as quartiles of counts of outlets around the home address. We used multivariable regression models to estimate the associations of each exposure, independently and in combination, with measured BMI, overweight and obesity, and investigated interactions. Results We found independent associations between BMI-GRS and risk of overweight (RR = 1.34, 95% CI 1.23–1.47) and obesity (RR = 1.73, 95% CI 1.55–1.93), and between fast-food outlet exposure and risk of obesity (highest vs lowest quartile RR = 1.58, 95% CI 1.21–2.05). There was no evidence of an interaction of fast-food outlet exposure and genetic risk on BMI (P = 0.09), risk of overweight (P = 0.51), or risk of obesity (P = 0.27). The combination of higher BMI-GRS and highest fast-food outlet exposure was associated with 2.70 (95% CI 1.99–3.66) times greater risk of obesity. Conclusions Our study demonstrated independent associations of both genetic obesity risk and neighbourhood fast-food outlet exposure with adiposity. These important drivers of the obesity epidemic have to date been studied in isolation. Neighbourhood fast-food outlet exposure remains a potential target of policy intervention to prevent obesity and promote the public’s health.

Dopamine Receptor Genes Modulate Associative Memory in Old Age

2017 ◽  
Vol 29 (2) ◽  
pp. 245-253 ◽  
Author(s):  
Goran Papenberg ◽  
Nina Becker ◽  
Beata Ferencz ◽  
Moshe Naveh-Benjamin ◽  
Erika J. Laukka ◽  
...  
Keyword(s):  
Older Adults ◽  
Episodic Memory ◽  
Associative Memory ◽  
Genetic Risk ◽  
Genetic Risk Score ◽  
Memory Task ◽  
Population Based ◽  
Item Memory ◽  
Nucleotide Polymorphisms ◽  
Genetic Score

Previous research shows that associative memory declines more than item memory in aging. Although the underlying mechanisms of this selective impairment remain poorly understood, animal and human data suggest that dopaminergic modulation may be particularly relevant for associative binding. We investigated the influence of dopamine (DA) receptor genes on item and associative memory in a population-based sample of older adults (n = 525, aged 60 years), assessed with a face–scene item associative memory task. The effects of single-nucleotide polymorphisms of DA D1 (DRD1; rs4532), D2 (DRD2/ANKK1/Taq1A; rs1800497), and D3 (DRD3/Ser9Gly; rs6280) receptor genes were examined and combined into a single genetic score. Individuals carrying more beneficial alleles, presumably associated with higher DA receptor efficacy (DRD1 C allele; DRD2 A2 allele; DRD3 T allele), performed better on associative memory than persons with less beneficial genotypes. There were no effects of these genes on item memory or other cognitive measures, such as working memory, executive functioning, fluency, and perceptual speed, indicating a selective association between DA genes and associative memory. By contrast, genetic risk for Alzheimer disease (AD) was associated with worse item and associative memory, indicating adverse effects of APOE ε4 and a genetic risk score for AD (PICALM, BIN1, CLU) on episodic memory in general. Taken together, our results suggest that DA may be particularly important for associative memory, whereas AD-related genetic variations may influence overall episodic memory in older adults without dementia.

scholarly journals Impact of genetic risk score on the association between male childlessness and cardiovascular disease and mortality

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Angel Elenkov ◽  
Olle Melander ◽  
Peter M. Nilsson ◽  
He Zhang ◽  
Aleksander Giwercman
Keyword(s):  
Cardiovascular Disease ◽  
Risk Score ◽  
Predictive Models ◽  
Genetic Risk ◽  
Strong Predictor ◽  
Genetic Risk Score ◽  
Mortality Data ◽  
Nucleotide Polymorphisms ◽  
Genetic Traits ◽  
Cvd Mortality

AbstractChildless men are reported to have a higher risk of cardiovascular disease (CVD) and mortality. Information on inherited genetic risk for CVD has improved the predictive models. Presuming that childlessness is a proxy of infertility we aimed to investigate if childless men inherit more often genetic traits for CVD and if combining genetic and parenthood information improves predictive models for CVD morbidity and mortality. Data was sourced from a large prospective population-based cohort where genetic risk score (GRS) was calculated using two sets of either 27 (GRS 27) or 50 (GRS 50) single nucleotide polymorphisms (SNPs) previously found to be associated with CVD. Part of the participants (n = 2572 men) were randomly assigned to a sub-cohort with focus on CVD which served as an exploratory cohort. The obtained statistically significant results were tested in the remaining (confirmatory) part of the cohort (n = 9548 men). GRS distribution did not differ between childless men and fathers (p-values for interaction between 0.29 and 0.76). However, when using fathers with low GRS as reference high GRS was a strong predictor for CVD mortality, the HR (95% CI) increasing from 1.92 (1.10–3.36) for GRS 50 and 1.54 (0.87–2.75) for GRS 27 in fathers to 3.12 (1.39–7.04) for GRS50 and 3.73 (1.75–7.99) for GRS27 in childless men. The confirmatory analysis showed similar trend. Algorithms including paternal information and GRS were more predictive for CVD mortality at 5 and 10 years follow-ups when compared to algorithms including GRS only (AUC 0.88 (95% CI 0.84–0.92) and 0.86 (95% CI 0.84–0.90), and, AUC 0.81 (95% CI 0.75–0.87) and 0.78 (95% CI 0.73–0.82), respectively). Combining information on parental status and GRS for CVD may improve the predictive power of risk algorithms in middle-aged men. Childless men and those with severe infertility problem may be an important target group for prevention of CVD.

Abstract 18093: Bleeding Events in Clopidogrel-Treated Patients with STEMI is Associated with a Genetic Risk Score Based on High-Risk Genetic Polymorphisms

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Jia-Hui Zhang ◽  
Jin-Qing Yuan ◽  
Xian-Min Meng ◽  
Xiao-Fang Tang ◽  
Jing Wang ◽  
...  
Keyword(s):  
High Risk ◽  
Risk Score ◽  
Major Bleeding ◽  
Genetic Risk ◽  
Genetic Risk Score ◽  
Multivariate Logistic Regression Analysis ◽  
Bleeding Events ◽  
Genetic Score ◽  
Clinical Safety ◽  
Increased Risk

Introduction: Gene polymorphisms of ABCB1, CYP2C19, PON1 and P2Y12 may influence pharmacodynamics and clinical events of clopidogrel treatment. Hypothesis: We assessed the hypothesis that a genetic risk score based on identified high-risk single nucleotide polymorphisms (SNPs) would be associated with bleedings in clopidogrel-treated Chinese STEMI patients after percutaneous coronary intervention (PCI). Methods: A total of 503 consecutive patients with STEMI who received an uneventful PCI and were exposed to clopidogrel treatment for 12 months, were enrolled in the single-center registry. There were 38 tag SNPs selected from ABCB1, CYP2C19, PON1 and P2Y12 genes, which were detected by the ligase detection reaction. The primary clinical safety endpoint was the incidence of major bleeding events. Major bleeding was quantified according to bleeding academic research consortium definition (BARC) criteria, including type 3 and 5 in the analysis. The follow-up period was 12 months. Results: Overall, 46 BARC≥3 bleeding events (9.1%) occurred, which included 11 (2.1%) cases of BARC 3b bleedings and 35 (7.0%) cases of BARC 3a bleedings. After adjustment for traditional clinical risk factors, multivariate logistic regression analysis identified SNPs significantly associated with bleedings were ABCB1 (rs1045642, rs2235047, rs7779562), P2Y12 (rs6809699) and CYP2C19*17. A genetic risk score was constructed by summing the number of risk alleles. Bleedings were significantly associated with increased genetic risk score tertile. Patients in the top tertile of the genetic score were estimated to have a 3.268-fold (95%CI=1.198-8.929, p=0.021) increased risk of bleedings compared with those in the bottom tertile. As a continuous variable, the risk score resulted in an OR of 1.326 per unit increase in score (95%CI=1.098-1.601, p=0.003). Conclusions: This genetic score was significantly associated with bleedings after PCI in our study population.

scholarly journals Vitamin D genes influence MS relapses in children

2019 ◽  
Vol 26 (8) ◽  
pp. 894-901 ◽  
Author(s):  
Jennifer S Graves ◽  
Lisa F Barcellos ◽  
Lauren Krupp ◽  
Anita Belman ◽  
Xiaorong Shao ◽  
...  
Keyword(s):  
Vitamin D ◽  
Risk Score ◽  
Genetic Risk ◽  
Cox Regression ◽  
Genetic Risk Score ◽  
Carrier Status ◽  
Nucleotide Polymorphisms ◽  
Discovery Cohort ◽  
Hydroxyvitamin D ◽  
Disease Modifying Therapy

Objective: The aim of this study was to determine whether a vitamin D genetic risk score (vitDGRS) is associated with 25-hydroxyvitamin D (25(OH)D) level and multiple sclerosis (MS) relapses in children. Methods: DNA samples were typed for single nucleotide polymorphisms (SNPs) from four genes previously identified to be associated with 25(OH)D levels. SNPs with strong associations with 25(OH)D after multiple comparison correction were used to create a genetic risk score (vitDGRS). Cox regression models tested associations of vitDGRS with relapse hazard. Results: Two independent SNPs within or near GC and NADSYN1/DHCR7 genes were strongly associated with 25(OH)D levels in the discovery cohort ( n = 182) after Bonferroni correction. The vitDGRS of these SNPs explained 4.5% of the variance of 25(OH)D level after adjustment for genetic ancestry. Having the highest versus lowest vitDGRS was associated with 11 ng/mL lower 25(OH)D level (95% confidence interval (CI) = −17.5, −4.5, p = 0.001) in the discovery cohort. Adjusting for ancestry, sex, disease-modifying therapy (DMT), and HLA-DRB1*15 carrier status, the highest versus lowest vitDGRS was associated with 2.6-fold (95% CI = 1.37, 5.03, p = 0.004) and 2.0-fold (95% CI = 0.75, 5.20, p = 0.16) higher relapse hazard in the discovery and replication cohorts, respectively. Conclusion: The vitDGRS identifies children at greater risk of relapse. These findings support a causal role for vitamin D in MS course.

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