scholarly journals Association of age-related cataract risk high polygenetic risk scores involved in galactose-related metabolism and dietary interactions

2021 ◽  
Author(s):  
Donghyun Jee ◽  
Suna Kang ◽  
Sunmin Park

Introduction: Cataracts are associated with the accumulation of galactose and galactitol in the lens. We determined the polygenetic risk scores for the best model(PRSBM) associated with age-related cataract(ARC) risk and their interaction with diets and lifestyles in 40,262 Korean adults aged over 50 years belonged to a hospital-based city cohort. Methods: The genetic variants for ARC risk were selected in lactose and galactose metabolism-related genes with multivariate logistic regression using the PLINK 1.9 version. PRSBM from the selected genetic variants was estimated by generalized multifactor dimensionality reduction (GMDR) after adjusting covariates. The interactions between the PRSBM and each lifestyle factor were determined to modulate ARC risk. Results: The genetic variants for ARC risk related to lactose- and galactose metabolism were SLC2A1_rs3729548, ST3GAL3_rs3791047, LCT_rs2304371, GALNT5_rs6728956, ST6GAL1_rs2268536, GALNT17_rs17058752, CSGALNACT1_rs1994788, GALNTL4_rs10831608, B4GALT6_rs1667288, and A4GALT_ rs9623659. In GMDR, the best model included all ten genetic variants. The highest odds ratio (OR) for a single SNP in the PRSBM was 1.26. However, subjects with a high-PRSBM had a higher ARC risk by 2.1-fold than a low-PRSBM after adjusting for covariates. Carbohydrate, dairy products, kimchi, and alcohol intake interacted with PRSBM for ARC risk: the participants with high-PRSBM had a much higher ARC risk than those with low-PRSBM when consuming diets with high carbohydrate and low dairy product and kimchi intake. However, only with low alcohol intake, the participants with high-PRSBM had a higher ARC risk than those with low-PRSBM. Conclusion: Adults aged >50 years having high-PRSBM may modulate dietary habits to reduce ARC risk.

2014 ◽  
Vol 111 (9) ◽  
pp. 1673-1679 ◽  
Author(s):  
Bamini Gopinath ◽  
Victoria M. Flood ◽  
Jimmy C. Y. Louie ◽  
Jie Jin Wang ◽  
George Burlutsky ◽  
...  

Habitual consumption of dairy products has been shown to play an important role in the prevention of several chronic diseases. We aimed to prospectively assess the relationship between the change in dairy product consumption (both regular fat and low/reduced fat) and the 15-year incidence of age-related macular degeneration (AMD). In the Blue Mountains Eye Study, 2037 participants aged 49 years or above at baseline were re-examined at follow-up in 1997–9, 2002–4 and/or 2007–9. AMD was assessed from retinal photographs. Dietary data were collected using a semi-quantitative FFQ, and servings of dairy product consumption calculated. Over the 15-year follow-up, there were 352, 268 and eighty-four incident cases of any, early and late AMD, respectively. After adjusting for age, sex, current smoking, white cell count and fish consumption, a significant linear trend (Pfor trend = 0·003) was observed with decreasing consumption of total dairy foods and the 15-year incidence of late AMD, comparing the lowestv.highest quintile of intake (OR 2·80, 95 % CI 1·21, 3·04). Over the 15 years, decreased consumption of reduced-fat dairy foods was associated with an increased risk of incident late AMD, comparing the lowest to highest quintile of intake (OR 3·10, 95 % CI 1·18, 8·14,Pfor trend = 0·04). Decreasing total dietary Ca intake over the 15 years was also associated with an increased risk of developing incident late AMD (multivariable-adjustedPfor trend = 0·03). A lower consumption of dairy products (regular and low fat) and Ca was independently associated with a higher risk of developing incident late AMD in the long term. Additional cohort studies are needed to confirm these findings.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Christina Kiel ◽  
Christoph A. Nebauer ◽  
Tobias Strunz ◽  
Simon Stelzl ◽  
Bernhard H. F. Weber

AbstractThe currently largest genome-wide association study (GWAS) for age-related macular degeneration (AMD) defines disease association with genome-wide significance for 52 independent common and rare genetic variants across 34 chromosomal loci. Overall, these loci contain over 7200 variants and are enriched for genes with functions indicating several shared cellular processes. Still, the precise mechanisms leading to AMD pathology are largely unknown. Here, we exploit the phenomenon of epistatic interaction to identify seemingly independent AMD-associated variants that reveal joint effects on gene expression. We focus on genetic variants associated with lipid metabolism, organization of extracellular structures, and innate immunity, specifically the complement cascade. Multiple combinations of independent variants were used to generate genetic risk scores allowing gene expression in liver to be compared between low and high-risk AMD. We identified genetic variant combinations correlating significantly with expression of 26 genes, of which 19 have not been associated with AMD before. This study defines novel targets and allows prioritizing further functional work into AMD pathobiology.


2014 ◽  
Vol 62 (4) ◽  

A Fragility Fracture is nowadays looked upon to be the most important clinical symptom of osteoporosis. The sportive elderly have a limited risk to suffer from this event. Mechanical loading of the skeleton which is associated with most sporty activities prevents age related bone loss. Furthermore, if a fracture happens as a result from sporty activity, the criterion of a fragility fracture is usually not met. Elderly sportsmen who want to be reassured or who are going to restart activity after a break can be offered a fracture risk calculation by means of FRAX. Correct interpretation of the risk scores needs knowledge of the boundary conditions the algorithm is based on. In contrast a DEXA scan is rarely indicated in this situation. Vitamin D Supplementation can generally be adviced for every elderly person in our region, especially for the sportive ones. Sufficient intake of calcium and protein shall be achieved by a healthy diet. Despite of the risk of falling that is usually associated with any sportive activity it may be summarized, that there is less fractures in active people. As long as human beings stay mobile and active, pharmacological prevention or treatment of osteoporosis is rarely indicated. An exeption from this is osteoanabolic treatment of insufficiency and stress fractures. This shall be mentioned here even though it is an “off-label” use of the drugs.


2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
F.V Moniz Mendonca ◽  
M.I Mendonca ◽  
A Pereira ◽  
J Monteiro ◽  
J Sousa ◽  
...  

Abstract Background The risk for Coronary Artery Disease (CAD) is determined by both genetic and environmental factors, as well as by the interaction between them. It is estimated that genetic factors could account for 40% to 55% of the existing variability among the population (inheritability). Therefore, some authors have advised that it is time we integrated genetic risk scores into clinical practice. Aim The aim of this study was to evaluate the magnitude of the association between an additive genetic risk score (aGRS) and CAD based on the cumulative number of risk alleles in these variants, and to estimate whether their use is valuable in clinical practice. Methods A case-control study was performed in a Portuguese population. We enrolled 3120 participants, of whom 1687 were CAD patients and 1433 were normal controls. Controls were paired to cases with respect to gender and age. 33 genetic variants known to be associated with CAD were selected, and an aGRS was calculated for each individual. The aGRS was further subdivided into deciles groups, in order to estimate the CAD risk in each decile, defined by the number of risk alleles. The magnitude of the risk (odds ratio) was calculated for each group by multiple logistic regression using the 5th decile as the reference group (median). In order to evaluate the ability of the aGRS to discriminate susceptibility to CAD, two genetic models were performed, the first with traditional risk factors (TRF) and second with TRF plus aGRS. The AUC of the two ROC curves was calculated. Results A higher prevalence of cases over controls became apparent from the 6th decile of the aGRS, reflecting the higher number of risk alleles present (see figure). The difference in CAD risk was only significant from the 6th decile, increasing gradually until the 10th decile. The odds ratio (OR) for the last decile related to 5th decile (median) was 1.87 (95% CI:1.36–2.56; p<0.0001). The first model yielded an AUC=0.738 (95% CI:0.720–0.755) and the second model was slightly more discriminative for CAD risk (AUC=0.748; 95% CI:0.730–0.765). The DeLong test was significant (p=0.0002). Conclusion Adding an aGRS to the non-genetic risk factors resulted in a modest improvement in the ability to discriminate the risk of CAD. Such improvement, even if statistically significant, does not appear to be of real value in clinical practice yet. We anticipate that with the development of further knowledge about different SNPs and their complex interactions, and with the inclusion of rare genetic variants, genetic risk scores will be better suited for use in a clinical setting. Funding Acknowledgement Type of funding source: None


Nutrients ◽  
2021 ◽  
Vol 13 (2) ◽  
pp. 687
Author(s):  
Inmaculada Aguilera-Buenosvinos ◽  
Cesar Ignacio Fernandez-Lazaro ◽  
Andrea Romanos-Nanclares ◽  
Alfredo Gea ◽  
Rodrigo Sánchez-Bayona ◽  
...  

Dairy products might influence breast cancer (BC) risk. However, evidence is inconsistent. We sought to examine the association between dairy product consumption—and their subtypes—and incident BC in a Mediterranean cohort. The SUN (“Seguimiento Universidad de Navarra”) Project is a Spanish dynamic ongoing cohort of university graduates. Dairy product consumption was estimated through a previously validated 136-item food frequency questionnaire (FFQ). Incident BC was reported in biennial follow-up questionnaires and confirmed with revision of medical records and consultation of the National Death Index. Hazard ratios (HR) and 95% confidence intervals (CI) were estimated with Cox regression models. Among 123,297 women-years of follow-up (10,930 women, median follow-up 12.1 years), we confirmed 119 incident BC cases. We found a nonlinear association between total dairy product consumption and BC incidence (pnonlinear = 0.048) and a significant inverse association for women with moderate total dairy product consumption (HRQ2vs.Q1 = 0.49 (95% CI 0.28–0.84); HRQ3vs.Q1 = 0.49 (95% CI 0.29–0.84) ptrend = 0.623) and with moderate low-fat dairy product consumption (HRQ2vs.Q1 = 0.58 (95% CI 0.35–0.97); HRQ3vs.Q1 = 0.55 (95% CI 0.32–0.92), ptrend = 0.136). In stratified analyses, we found a significant inverse association between intermediate low-fat dairy product consumption and premenopausal BC and between medium total dairy product consumption and postmenopausal BC. Thus, dairy products, especially low-fat dairy products, may be considered within overall prudent dietary patterns.


Author(s):  
Niccolo’ Tesi ◽  
Sven J van der Lee ◽  
Marc Hulsman ◽  
Iris E Jansen ◽  
Najada Stringa ◽  
...  

Abstract Studying the genome of centenarians may give insights into the molecular mechanisms underlying extreme human longevity and the escape of age-related diseases. Here, we set out to construct polygenic risk scores (PRSs) for longevity and to investigate the functions of longevity-associated variants. Using a cohort of centenarians with maintained cognitive health (N = 343), a population-matched cohort of older adults from 5 cohorts (N = 2905), and summary statistics data from genome-wide association studies on parental longevity, we constructed a PRS including 330 variants that significantly discriminated between centenarians and older adults. This PRS was also associated with longer survival in an independent sample of younger individuals (p = .02), leading up to a 4-year difference in survival based on common genetic factors only. We show that this PRS was, in part, able to compensate for the deleterious effect of the APOE-ε4 allele. Using an integrative framework, we annotated the 330 variants included in this PRS by the genes they associate with. We find that they are enriched with genes associated with cellular differentiation, developmental processes, and cellular response to stress. Together, our results indicate that an extended human life span is, in part, the result of a constellation of variants each exerting small advantageous effects on aging-related biological mechanisms that maintain overall health and decrease the risk of age-related diseases.


Nutrients ◽  
2021 ◽  
Vol 13 (2) ◽  
pp. 702
Author(s):  
Alaitz Berriozabalgoitia ◽  
Juan Carlos Ruiz de Gordoa ◽  
Mertxe de Renobales ◽  
Gustavo Amores ◽  
Luis Javier R. Barron ◽  
...  

The questioned reliability of 15:0, 17:0, and trans9-16:1 acids as biomarkers of dairy fat intake also questions the relationship between the intake of these products and their health effects. Two studies were conducted in the same geographical region. In an intervention study, volunteers followed a diet rich in dairy products followed by a diet without dairy products. Plasma and erythrocyte fatty acids (FA) were analyzed, and their correlations with dairy product intakes were tested. The FA biomarkers selected were validated in the Gipuzkoa cohort of the European Prospective Investigation into Cancer and Nutrition (EPIC) observational study. The correlation coefficients between plasma concentrations of iso16:0, iso17:0, trans11-18:1, cis9, trans11-18:2, and cis6-18:1 and the dairy fat ingested are similar in both studies, indicating that their concentration increases by 0.8 µmol/L per gram of dairy fat ingested. The biomarkers are positively related to plasma triglycerides (r = 0.324 and 0.204 in the intervention and observational studies, respectively) and total cholesterol (r = 0.459 and 0.382), but no correlation was found between the biomarkers and atherogenicity indexes. In conclusion, the sum of the plasma concentration of the selected FAs can be used as biomarkers of dairy product consumption. A linear relationship exists between their plasma concentrations and ruminant product intake. These biomarkers allow for obtaining consistent relationships between dairy intake and plasma biochemical parameters.


2019 ◽  
Vol 6 ◽  
pp. 59-62
Author(s):  
Ranjana K.C. ◽  
Ganga Timilsina ◽  
Anjana Singh ◽  
Supriya Sharma

Objectives: To isolate methicillin resistant Staphylococcus aureus (MRSA) from anterior nares of dairy workers and dairy products and assess the antibiotic susceptibility pattern of the isolates. Methods: Swab samples collected from anterior nares of dairy workers and dairy product (butter) were inoculated into mannitol salt agar and incubated at 37ºC for 24 hours. Identification was done based on colony characteristics, Gram's staining, catalase, oxidase and coagulase test. Antibiotic susceptibility testing was done by modified Kirby Bauer disc diffusion method. MRSA was confirmed by using cefoxitin disc. Results: A total of 109 S. aureus (98 from dairy workers and 11 from butter samples) were isolated. Out of them 32 MRSA were isolated from dairy workers and 4 from butter samples. The association between age group and MRSA was found insignificant (p = 0.115). The association of MRSA between male and female workers was found significant (>0.05). About 86% of the MRSA isolates were susceptible to Gentamicin (86.11%) followed by Ciprofloxacin (77.78%). Conclusion: Detection of MRSA among dairy workers and dairy products warrants proper handling and adequate control measures to prevent transmission of MRSA from dairy industry.


2002 ◽  
Vol 69 (2) ◽  
pp. 335-341 ◽  
Author(s):  
EMMANUELLE TAVAN ◽  
CHANTAL CAYUELA ◽  
JEAN-MICHEL ANTOINE ◽  
PIERRETTE CASSAND

Antimutagenic properties of various dietary components have been investigated in many studies, in order to find compounds protective against the various steps of carcinogenesis. Indeed, cancer is now the principal cause of death in industrialised countries and treatment is still difficult. Thus, research in prevention is of extreme importance. While, the etiology of most cancers has an environmental component, colon or breast cancers are highly linked to dietary habits (up to 50% of colorectal cancers are due to diet; Riboli et al. 1996). In this context, Boutron et al. (1996) showed inverse correlation between consumption of dairy products and colorectal cancer in France.


2007 ◽  
Vol 98 (5) ◽  
pp. 1046-1057 ◽  
Author(s):  
Catherine Féart ◽  
Marthe A. Jutand ◽  
Sophie Larrieu ◽  
Luc Letenneur ◽  
Cécile Delcourt ◽  
...  

Few data are available regarding dietary habits of the elderly, in particular about fatty acid consumption, whereas these are major risk or protective factors of several age-related diseases. The aim of the present study was to characterise the dietary intake of a French elderly population in terms of energy, macronutrients and fatty acids based on their socio-demographic characteristics. The study population (age range 67·7–94·9 years) consisted of 1786 subjects from Bordeaux (France), included in the Three-City cohort. Dietary assessment was performed by a 24 h recall, allowing the estimation of energy, protein, carbohydrate, total fat, SFA, MUFA and PUFA intakes. Socio-demographic characteristics (age, sex, marital status, educational level and income), practice of sports and BMI were registered. Total energy intake (EI) was lower in women and in older participants ( ≥ 85 years) but higher in single subjects. Higher EI was associated with higher income, but not with educational level. Mean contribution of macronutrients to EI (protein 18 %, carbohydrate 46 % and total fat 31 %) was higher in women than men, except for alcohol. The oldest individuals consumed less protein and more mono- and disaccharides. Excess saturated fat intake (43 % of total fat), associated with a relative deficit in MUFA consumption (36 % of total fat), was observed. The mean 18 : 2n-6 : 18 : 3n-3 ratio was 9.9 and decreased with higher educational level. The present results suggest that being female, older age, being widowed and low income level could be considered as risk factors of inadequate dietary intake.


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