scholarly journals On the Estimation of Heritability with Family-Based and Population-Based Samples

2015 ◽  
Vol 2015 ◽  
pp. 1-9 ◽  
Author(s):  
Youngdoe Kim ◽  
Young Lee ◽  
Sungyoung Lee ◽  
Nam Hee Kim ◽  
Jeongmin Lim ◽  
...  

For a family-based sample, the phenotypic variance-covariance matrix can be parameterized to include the variance of a polygenic effect that has then been estimated using a variance component analysis. However, with the advent of large-scale genomic data, the genetic relationship matrix (GRM) can be estimated and can be utilized to parameterize the variance of a polygenic effect for population-based samples. Therefore narrow sense heritability, which is both population and trait specific, can be estimated with both population- and family-based samples. In this study we estimate heritability from both family-based and population-based samples, collected in Korea, and the heritability estimates from the pooled samples were, for height, 0.60; body mass index (BMI), 0.32; log-transformed triglycerides (log TG), 0.24; total cholesterol (TCHL), 0.30; high-density lipoprotein (HDL), 0.38; low-density lipoprotein (LDL), 0.29; systolic blood pressure (SBP), 0.23; and diastolic blood pressure (DBP), 0.24. Furthermore, we found differences in how heritability is estimated—in particular the amount of variance attributable to common environment in twins can be substantial—which indicates heritability estimates should be interpreted with caution.

Author(s):  
Tao Huang ◽  
Wenxiu Wang ◽  
Jingjia Wang ◽  
Jun Lv ◽  
Canqing Yu ◽  
...  

Abstract Objectives To examine the direction, strength and causality of the associations of resting heart rate (RHR) with cardiometabolic traits. Methods We assessed the strength of associations between measured RHR and cardiometabolic traits in 506,211 and 372,452 participants from China Kadoorie Biobank (CKB) and UK Biobank (UKB). Mendelian randomization (MR) analyses were used to make causal inferences in 99,228 and 371,508 participants from CKB and UKB, respectively. Results We identified significant, directionally-concordant observational associations between RHR and higher total cholesterol, triglycerides (TG), low-density lipoprotein, C-reactive protein (CRP), glucose, body mass index, waist-hip ratio (WHR), systolic blood pressure (SBP) and diastolic blood pressure (DBP) after the Bonferroni correction. MR analyses showed that 10 beat/min higher genetically-predicted RHR were trans-ethnically associated with a higher DBP (beta 2.059 [95%CI 1.544, 2.574] mmHg in CKB; 2.037 [1.845, 2.229] mmHg in UKB), higher CRP (0.180 [0.057, 0.303] log mg/L in CKB; 0.154 [0.134, 0.174] log mg/L in UKB), higher TG (0.052 [-0.009, 0.113] log mmol/L in CKB; 0.020 [0.010, 0.030] log mmol/L in UKB) and higher WHR (0.218 [-0.033, 0.469] % in CKB; 0.225 [0.111, 0.339] % in UKB). In the opposite direction, higher genetically-predicted SBP, TG, glucose, WHR and lower high-density lipoprotein were associated with elevated RHR. Conclusion Our large-scale analyses provide causal evidence between RHR and cardiometabolic traits, highlighting the importance of monitoring heat rate as a means of alleviating the adverse effect of metabolic disorders.


Hypertension ◽  
2013 ◽  
Vol 62 (suppl_1) ◽  
Author(s):  
Mohan Thanikachalam ◽  
Shasha Bai ◽  
Vijayakumar Harivanzan ◽  
Ragavendra R Baliga ◽  
William T Abraham ◽  
...  

Background Arterial stiffness assessed by carotid-femoral pulse wave velocity (PWV) is an independent predictor of cardiovascular morbidity and mortality. We aimed to investigate how various measures of obesity affect arterial stiffness. Methods We conducted a population-based cross-sectional survey in 8,042 South Indians above the age of 20 years. Following completion of a detailed medical history questionnaire, all participants underwent haemodynamic screening including brachial and central blood pressure, and PWV measurements using a high-fidelity applanation tonometry. The study included anthropometric measurements and fasting blood for total cholesterol (TC), triglyceride (TG), high density lipoprotein (HDL), low density lipoprotein (LDL) and blood glucose (BG) levels. After the exclusion of people with previous history of diabetes, hypertension and dyslipidemia on drug therapy, 5,841 subjects (mean age 41.6 years; 58% women) constituted the study sample Results In an univariate analysis, PWV correlated positively with age, mean blood pressure (MAP), heart rate (HR), body mass index (BMI), waist circumference (WC), waist to hip ratio (WHR), body fat percent (BF%), TC, TG, LDL and BG levels (P <0.001) and negatively with HDL levels (P=0.005). In a multivariate regression analysis, majority of the PWV variability in the model was accounted for by MAP and age, (cumulative adjusted R2 change of 32.79% as compared to the total adjusted R2 change of 35.25%). However, BMI (β= 0.042; adjusted R2 change=2.83%; p<0.001) independently correlated with PWV and its contribution to the PWV variability was far more significant compared to LDL, BG and TG (cumulative adjusted R2 change=1.08%). Multivariate regression analysis using the WC, WHR, or BF% instead of the BMI continued to demonstrate a significant independent effect of obesity parameters on PWV. Conclusion: In a large a population-based cross-sectional survey the study demonstrates a positive, independent association between obesity parameters and increased arterial stiffness.


2021 ◽  
Author(s):  
Yingchao Zhang ◽  
Fengran Xiong ◽  
Ruxuan Zhao ◽  
Tingting Shi ◽  
Jin-Kui Yang ◽  
...  

Abstract Backgound Impaired fasting glucose (IFG) is an invertible interim hyperglycemia period with an increasing risk of diabetes and related complications. Our study was designed to identify that the serum anion gap is related to the risk of progressing to IFG and diabetes. Methods We performed a prospective, population-based study among 1191 Chinese individuals aged 22-87 years who taken health examinations annually between 2006 and 2012 including clinical features and plasma metabolites. All of the participants had no history of diabetes or related chronic complications. We designed logistic regression analysis to examine the associations between clinical and metabolomic factors and the risk of developing to IFG or diabetes. Results Among them, 58 subjects whose fasting glucose were between 6.1 and 7 mmol/L were diagnosed as IFG or diabetes. After adjusting for age, gender, body mass index (BMI), low-density lipoprotein (LDL), high-density lipoprotein (HDL), alanine aminotransferase (ALT), aspartate aminotransferase (AST), systolic blood pressure (SBP), diastolic blood pressure (DBP), potassium and albumin at baseline, the participants in the upper tertiles of serum anion gap (SAG) are more likely to progress to IFG or diabetes than those in the lower tertiles. Receiver operating characteristic (ROC) curve analysis was used to predict incidence of IFG or diabetes. We found the optimal cutoff level for the anion gap was 13.76 mmol/L and the AUC (area under ROC curve) was 0.623. Conclusions Our data demonstrate that a higher SAG is associated with the risk of developing IFG or diabetes.


Nutrients ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 946
Author(s):  
Huidi Zhang ◽  
Yang Cao ◽  
Qingqing Man ◽  
Yuqian Li ◽  
Jiaxi Lu ◽  
...  

Background: Copper and zinc are both essential elements in humans, that play various biological roles in body functions. Population-based reference values have not yet been established in China especially in childbearing women. The aim of this study is to establish a reference value of Zn, Cu and Cu/Zn ratios in childbearing women aged 18–44 from a representative population in China. Method: A total of 191 healthy childbearing women aged 18–44 years old were enrolled from the China Adult Chronic Disease and Nutrition Surveillance (2015) in this study with a series strict inclusion criteria. Basic biological indicators (weight, height, waist, blood pressure, high-density lipoprotein cholesterol, low-density lipoprotein, total cholesterol, triglyceride, fast glycose, HbA1c, blood pressure, uric acid) and elements levels in plasma and whole blood were collected. The 2.5th to 97.5th was used to represent the reference range of Cu, Zn and Cu/Zn ratio. Results: The reference range of Zn, Cu and Cu/Zn ratio in plasma were 70.46–177.53 µg/dL, 74.30–170.68 µg/dL and 0.54–1.68, respectively. The reference range of Zn, Cu and Cu/Zn ratios in whole blood were 402.49–738.05, 74.63–124.52 and 0.13–0.25 µg/dL, respectively. Conclusion: The reference range of Zn, Cu and Cu/Zn ratios in plasma and whole blood of healthy Chinese childbearing women could be used as an indicator to evaluate the status of element deficiency and overload.


2020 ◽  
Author(s):  
Jiao Wang ◽  
Zhimin Wang ◽  
Feng Guo ◽  
Yinghui Zhang ◽  
Hongfei Ji ◽  
...  

Abstract Background The data regarding the association between main cardiometabolic morbidities such as diabetes, hypertension, and dyslipidemia and the subsequent risk of CVD events in Chinese adults are still limited. Therefore, we investigated the associations between individual and combined cardiometabolic morbidities and incident cardiovascular events in Chinese adults.Methods The China Cardiometabolic Disease and Cancer Cohort Study was a prospective, nationwide, and population-based cohort study of 20 Chinese communities from various geographic regions. A comprehensive set of questionnaires, clinical measurements, oral glucose tolerance tests (OGTTs), and laboratory examinations were carried out at baseline (2011-2012) and follow-up visits (2014-2016). 133572 participants aged ≥ 40 years who were free from cardiovascular disease (CVD) at baseline were included in the study.Results Compared with participants without diabetes, hypertension and dyslipidemia, participants with only diabetes (hazard ratio [HR], 1.58; 95% confidence interval [CI], 1.32-1.90) or only hypertension (2.04; 1.82-2.28) exhibited significantly higher risk for CVD events, while participants with only dyslipidemia (0.97; 0.84-1.12) exhibited no significantly higher risk for CVD events. When analyzed collectively, participants with diabetes plus hypertension (HR, 2.67; 95%CI, 2.33-3.06), diabetes plus dyslipidemia (1.57; 1.32-1.87), and hypertension plus dyslipidemia (2.12; 1.88-2.39) exhibited significantly higher risk for CVD events. Moreover, participants with the combination of diabetes, hypertension and dyslipidemia exhibited the highest risk for CVD events (HR, 3.06; 95%CI, 2.71-3.46). Multivariable-adjusted HRs (95% CIs) for CVD associated with diabetes based on fasting glucose ≥7.0 mmol/L, OGTT-2h glucose ≥11.1 mmol/L, and hemoglobin A1c ≥6.5% were 1.64 (1.51-1.78), 1.57 (1.45-1.69), and 1.54 (1.42-1.66), respectively; associated with hypertension based on systolic blood pressure ≥140 mmHg and diastolic blood pressure ≥90 mmHg were 1.89 (1.76-2.03) and 1.74 (1.60-1.88), respectively; associated with dyslipidemia based on total cholesterol ≥6.22 mmol/L, low-density lipoprotein cholesterol ≥4.14 mmol/L, high-density lipoprotein cholesterol <1.04 mmol/L, and triglycerides ≥2.26 mmol/L were 1.18 (1.08-1.30), 1.30 (1.17-1.44), 1.00 (0.92-1.09), and 1.10 (1.01-1.20), respectively. ConclusionsDiabetes, hypertension and dyslipidemia showed additive associations with the risk of CVD events in middle-aged and elderly Chinese adults.


2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Alireza Ahmadi ◽  
Mojgan Gharipour ◽  
Fatemeh Nouri ◽  
Nizal Sarrafzadegan

Aim. The present population-based study aimed to assess prevalence of metabolic syndrome and itsrelated components in Iranian youth in the different sex, age, and residential subgroups.Method. Overall, 1039 junior high school and 953 high school students were selected using multistage random sampling. Fasting blood sugar, total cholesterol, triglyceride, high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol (LDL-C) levels were determined. Trained individuals measured waist circumference and blood pressure. Subjects with MetS were selected according to two definitions provided by the IDF and de Ferranti.Results. Among girls in intervention area, hypertriglyceridemia was more prevalent in rural than in urban areas using IDF definition. Significant differences were observed between boys in rural and urban areas regarding some components of metabolic syndrome including hypertriglyceridemia and high waist circumference. Besides, boys who are residents in urban areas had higher blood pressure, as well as higher waist circumference, than boys in rural areas.Conclusion. Our youth population is at significant risk of developing metabolic syndrome, and the pattern of this phenomenon seems to be discrepant in boys as well as in rural and urban areas probably due to the different lifestyle aspects, genetic factors, and racial differences.


Nutrients ◽  
2019 ◽  
Vol 11 (7) ◽  
pp. 1482 ◽  
Author(s):  
Lau ◽  
Neves ◽  
Ferreira-Magalhães ◽  
Carvalho ◽  
Freitas

Gut microbiota dysbiosis has been recognized as having key importance in obesity- and metabolic-related diseases. Although there is increasing evidence of the potential benefits induced by probiotics in metabolic disturbances, there is a lack of large cross-sectional studies to assess population-based prevalence of probiotic intake and metabolic diseases. Our aim was to evaluate the association of probiotic ingestion with obesity, type 2 diabetes, hypertension, and dyslipidemia. A cross-sectional study was designed using data from the National Health and Nutrition Examination Survey (NHANES), 1999–2014. Probiotic ingestion was considered when a subject reported consumption of yogurt or a probiotic supplement during the 24-hour dietary recall or during the Dietary Supplement Use 30-Day questionnaire. We included 38,802 adults and 13.1% reported probiotic ingestion. The prevalence of obesity and hypertension was lower in the probiotic group (obesity-adjusted Odds Ratio (OR): 0.84, 95% CI 0.76–0.92, p < 0.001; hypertension-adjusted OR: 0.79, 95% CI 0.71–0.88, p < 0.001). Accordingly, even after analytic adjustments, body mass index (BMI) was significantly lower in the probiotic group, as were systolic and diastolic blood pressure and triglycerides; high-density lipoprotein (HDL) was significantly higher in the probiotic group for the adjusted model. In this large-scale study, ingestion of probiotic supplements or yogurt was associated with a lower prevalence of obesity and hypertension.


2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Yingchao Zhang ◽  
Fengran Xiong ◽  
Ruxuan Zhao ◽  
Tingting Shi ◽  
Jing Lu ◽  
...  

Impaired fasting glucose (IFG) is a reversible intermediate hyperglycemia stage with an increasing risk of diabetes and related complications. Our study was designed to identify the relationship between the serum anion gap and the risk of progressing to impaired fasting glucose and diabetes. Here, we performed a prospective, population-based study among 1191 Chinese individuals aged 22–87 years who took health examinations annually between 2006 and 2012 including clinical features and plasma metabolites. All of the participants had no history of diabetes or related chronic complications. Logistic regression analysis was designed to examine the associations between clinical and metabolomic factors and the risk of developing IFG or diabetes. Among them, 58 subjects whose fasting glucose were between 6.1 and 7 mmol/L were diagnosed as IFG or diabetes. After adjusting for age, sex, body mass index (BMI), high-density lipoprotein (HDL), low-density lipoprotein (LDL), alanine aminotransferase (ALT), aspartate aminotransferase (AST), systolic blood pressure (SBP), diastolic blood pressure (DBP), potassium, and albumin at baseline, the participants in the upper tertiles of serum anion gap (SAG) had higher odds of progressing to IFG or diabetes than those in the lower tertiles. A receiver operating characteristic (ROC) curve was analyzed, and the optimal cutoff level for the anion gap to predict incident IFG or diabetes was 13.76 mmol/L, and the area under the ROC curve (AUC) was 0.623. Our data demonstrate that a higher serum anion gap is associated with the risk of developing IFG or diabetes.


2021 ◽  
Author(s):  
Konstantinos Pappelis ◽  
Nomdo Jansonius

Purpose: To compare retinal oxygen delivery (DO2) and extraction (VO2) in ophthalmologically healthy subjects with different blood pressure (BP) status. Methods: In this case-control study, we prospectively included 93 eyes of 93 subjects (age 50-65) from a large-scale population-based Dutch cohort (n=167,000) and allocated them to four groups (low BP, normal BP [controls], treated arterial hypertension [AHT], untreated AHT). We estimated vascular calibers from fundus images and fractal dimension (FD) from optical coherence tomography angiography scans. We combined calibers, FD, BP, and intraocular pressure measurements in a proxy of total retinal blood flow (RBF), using a validated Poiseuille-based model. We measured arterial and venous oxygen saturations (SaO2, SvO2) with a two-wavelength scanning laser ophthalmoscope. We calculated DO2 and VO2 from RBF, SaO2, and SvO2. We compared DO2 and VO2 between groups and investigated the DO2-VO2 association. Results: DO2 and VO2 were different between groups (P=0.009, P=0.036, respectively). In post hoc analysis, the low BP group had lower DO2 than the untreated AHT group (P=4.9⋅10-4), while both the low BP group and the treated AHT group had lower VO2 than the untreated AHT group (P=0.021, P=0.034, respectively). There was a significant DO2-VO2 correlation (R[obs]=0.65, b[obs]=0.51, P=2.4⋅10-12). After correcting for shared measurement error, the slope was no longer significant (b[cor]=0.19, P=0.29), while the correlation coefficient could not be calculated. Conclusions: DO2 and VO2 were altered in ophthalmologically healthy subjects with different BP status. Future studies could elucidate whether these changes can explain the increased risk of several ophthalmic pathologies in those subjects.


2012 ◽  
Vol 52 (4) ◽  
pp. 215 ◽  
Author(s):  
Karin Meyer ◽  
Bruce Tier

Estimates of variances due to differential expression of paternally and maternally derived genes can be obtained from animal model type analyses by fitting appropriate gametic effects. This is feasible for large-scale analyses, because the inverse of the gametic relationship matrix can be set up directly from a list of pedigrees. We present a series of analyses applying such a model to large sets of records for birth, weaning, yearling and final weights of Australian Angus and Hereford cattle. On one hand, results show that maternal genetic effects on these traits are largely confounded with maternal parent of origin effects, so that it is difficult to reliably separate the respective variance components. On the other hand, paternal parent of origin effects tend to act similarly to sire × herd effects so that estimates of their variance are inflated by any effects not modelled and contributing to such apparent interaction. Fitting an animal model with both parent of offspring effects, maternal genetic and permanent environmental effects as well as sire × herd and maternal grand-sire × herd of origin of dam interactions as additional random effects yielded estimates of the variance due to paternal parent of origin effects of 5–7% of the phenotypic variation for birth and weaning weights and of 0–1% for yearling and final weights. Corresponding estimates for maternal parent of origin effects were 0–11% for birth and weaning weights and 7–8% for yearling and final weights, while sire and maternal grand-sire interaction effects explained from 0 to 4% of the phenotypic variance.


Sign in / Sign up

Export Citation Format

Share Document