scholarly journals Heritability of Cardiothoracic Ratio and Aortic Arch Calcification in Twins

Medicina ◽  
2021 ◽  
Vol 57 (5) ◽  
pp. 421
Author(s):  
Zsofia Jokkel ◽  
Bianka Forgo ◽  
Christopher Hani-Gaius Ghattas ◽  
Marton Piroska ◽  
Helga Szabó ◽  
...  

Background and Objectives: Aortic arch calcification (AoAC) is associated with a variety of cardiovascular complications. The measurement and grading of AoAC using posteroanterior (PA) chest X-rays are well established. The cardiothoracic ratio (CTR) can be simultaneously measured with PA chest X-rays and used as an index of cardiomegaly. The genetic and environmental contributions to the degree of the AoAC and CTR are not well understood. The purpose of this study was to investigate the effect of genetics and environmental factors on the AoAC and CTR. Materials and Methods: A total of 684 twins from the South Korean twin registry (261 monozygotic, MZ and 81 dizygotic, DZ pairs; mean age 38.6 ± 7.9 years, male/female = 264/420) underwent PA chest X-rays. Cardiovascular risk factors and anthropometric data were also collected. The AoAC and CTR were measured and graded using a standardized method. A structural equation method was used to calculate the proportion of variance explained by genetic and environmental factors behind AoAC and CTR. Results: The within-pair differences were low regarding the grade of AoAC, with only a few twin pairs showing large intra-pair differences. We found that the thoracic width showed high heritability (0.67, 95% CI: 0.59–0.73, p = 1). Moderate heritability was detected regarding cardiac width (0.54, 95% CI: 0.45–0.62, p = 0.572) and CTR (0.54, 95% CI: 0.44–0.62, p = 0.701). Conclusions: The heritable component was significant regarding thoracic width, cardiac width, and the CTR.

2008 ◽  
Vol 11 (2) ◽  
pp. 121-131 ◽  
Author(s):  
Corrado Fagnani ◽  
Isabella Annesi-Maesano ◽  
Sonia Brescianini ◽  
Cristina D'Ippolito ◽  
Emanuela Medda ◽  
...  

AbstractA number of studies have provided evidence of a significant familial aggregation for both asthma and hay fever, and have reported a substantial comorbidity between the two conditions. However, far fewer, especially in Italy, have aimed at clarifying the origins of such comorbidity. The main aims of the present study were (a) to estimate heritability of asthma and hay fever, (b) to measure the association between asthma and hay fever at the individual level, and (c) to assess the extent to which genetic and environmental factors, shared by the two conditions, mediate this association. The twin method was used. The study sample was derived from the Italian Twin Registry, and included 392 twin pairs aged 8 to 17 years. Data collection was performed through parent self-administered questionnaire. Bivariate structural equation twin modeling was applied to asthma and hay fever. Genetic factors accounted for 92% and 78% of the variance in liability to asthma and hay fever, respectively, with the remaining contributions due to unique environmental influences. The within-individual association between asthma and hay fever was substantial. The genetic correlation between the two conditions was .58, whereas no evidence of overlapping unique environmental effects was found. In conclusion, this study showed a high heritability of asthma and hay fever in the Italian child and adolescent population. It also indicated that asthma and hay fever share, to a large extent, a common genetic background, and environmental factors are not relevant to explain the comorbidity.


2021 ◽  
Vol 11 (8) ◽  
pp. 788
Author(s):  
Tung-Ling Chung ◽  
Yi-Hsueh Liu ◽  
Jiun-Chi Huang ◽  
Pei-Yu Wu ◽  
Hung-Pin Tu ◽  
...  

Patients with end-stage renal disease have a high prevalence of cardiovascular disease. Chest radiography can be used to assess cardiothoracic ratio (CTR) and aortic arch calcification (AoAC). The aims of this longitudinal follow-up study were to investigate factors associated with changes in CTR and AoAC and understand whether these changes are associated with overall and cardiovascular mortality in hemodialysis (HD) patients. We enrolled 260 patients undergoing HD who had at least two available chest X-rays from 2008 to 2015. CTR and AoAC were assessed in each patient using measurements from baseline and annual chest X-rays. The CTR increased from 49.05% to 51.86% and the AoAC score increased from 3.84 to 9.73 over 7 years. The estimated slopes were 0.24 (p < 0.0001) for CTR and 0.08 (p = 0.0441) for AoAC. Increased AoAC, older age, female sex, coronary artery disease, and decreased albumin were associated with an increase in CTR, and older age, cerebrovascular disease, decreased albumin, increased Kt/V, and the use of antiplatelet agents were associated with an increase in AoAC. During follow-up, 136 of the 260 (52.3%) patients died, of whom 72 died due to cardiovascular causes. The change in CTR was greater in those who died (p = 0.0125) than in those who survived. The AoAC score was also higher in those who died than in those who survived, although there was no significant difference in the change in AoAC between the two groups (p = 0.8035). CTR and AoAC increased significantly over time in the HD patients in this longitudinal follow-up study, and the change in CTR was greater in those who died than in those who survived. Chest radiography is a simple and useful tool to assess the progression of CTR and AoAC as a prognostic marker.


2007 ◽  
Vol 37 (8) ◽  
pp. 1163-1172 ◽  
Author(s):  
AYMAN H. FANOUS ◽  
MICHAEL C. NEALE ◽  
STEVEN H. AGGEN ◽  
KENNETH S. KENDLER

ABSTRACTBackgroundThe relationship between personality and psychiatric illness is complex. It is not clear whether one directly causes the other.MethodIn a population-based sample of male twins (n=3030), we attempted to predict major depression (MD) from neuroticism (N) and extraversion (E) and vice versa, to evaluate the causal, scar, state, and prodromal hypotheses. In a longitudinal, structural equation twin model, we decomposed the covariation between N and MD into (a) genetic and environmental factors that are common to both traits, as well as specific to each one and (b) direct causal effects of N at time 1 on subsequent MD, as well as between MD and subsequent N.ResultsE was negatively correlated with lifetime and one-year prevalence of MD. N predicted the new onset of MD, and was predicted by both current and past MD. It did not predict the time to onset of MD. All of the covariation between N and MD was due to additive genetic and individual-specific environmental factors shared by both traits and a direct causal path between MD and N assessed later. No genetic factors were unique to either trait.ConclusionsIn men, N may be a vulnerability factor for MD but does not cause it directly. However, MD may have a direct causal effect on N. The genetic overlap between N and MD in men may be greater than in women.


2018 ◽  
Vol 2018 ◽  
pp. 1-5 ◽  
Author(s):  
Teija Raivisto ◽  
AnnaMaria Heikkinen ◽  
Leena Kovanen ◽  
Hellevi Ruokonen ◽  
Kaisa Kettunen ◽  
...  

Background. Dental caries is the most common infection in the world and is influenced by genetic and environmental factors. Environmental factors are largely known, but the role of genetic factors is quite unknown. The aim was to investigate the genetic background of caries in Finnish adolescents. Materials and Methods. This study was carried out at the Kotka Health Center in Eastern Finland. 94 participants aged 15–17 years gave approval for the saliva and DNA analyses. However, one was excluded in DNA analysis; thus, the overall number of participants in analysis was 93. Caries status was recorded clinically and from bite-wing X-rays to all 94 participants. Genomic DNA was extracted by genomic QIAamp® DNA Blood Mini Kit and genotyped for polymorphisms. The results were analyzed using additive and logistic regression models. Results. No significant associations between caries and the genes studied were found. However, SNPs in DDX39B and MPO showed association tendencies but were not statistically significant after false discovery rate (FDR) analysis. SNPs in VDR, LTA, and MMP3 were not statistically significant with initial caries lesions after FDR analysis. Conclusion. The present study could not demonstrate statistically significant associations between caries and the genes studied. Further studies with larger populations are needed.


2019 ◽  
Vol 22 (2) ◽  
pp. 95-98 ◽  
Author(s):  
Ally R. Avery ◽  
Glen E. Duncan

AbstractApproximately 12% of U.S. adults have type 2 diabetes (T2D). Diagnosed T2D is caused by a combination of genetic and environmental factors including age and lifestyle. In adults 45 years and older, the Discordant Twin (DISCOTWIN) consortium of twin registries from Europe and Australia showed a moderate-to-high contribution of genetic factors of T2D with a pooled heritability of 72%. The purpose of this study was to investigate the contributions of genetic and environmental factors of T2D in twins 45 years and older in a U.S. twin cohort (Washington State Twin Registry, WSTR) and compare the estimates to the DISCOTWIN consortium. We also compared these estimates with twins under the age of 45. Data were obtained from 2692 monozygotic (MZ) and same-sex dizygotic (DZ) twin pairs over 45 and 4217 twin pairs under 45 who responded to the question ‘Has a doctor ever diagnosed you with (type 2) diabetes?’ Twin similarity was analyzed using both tetrachoric correlations and structural equation modeling. Overall, 9.4% of MZ and 14.7% of DZ twins over the age of 45 were discordant for T2D in the WSTR, compared to 5.1% of MZ and 8% of DZ twins in the DISCOTWIN consortium. Unlike the DISCOTWIN consortium in which heritability was 72%, heritability was only 52% in the WSTR. In twins under the age of 45, heritability did not contribute to the variance in T2D. In a U.S. sample of adult twins, environmental factors appear to be increasingly important in the development of T2D.


Twin Research ◽  
2001 ◽  
Vol 4 (4) ◽  
pp. 266-274 ◽  
Author(s):  
Andreas Wienke ◽  
Niels V. Holm ◽  
Axel Skytthe ◽  
Anatoli I. Yashin

AbstractData of the Danish Twin Registry on monozygotic and dizygotic twins are used to analyse genetic and environmental influences on susceptibility to heart diseases for males and females, respectively. The sample includes 7955 like-sexed twin pairs born between 1870 and 1930. Follow-up was from 1 January 1943 to 31 December 1993 which results in truncation (twin pairs were included in the study if both individuals were still alive at the beginning of the follow-up) and censoring (nearly 40% of the study population was still alive at the end of the follow-up). We use the correlated gamma-frailty model for the genetic analysis of frailty to account for this censoring and truncation. During the follow-up 9370 deaths occurred, 3393 deaths were due to heart diseases in general, including 2476 deaths due to coronary heart disease (CHD). Proportions of variance of frailty attributable to genetic and environmental factors were analyzed using the structural equation model approach. Different standard biometric models are fitted to the data to evaluate the magnitude and nature of genetic and environmental factors on mortality. Using the best fitting model heritability of frailty (liability to death) was found to be 0.55 (0.07) and 0.53 (0.11) with respect to heart diseases and CHD, respectively, for males and 0.52 (0.10) and 0.58 (0.14) for females in a parametric analysis. A semi-parametric analysis shows very similar results. These analyses may indicate the existence of a strong genetic influence on individual frailty associated with mortality caused by heart diseases and CHD in both, males and females. The nature of genetic influences on frailty with respect to heart diseases and CHD is probably additive. No evidence for dominance and shared environment was found.


2005 ◽  
Vol 8 (1) ◽  
pp. 53-59 ◽  
Author(s):  
Andreas Wienke ◽  
Anne M. Herskind ◽  
Kaare Christensen ◽  
Axel Skytthe ◽  
Anatoli I. Yashin

AbstractCause-specific mortality data on Danish monozygotic and dizygotic twins are used to analyze heritability estimates of susceptibility to coronary heart disease (CHD) after controlling for smoking and Body Mass Index (BMI). The sample includes 1209 like-sexed twin pairs born between 1890 and 1920, where both individuals were still alive in 1966. The participants completed a questionnaire in 1966 which included questions on smoking, height and weight. The analysis was conducted with both sexes pooled due to the relatively small number of twin pairs. Follow-up was conducted from January 1, 1966 to December 31, 1993. The correlated gammafrailty model with observed covariates was used for the genetic analysis of frailty to account for censoring and truncation in the lifetime data. During the follow-up, 1437 deaths occurred, including 435 deaths due to CHD. Proportions of variance of frailty attributable to genetic and environmental factors were analyzed using the structural equation model approach. Different standard biometric models are fitted to the data to evaluate the magnitude and nature of genetic and environmental factors on mortality. Using the best-fitting model without covariates, heritability of frailty to CHD was found to be 0.45 (0.11). This result changes only slightly to 0.55 (0.13) in a DE model after controlling for smoking and BMI. This analysis underlines the existence of a substantial genetic influence on individual frailty associated with mortality caused by CHD.


2017 ◽  
Vol 20 (1) ◽  
pp. 28-35 ◽  
Author(s):  
Chunxiao Liao ◽  
Wenjing Gao ◽  
Weihua Cao ◽  
Jun Lv ◽  
Canqing Yu ◽  
...  

Obesity is associated with blood pressure (BP), but the associations between different obesity indicators and BP have not reached agreement. Besides, both obesity and BP are influenced by genetic and environmental factors. Whether they share the same genetic or environmental etiology has not been fully understood. We therefore analyzed the relationship between different obesity indicators and BP components as well as the genetic and environmental contributions to these relationships in a Chinese adult twin sample. Twins aged 18–79 years (n = 941) were included in this study. Body mass index (BMI) was used as the index of general obesity, whereas waist circumference (WC), waist-to-height ratio (WHtR), and waist-to-hip ratio (WHR) were used as the indicators of central obesity. BP components included systolic blood pressure (SBP) and diastolic blood pressure (DBP). Linear regression models and bivariate structural equation models were used to examine the relation of various obesity indicators with BP components, and genetic or environmental influences on these associations, respectively. A strong association of BP components with BMI—and a somewhat weaker association with WC, WHtR, and WHR—was found in both sexes, independent of familial factors. Of these phenotypic correlations between obesity indicators and BP components, 60–76% were attributed to genetic factors, whereas 24–40% were attributed to unique environmental factors. General obesity was most strongly associated with high BP in Chinese adult twins. There were common genetic backgrounds for obesity and BP, and unique environmental factors also played a role.


2020 ◽  
Vol 23 (4) ◽  
pp. 195-203
Author(s):  
Jacqueline M. Vink ◽  
Kirsten J. M. van Hooijdonk ◽  
Gonneke Willemsen ◽  
Edith J. M. Feskens ◽  
Dorret I. Boomsma

AbstractOur current society is characterized by an increased availability of industrially processed foods with high salt, fat and sugar content. How is it that some people prefer these unhealthy foods while others prefer more healthy foods? It is suggested that both genetic and environmental factors play a role. The aim of this study was to (1) identify food preference clusters in the largest twin-family study into food preference to date and (2) determine the relative contribution of genetic and environmental factors to individual differences in food preference in the Netherlands. Principal component analysis was performed to identify the preference clusters by using data on food liking/disliking from 16,541 adult multiples and their family members. To estimate the heritability of food preference, the data of 7833 twins were used in structural equation models. We identified seven food preference clusters (Meat, Fish, Fruits, Vegetables, Savory snacks, Sweet snacks and Spices) and one cluster with Drinks. Broad-sense heritability (additive [A] + dominant [D] genetic factors) for these clusters varied between .36 and .60. Dominant genetic effects were found for the clusters Fruit, Fish (males only) and Spices. Quantitative sex differences were found for Meat, Fish and Savory snacks and Drinks. To conclude, our study convincingly showed that genetic factors play a significant role in food preference. A next important step is to identify these genes because genetic vulnerability for food preference is expected to be linked to actual food consumption and different diet-related disorders.


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