scholarly journals Are Twins and Singletons Comparable? A Study of Disease-related and Lifestyle Characteristics in Adult Women

Twin Research ◽  
2001 ◽  
Vol 4 (6) ◽  
pp. 464-477 ◽  
Author(s):  
Toby Andrew ◽  
Deborah J. Hart ◽  
Harold Snieder ◽  
Marlies de Lange ◽  
Tim D. Spector ◽  
...  
Keyword(s):  
Complex Disease ◽  
Menopausal Status ◽  
Twin Studies ◽  
Tobacco Consumption ◽  
Population Based ◽  
Adult Women ◽  
Mineral Density ◽  
Twin Design ◽  
Hypertensive Drug ◽  
The Uk

AbstractThe classic twin study is sometimes described as “the perfect natural experiment” for the investigation of the aetiology of complex disease, but assumptions of the twin design need to be empirically tested if their results are to be considered unbiased and representative of singleton populations. In this study comparisons of disease and prevalence of lifestyle characteristics have been made between twin participants in the St Thomas' Hospital UK adult twin registry, the largest twin volunteer register in the UK for the study of diseases of ageing, and a parallel population-based study of singleton women. The only differences found were for weight, where monozygotic (MZ) twins were lighter and had a smaller variance than dizygotic (DZ) twins and singletons. For the other variables studied, volunteer twins were not found to differ from age-matched singleton women in distribution or prevalence of: bone mineral density, osteoarthritis, blood pressure, hypertensive drug use, height, history of hysterectomy and ovariectomy, menopausal status and current alcohol and overall tobacco consumption. We conclude that the results of twin studies can be generalised to singleton populations for these measures and disease outcomes.

Association of PLOD1 polymorphisms with bone mineral density in a population-based study of women from the UK

2006 ◽  
Vol 17 (7) ◽  
pp. 1078-1085 ◽  
Author(s):  
P. N. Tasker ◽  
H. MacDonald ◽  
W. D. Fraser ◽  
D. M. Reid ◽  
S. H. Ralston ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Population Based ◽  
Mineral Density ◽  
Population Based Study ◽  
The Uk

scholarly journals A novel variant in GLIS3 is associated with osteoarthritis

2018 ◽  
Vol 77 (4) ◽  
pp. 620-623 ◽  
Author(s):  
Elisabetta Casalone ◽  
Ioanna Tachmazidou ◽  
Eleni Zengini ◽  
Konstantinos Hatzikotoulas ◽  
Sophie Hackinger ◽  
...  
Keyword(s):  
Complex Disease ◽  
Genome Wide Association Study ◽  
Total Joint Replacement ◽  
Population Based ◽  
Uk Biobank ◽  
Proteomics Data ◽  
Glucose Levels ◽  
Genome Wide ◽  
A Genome ◽  
The Uk

ObjectivesOsteoarthritis (OA) is a complex disease, but its genetic aetiology remains poorly characterised. To identify novel susceptibility loci for OA, we carried out a genome-wide association study (GWAS) in individuals from the largest UK-based OA collections to date.MethodsWe carried out a discovery GWAS in 5414 OA individuals with knee and/or hip total joint replacement (TJR) and 9939 population-based controls. We followed-up prioritised variants in OA subjects from the interim release of the UK Biobank resource (up to 12 658 cases and 50 898 controls) and our lead finding in operated OA subjects from the full release of UK Biobank (17 894 cases and 89 470 controls). We investigated its functional implications in methylation, gene expression and proteomics data in primary chondrocytes from 12 pairs of intact and degraded cartilage samples from patients undergoing TJR.ResultsWe detect a genome-wide significant association at rs10116772 with TJR (P=3.7×10−8; for allele A: OR (95% CI) 0.97 (0.96 to 0.98)), an intronic variant in GLIS3, which is expressed in cartilage. Variants in strong correlation with rs10116772 have been associated with elevated plasma glucose levels and diabetes.ConclusionsWe identify a novel susceptibility locus for OA that has been previously implicated in diabetes and glycaemic traits.

scholarly journals Occupational exposures and mammographic density in Spanish women

2017 ◽  
Vol 75 (2) ◽  
pp. 124-131 ◽  
Author(s):  
Virginia Lope ◽  
Javier García-Pérez ◽  
Beatriz Pérez-Gómez ◽  
Ana María Pedraza-Flechas ◽  
Juan Alguacil ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Mammographic Density ◽  
Menopausal Status ◽  
Occupational Exposures ◽  
Population Based ◽  
Ionising Radiation ◽  
Adult Women ◽  
Linear Regression Models ◽  
Cross Sectional ◽  
Hydrocarbon Solvents

ObjectivesThe association between occupational exposures and mammographic density (MD), a marker of breast cancer risk, has not been previously explored. Our objective was to investigate the influence of occupational exposure to chemical, physical and microbiological agents on MD in adult women.MethodsThis is a population-based cross-sectional study based on 1476 female workers aged 45–65 years from seven Spanish breast cancer screening programmes. Occupational history was surveyed by trained staff. Exposure to occupational agents was assessed using the Spanish job-exposure matrix MatEmESp. Percentage of MD was measured by two radiologists using a semiautomatic computer tool. The association was estimated using mixed log-linear regression models adjusting for age, education, body mass index, menopausal status, parity, smoking, alcohol intake, type of mammography, family history of breast cancer and hormonal therapy use, and including screening centre and professional reader as random effects terms.ResultsAlthough no association was found with most of the agents, women occupationally exposed to perchloroethylene (eβ=1.51; 95% CI 1.04 to 2.19), ionising radiation (eβ=1.23; 95% CI 0.99 to 1.52) and mould spores (eβ=1.44; 95% CI 1.01 to 2.04) tended to have higher MD. The percentage of density increased 12% for every 5 years exposure to perchloroethylene or mould spores, 11% for every 5 years exposure to aliphatic/alicyclic hydrocarbon solvents and 3% for each 5 years exposure to ionising radiation.ConclusionsExposure to perchloroethylene, ionising radiation, mould spores or aliphatic/alicyclic hydrocarbon solvents in occupational settings could be associated with higher MD. Further studies are needed to clarify the accuracy and the reasons for these findings.

scholarly journals Estrogen and COVID-19 symptoms: Associations in women from the COVID Symptom Study

PLoS ONE ◽  
2021 ◽  
Vol 16 (9) ◽  
pp. e0257051 ◽  
Author(s):  
Ricardo Costeira ◽  
Karla A. Lee ◽  
Benjamin Murray ◽  
Colette Christiansen ◽  
Juan Castillo-Fernandez ◽  
...  
Keyword(s):  
Hormone Replacement ◽  
Menopausal Status ◽  
Oral Contraceptive Pill ◽  
Positive Association ◽  
Population Based ◽  
Duration Of Treatment ◽  
Estrogen Exposure ◽  
Menopausal Women ◽  
Hormonal Therapies ◽  
The Uk

It has been widely observed that adult men of all ages are at higher risk of developing serious complications from COVID-19 when compared with women. This study aimed to investigate the association of COVID-19 positivity and severity with estrogen exposure in women, in a population based matched cohort study of female users of the COVID Symptom Study application in the UK. Analyses included 152,637 women for menopausal status, 295,689 women for exogenous estrogen intake in the form of the combined oral contraceptive pill (COCP), and 151,193 menopausal women for hormone replacement therapy (HRT). Data were collected using the COVID Symptom Study in May-June 2020. Analyses investigated associations between predicted or tested COVID-19 status and menopausal status, COCP use, and HRT use, adjusting for age, smoking and BMI, with follow-up age sensitivity analysis, and validation in a subset of participants from the TwinsUK cohort. Menopausal women had higher rates of predicted COVID-19 (P = 0.003). COCP-users had lower rates of predicted COVID-19 (P = 8.03E-05), with reduction in hospital attendance (P = 0.023). Menopausal women using HRT or hormonal therapies did not exhibit consistent associations, including increased rates of predicted COVID-19 (P = 2.22E-05) for HRT users alone. The findings support a protective effect of estrogen exposure on COVID-19, based on positive association between predicted COVID-19 with menopausal status, and negative association with COCP use. HRT use was positively associated with COVID-19, but the results should be considered with caution due to lack of data on HRT type, route of administration, duration of treatment, and potential unaccounted for confounders and comorbidities.

scholarly journals Pleiotropic effects of heterozygosity for the SERPINA1 Z allele in the UK Biobank

2020 ◽  
Author(s):  
Katherine A Fawcett ◽  
Kijoung Song ◽  
Guoqing Qian ◽  
Aliki-Eleni Farmaki ◽  
Richard Packer ◽  
...  
Keyword(s):  
Lung Function ◽  
Rare Condition ◽  
Population Based ◽  
Uk Biobank ◽  
Mineral Density ◽  
Increased Risk ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
The Uk ◽  
Reduced Risk

Homozygosity for the SERPINA1 Z allele causes alpha-1 antitrypsin deficiency, a rare condition that can cause lung and liver disease. However, the effects of Z allele heterozygosity on non-respiratory phenotypes, and on lung function in the general population, remain unclear. We conducted the largest population-based study to date to determine Z allele effects on >2,400 phenotypes using the UK Biobank study (N>303,353). We detected strong associations between heterozygosity and non-respiratory phenotypes including increased height, increased risk of gall bladder disease, reduced risk of heart disease and lower blood pressure, reduced risk of osteoarthritis and reduced bone mineral density, increased risk of headache and enlarged prostate, as well as with blood biomarkers of liver function. Heterozygosity was associated with higher lung function in non-smokers, but smoking appears to abolish this protective effect. Individuals heterozygous for the Z allele may therefore have altered risk of smoking-induced lung disease and other, non-respiratory conditions.

scholarly journals Use of age-dependent FRAX-based intervention thresholds for Singapore

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
John A. Kanis ◽  
Manju Chandran ◽  
Siok Bee Chionh ◽  
Ganga Ganeson ◽  
Nicholas C Harvey ◽  
...  
Keyword(s):  
Fracture Risk ◽  
Population Based ◽  
Health Study ◽  
Specific Intervention ◽  
Mineral Density ◽  
Treatment Pathways ◽  
Intervention Thresholds ◽  
Age Dependent ◽  
Singapore Chinese ◽  
The Uk

Abstract Summary Assessment and treatment pathways based on age-specific intervention thresholds in Singapore using FRAX paths can be used to identify patients at high risk of fracture and avoid unnecessary treatment in those at low risk. Purpose Intervention thresholds for the treatment of osteoporosis have been based historically on the measurement of bone mineral density. The development of FRAX® has permitted a more accurate assessment of fracture risk. The aim of the present study was to explore treatment paths and characteristics of women selected for treatment in Singapore based on FRAX. Methods The approach to the setting of intervention and assessment thresholds used the methodology adopted by the National Osteoporosis Guideline Group for FRAX-based guidelines in the UK but based on the epidemiology of fracture and death in Singapore. The methodology was applied to women age 50 years or more drawn from the population-based Singapore Chinese Health Study (SCHS) cohort. Missing data for the calculation of FRAX was simulated using data from Chinese cohorts from Hong Kong. Results Intervention thresholds expressed as a 10-year probability of a major osteoporotic fracture ranged from 2.9% at the age of 50 years increasing to 32% at the age of 90 years. A total of 1927 of 29,323 women (7%) had a prior fragility fracture and would be eligible for treatment for this reason. An additional 3019 women (10.3%) would be eligible for treatment on the basis of age-dependent thresholds. The mean BMD T-score of women so selected was −2.94. Conclusion Probability-based assessment of fracture risk using age-specific intervention thresholds was developed for Singapore to help guide decisions about treatment.

Ethnic Differences in Self-Poisoning Across South London

Crisis ◽  
2014 ◽  
Vol 35 (4) ◽  
pp. 268-272
Author(s):  
Sean Cross ◽  
Dinesh Bhugra ◽  
Paul I. Dargan ◽  
David M. Wood ◽  
Shaun L. Greene ◽  
...  
Keyword(s):  
Black Women ◽  
Data Collection ◽  
White Women ◽  
Population Based ◽  
Care Services ◽  
Self Harm ◽  
Managing Risk ◽  
The Uk ◽  
Incident Cases ◽  
Minority Ethnic

Background: Self-poisoning (overdose) is the commonest form of self-harm cases presenting to acute secondary care services in the UK, where there has been limited investigation of self-harm in black and minority ethnic communities. London has the UK’s most ethnically diverse areas but presents challenges in resident-based data collection due to the large number of hospitals. Aims: To investigate the rates and characteristics of self-poisoning presentations in two central London boroughs. Method: All incident cases of self-poisoning presentations of residents of Lambeth and Southwark were identified over a 12-month period through comprehensive acute and mental health trust data collection systems at multiple hospitals. Analysis was done using STATA 12.1. Results: A rate of 121.4/100,000 was recorded across a population of more than half a million residents. Women exceeded men in all measured ethnic groups. Black women presented 1.5 times more than white women. Gender ratios within ethnicities were marked. Among those aged younger than 24 years, black women were almost 7 times more likely to present than black men were. Conclusion: Self-poisoning is the commonest form of self-harm presentation to UK hospitals but population-based rates are rare. These results have implications for formulating and managing risk in clinical services for both minority ethnic women and men.

Association between reproductive factors and postmenopausal osteoporosis

2011 ◽  
Vol 20 (03) ◽  
pp. 248-251
Author(s):  
H. R. Meybodi ◽  
N. Khalili ◽  
P. Khashayar ◽  
R. Heshmat ◽  
A. Hossein-nezhad ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Reproductive Factors ◽  
Population Based ◽  
Age At Menarche ◽  
Mineral Density ◽  
Cross Sectional ◽  
Number Of Children ◽  
Menstrual History ◽  
Duration Of Breastfeeding

SummaryThe present cross-sectional research was designed to study possible correlations between clinical reproductive factors and bone mineral density (BMD) values.Using the data gathered by the population-based Iranian Multicenter Osteoporosis Study (IMOS), we investigated the correlation found between reproductive factors and osteoporosis. Subjects were recruited from five major cities of Iran. Bone mineral density was measured using Dual-Energy X-ray Absorptiometry and the results were analyzed against the age at menarche and at menopause, number of pregnancies, children and abortions, and the history (and duration) of breastfeeding.Data was available for 2528 women. Gravidity and number of children were reversely correlated with BMD. Younger age at menarche was associated with higher BMD values, whereas there was no significant correlation between age at menopause and menstrual history and BMD.Our study suggests that clinical reproductive factors, particularly number of children and breastfeeding, could be incorporated as predictors of BMD levels in women. Given the controversial results obtained in different studies, longitudinal studies should be carried out to enlighten the importance of these factors and the rationale of their use to predict BMD values in different settings.

Contrasting Broad- and Clinically- defined Polygenic Indicators of Depression and Depression-related Phenotypes in Adults and Children

2020 ◽  
Author(s):  
John E. McGeary ◽  
Chelsie Benca-Bachman ◽  
Victoria Risner ◽  
Christopher G Beevers ◽  
Brandon Gibb ◽  
...  
Keyword(s):  
Suicidal Ideation ◽  
Cognitive Reappraisal ◽  
Twin Studies ◽  
European Ancestry ◽  
Summary Statistics ◽  
Depression Severity ◽  
Uk Biobank ◽  
Polygenic Scores ◽  
Adults And Children ◽  
The Uk

Twin studies indicate that 30-40% of the disease liability for depression can be attributed to genetic differences. Here, we assess the explanatory ability of polygenic scores (PGS) based on broad- (PGSBD) and clinical- (PGSMDD) depression summary statistics from the UK Biobank using independent cohorts of adults (N=210; 100% European Ancestry) and children (N=728; 70% European Ancestry) who have been extensively phenotyped for depression and related neurocognitive phenotypes. PGS associations with depression severity and diagnosis were generally modest, and larger in adults than children. Polygenic prediction of depression-related phenotypes was mixed and varied by PGS. Higher PGSBD, in adults, was associated with a higher likelihood of having suicidal ideation, increased brooding and anhedonia, and lower levels of cognitive reappraisal; PGSMDD was positively associated with brooding and negatively related to cognitive reappraisal. Overall, PGS based on both broad and clinical depression phenotypes have modest utility in adult and child samples of depression.

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