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1.
J Occup Environ Hyg ; 18(10-11): 510-521, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34478353

RESUMEN

Studies of firefighter exposure to combustion products have focused predominantly on real or simulated residential structure fires, with few investigations considering industrial fire scenarios. This study measured the atmospheric concentrations of a variety of volatile organic compounds (VOCs), acid gases, and polycyclic aromatic hydrocarbons (PAHs) produced during fires in simulated industrial premises, as well as the deposition of PAHs onto the structural firefighting ensembles worn by the firefighters involved in extinguishment activities. Ingress of these combustion products into the structural firefighting ensembles during firefighting was also measured. Benzene concentrations of up to 23 mg/m3 and total PAH concentrations ranging from 1.7 to 8.6 mg/m3 were observed in personal air samples collected outside the structural firefighting ensembles, as well as a variety of acid gases including hydrogen chloride and hydrogen cyanide. Most combustion products detected outside the structural firefighting ensembles were also detected inside the ensembles, although often at much lower concentrations. The degree of protection observed was not uniform across all the combustion products investigated, with lower levels of protection found for gaseous combustion products such as benzene, xylene, hydrogen cyanide, and hydrochloric acid as compared with PAHs. Deposition of a variety of PAH compounds was observed on the outer surface of the structural firefighting ensembles, with total PAH concentrations ranging from 161 to 347 ng/cm2. While similar combustion products are involved in firefighter exposures during residential and industrial fires, deposition rates of PAHs, may be substantially higher during industrial firefighting. This research provides evidence supporting fireground decontamination measures for management of contamination of structural firefighting ensembles and equipment worn or carried by firefighters during firefighting activities. Further research is required to investigate the potential for dermal deposition of PAHs during actual industrial fire responses, and characterize which stages of fire and firefighting operations contribute the most to firefighters' exposure to particular contaminants.


Asunto(s)
Contaminantes Ocupacionales del Aire , Bomberos , Incendios , Exposición Profesional , Hidrocarburos Policíclicos Aromáticos , Contaminantes Ocupacionales del Aire/análisis , Humanos , Exposición Profesional/análisis , Hidrocarburos Policíclicos Aromáticos/análisis
2.
Twin Res Hum Genet ; 23(6): 345-357, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-33509317

RESUMEN

The '16Up' study conducted at the QIMR Berghofer Medical Research Institute from January 2014 to December 2018 aimed to examine the physical and mental health of young Australian twins aged 16-18 years (N = 876; 371 twin pairs and 18 triplet sets). Measurements included online questionnaires covering physical and mental health as well as information and communication technology (ICT) use, actigraphy, sleep diaries and hair samples to determine cortisol concentrations. Study participants generally rated themselves as being in good physical (79%) and mental (73%) health and reported lower rates of psychological distress and exposure to alcohol, tobacco products or other substances than previously reported for this age group in the Australian population. Daily or near-daily online activity was almost universal among study participants, with no differences noted between males and females in terms of frequency or duration of internet access. Patterns of ICT use in this sample indicated that the respondents were more likely to use online information sources for researching physical health issues than for mental health or substance use issues, and that they generally reported partial levels of satisfaction with the mental health information they found online. This suggests that internet-based mental health resources can be readily accessed by adolescent Australians, and their computer literacy augurs well for future access to online health resources. In combination with other data collected as part of the ongoing Brisbane Longitudinal Twin Study, the 16Up project provides a valuable resource for the longitudinal investigation of genetic and environmental contributions to phenotypic variation in a variety of human traits.


Asunto(s)
Comunicación , Estado de Salud , Salud Mental , Gemelos , Adolescente , Australia , Alfabetización Digital , Femenino , Humanos , Internet , Estudios Longitudinales , Masculino , Encuestas y Cuestionarios , Tecnología
3.
J Occup Environ Hyg ; 16(7): 432-439, 2019 07.
Artículo en Inglés | MEDLINE | ID: mdl-31021707

RESUMEN

Firefighters are exposed to a variety of combustion products during operational fires but also during live-fire training. As part of an on-going project investigating firefighter operational and training environments, this study measured the atmospheric concentrations of volatile organic compounds and acid gases outside and inside the structural firefighting ensembles worn by instructors during compartment fire behavior training using particleboard as a fuel. Atmospheric concentrations of benzene, formaldehyde, and hydrogen cyanide within the firefighting environment were observed to exceed Australian workplace exposure standards; although, the use of self-contained breathing apparatus throughout the training meant that atmospheric concentrations measured were not representative of firefighter inhalation exposures. Concentrations of air contaminants inside the structural firefighting ensembles during compartment fire behavior training were substantially lower than outside the ensembles, and much lower than those documented as potentially causing acute toxic effects in humans by dermal absorption from vapor. Although this study is focused on the generation of air contaminants in compartment fires, dermal absorption in these types of training environments may still constitute a potential route of low-level exposure to some combustion products.


Asunto(s)
Contaminantes Ocupacionales del Aire/análisis , Bomberos/educación , Exposición Profesional/análisis , Equipo de Protección Personal , Benceno/análisis , Materiales de Construcción , Formaldehído/análisis , Humanos , Cianuro de Hidrógeno/análisis , Queensland , Compuestos Orgánicos Volátiles/análisis
4.
Aust N Z J Psychiatry ; 51(6): 583-594, 2017 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-28378620

RESUMEN

OBJECTIVES: Anorexia nervosa is a severe psychiatric disorder with high mortality rates. While its aetiology is poorly understood, there is evidence of a significant genetic component. The Anorexia Nervosa Genetics Initiative is an international collaboration which aims to understand the genetic basis of the disorder. This paper describes the recruitment and characteristics of the Australasian Anorexia Nervosa Genetics Initiative sample, the largest sample of individuals with anorexia nervosa ever assembled across Australia and New Zealand. METHODS: Participants completed an online questionnaire based on the Structured Clinical Interview Diagnostic and Statistical Manual of Mental Disorders (4th ed.; DSM-IV) eating disorders section. Participants who met specified case criteria for lifetime anorexia nervosa were requested to provide a DNA sample for genetic analysis. RESULTS: Overall, the study recruited 3414 Australians and 543 New Zealanders meeting the lifetime anorexia nervosa case criteria by using a variety of conventional and social media recruitment methods. At the time of questionnaire completion, 28% had a body mass index ⩽ 18.5 kg/m2. Fasting and exercise were the most commonly employed methods of weight control, and were associated with the youngest reported ages of onset. At the time of the study, 32% of participants meeting lifetime anorexia nervosa case criteria were under the care of a medical practitioner; those with current body mass index < 18.5 kg/m2 were more likely to be currently receiving medical care (56%) than those with current body mass index ⩾ 18.5 kg/m2 (23%). Professional treatment for eating disorders was most likely to have been received from general practitioners (45% of study participants), dietitians (42%) and outpatient programmes (42%). CONCLUSIONS: This study was effective in assembling the largest community sample of people with lifetime anorexia nervosa in Australia and New Zealand to date. The proportion of people with anorexia nervosa currently receiving medical care, and the most common sources of treatment accessed, indicates the importance of training for general practitioners and dietitians in treating anorexia nervosa.


Asunto(s)
Anorexia Nerviosa/genética , Selección de Paciente , Adolescente , Adulto , Australia , Índice de Masa Corporal , Femenino , Estudio de Asociación del Genoma Completo , Humanos , Cooperación Internacional , Masculino , Nueva Zelanda , Adulto Joven
5.
J Occup Environ Hyg ; 12(6): 376-83, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25626009

RESUMEN

Firefighters may be exposed to toxic combustion products not only during fire fighting operations and training, but also afterwards as a result of contact with contaminated structural fire fighting ensembles. This study characterized the deposition of polycyclic aromatic hydrocarbons (PAHs) onto structural fire fighting ensembles and off-gassing of combustion products from ensembles after multiple exposures to hostile structural attack fire environments. A variety of PAHs were deposited onto the outer layer of structural fire fighting ensembles, with no variation in deposition flux between new ensembles and already contaminated ensembles. Contaminants released from ensembles after use included volatile organic compounds, carbonyl compounds, low molecular weight PAHs, and hydrogen cyanide. Air samples collected in a similar manner after laundering of ensembles according to manufacturer specifications indicated that laundering returns off-gassing concentrations of most of the investigated compounds to pre-exposure levels. These findings suggest that contamination of firefighter protective clothing increases with use, and that storage of unlaundered structural fire fighting ensembles in small, unventilated spaces immediately after use may create a source of future exposure to toxic combustion products for fire fighting personnel.


Asunto(s)
Bomberos , Incendios , Exposición por Inhalación/análisis , Exposición Profesional/análisis , Ropa de Protección , Compuestos Orgánicos Volátiles/análisis , Contaminantes Ocupacionales del Aire/análisis , Gases , Humanos , Cianuro de Hidrógeno/análisis , Hidrocarburos Policíclicos Aromáticos/análisis
6.
J Occup Environ Hyg ; 12(4): 227-34, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25679824

RESUMEN

Cumulative exposures of firefighting instructors to toxic contaminants generated from live-fire training potentially far exceed firefighter exposures arising from operational fires. This study measured the atmospheric concentrations of polycyclic aromatic hydrocarbons (PAHs) outside and inside the structural firefighting ensembles worn by instructors during five live fire training evolutions. In addition, the contamination of ensembles by deposition of PAHs was characterized. Concentrations of polycyclic aromatic hydrocarbons outside the instructors' structural firefighting ensembles during the training evolutions ranged from 430 µg/m(3) to 2700 µg/m(3), and inside the structural firefighting ensembles from 32 µg/m(3) to 355 µg/m(3). Naphthalene, phenanthrene and acenaphthylene dominated the PAHs generated in the live fire evolutions, but benzo[a]pyrene was the greatest contributor to the toxicity of the PAH mixture both inside and outside the structural firefighting ensembles. Deposition of PAHs onto the structural firefighting ensembles was measured at between 69 and 290 ng/cm(2), with phenanthrene, fluoranthene, pyrene, and benzo[a]anthracene detected on all samples. These findings suggest that firefighting instructor exposures to PAHs during a single live-fire training evolution are comparable with exposures occurring in industrial settings over a full shift. Further research is required to investigate the importance of various potential routes of exposure to PAHs as a result of ingress and deposition of PAHs in/on structural firefighting ensembles.


Asunto(s)
Contaminantes Ocupacionales del Aire/análisis , Bomberos , Incendios , Exposición Profesional/estadística & datos numéricos , Hidrocarburos Policíclicos Aromáticos/análisis , Contaminantes Ocupacionales del Aire/toxicidad , Contaminación del Aire Interior/análisis , Contaminación del Aire Interior/estadística & datos numéricos , Australia , Monitoreo del Ambiente , Humanos , Exposición Profesional/análisis , Hidrocarburos Policíclicos Aromáticos/toxicidad , Ropa de Protección
7.
Int J Audiol ; 51(4): 294-8, 2012 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-22149463

RESUMEN

OBJECTIVE: To investigate the relationship between self-reported and audiometrically-measured hearing loss in a sample of Australian Defence Force personnel. DESIGN: Responses to a question regarding hearing problems were compared with contemporaneous audiometric data. STUDY SAMPLE: 3335 members of the Australian Defence Force for whom anonymised medical records were available. RESULTS: The sensitivity of self-report data to identify higher-frequency hearing loss was lower than sensitivity at other frequencies, and positive predictive values were moderate to poor at all frequencies. Performance characteristics of self-report compared with audiometric data also varied with age, sex, and rank. CONCLUSIONS: While self-report hearing loss data have good performance characteristics for estimating prevalence of hearing loss as defined by audiometric criteria, this study indicates that the usefulness of self-report data in identifying individuals with hearing loss may be limited in this population.


Asunto(s)
Audiometría , Pérdida Auditiva/diagnóstico , Tamizaje Masivo/métodos , Personal Militar , Autoinforme , Estimulación Acústica , Adulto , Umbral Auditivo , Australia/epidemiología , Femenino , Pérdida Auditiva/epidemiología , Pérdida Auditiva/fisiopatología , Pérdida Auditiva/psicología , Humanos , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Prevalencia , Sensibilidad y Especificidad
8.
Mil Med ; 176(4): 461-7, 2011 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-21539171

RESUMEN

The objective of this study was to investigate the effect of chemical and environmental exposures during deployment on tinnitus among Australian Defence Force personnel previously deployed to Bougainville and East Timor. Participants were asked to self-report recent occurrence and severity of "ringing in the ears," and identify any chemical and environmental exposures during their deployment. Self-reported exposure to loud noises, heavy metals, intense smoke, engine exhaust, solvents and degreasing agents, and chemical spills increased the risk of self-assessed moderate or severe tinnitus. Daily exposure to 4 or more ototoxic factors was associated with 2- to 4-fold increase in the risk. In addition to loud noises, chemical exposures may also play a role in the development of tinnitus among Australian Defence Force personnel serving overseas.


Asunto(s)
Personal Militar/estadística & datos numéricos , Ruido en el Ambiente de Trabajo/efectos adversos , Exposición Profesional/efectos adversos , Acúfeno/epidemiología , Adulto , Australia/epidemiología , Liberación de Peligros Químicos , Femenino , Humanos , Masculino , Metales Pesados/efectos adversos , Plaguicidas/efectos adversos , Prevalencia , Autoinforme , Humo/efectos adversos , Fumar/efectos adversos , Solventes/efectos adversos , Acúfeno/etiología , Emisiones de Vehículos , Adulto Joven
9.
BMJ Open ; 10(5): e032580, 2020 05 26.
Artículo en Inglés | MEDLINE | ID: mdl-32461290

RESUMEN

PURPOSE: Depression is the most common psychiatric disorder and the largest contributor to global disability. The Australian Genetics of Depression study was established to recruit a large cohort of individuals who have been diagnosed with depression at some point in their lifetime. The purpose of establishing this cohort is to investigate genetic and environmental risk factors for depression and response to commonly prescribed antidepressants. PARTICIPANTS: A total of 20 689 participants were recruited through the Australian Department of Human Services and a media campaign, 75% of whom were female. The average age of participants was 43 years±15 years. Participants completed an online questionnaire that consisted of a compulsory module that assessed self-reported psychiatric history, clinical depression using the Composite Interview Diagnostic Interview Short Form and experiences of using commonly prescribed antidepressants. Further voluntary modules assessed a wide range of traits of relevance to psychopathology. Participants who reported they were willing to provide a DNA sample (75%) were sent a saliva kit in the mail. FINDINGS TO DATE: 95% of participants reported being given a diagnosis of depression by a medical practitioner and 88% met the criteria for a lifetime depressive episode. 68% of the sample report having been diagnosed with another psychiatric disorder in addition to depression. In line with findings from clinical trials, only 33% of the sample report responding well to the first antidepressant they were prescribed. FUTURE PLANS: A number of analyses to investigate the genetic architecture of depression and common comorbidities will be conducted. The cohort will contribute to the global effort to identify genetic variants that increase risk to depression. Furthermore, a thorough investigation of genetic and psychosocial predictors of antidepressant response and side effects is planned.


Asunto(s)
Depresión , Trastorno Depresivo Mayor , Adulto , Antidepresivos/uso terapéutico , Australia/epidemiología , Depresión/tratamiento farmacológico , Depresión/epidemiología , Depresión/genética , Trastorno Depresivo Mayor/tratamiento farmacológico , Femenino , Humanos , Masculino , Encuestas y Cuestionarios
10.
BMJ Open ; 8(3): e018959, 2018 03 17.
Artículo en Inglés | MEDLINE | ID: mdl-29550775

RESUMEN

PURPOSE: The Nineteen and Up study (19Up) assessed a range of mental health and behavioural problems and associated risk factors in a genetically informative Australian cohort of young adult twins and their non-twin siblings. As such, 19Up enables detailed investigation of genetic and environmental pathways to mental illness and substance misuse within the Brisbane Longitudinal Twin Sample (BLTS). PARTICIPANTS: Twins and their non-twin siblings from Queensland, Australia; mostly from European ancestry. Data were collected between 2009 and 2016 on 2773 participants (age range 18-38, 57.8% female, 372 complete monozygotic pairs, 493 dizygotic pairs, 640 non-twin siblings, 403 singleton twins). FINDINGS TO DATE: A structured clinical assessment (Composite International Diagnostic Interview) was used to collect lifetime prevalence of diagnostic statistical manual (4th edition) (DSM-IV) diagnoses of major depressive disorder, (hypo)mania, social anxiety, cannabis use disorder, alcohol use disorder, panic disorder and psychotic symptoms. Here, we further describe the comorbidities and ages of onset for these mental disorders. Notably, two-thirds of the sample reported one or more lifetime mental disorder.In addition, the 19Up study assessed general health, drug use, work activity, education level, personality, migraine/headaches, suicidal thoughts, attention deficit hyperactivity disorder (ADHD) symptomatology, sleep-wake patterns, romantic preferences, friendships, familial environment, stress, anorexia and bulimia as well as baldness, acne, asthma, endometriosis, joint flexibility and internet use.The overlap with previous waves of the BLTS means that 84% of the 19Up participants are genotyped, 36% imaged using multimodal MRI and most have been assessed for psychological symptoms at up to four time points. Furthermore, IQ is available for 57%, parental report of ADHD symptomatology for 100% and electroencephalography for 30%. FUTURE PLANS: The 19Up study complements a phenotypically rich, longitudinal collection of environmental and psychological risk factors. Future publications will explore hypotheses related to disease onset and development across the waves of the cohort. A follow-up study at 25+years is ongoing.


Asunto(s)
Enfermedades en Gemelos/etiología , Trastornos Mentales/etiología , Adolescente , Adulto , Comorbilidad , Enfermedades en Gemelos/epidemiología , Enfermedades en Gemelos/metabolismo , Femenino , Estudio de Asociación del Genoma Completo , Humanos , Hidrocortisona/análisis , Estudios Longitudinales , Masculino , Trastornos Mentales/epidemiología , Trastornos Mentales/metabolismo , Prevalencia , Queensland/epidemiología , Factores de Riesgo , Factores Sexuales , Vitamina D/sangre , Adulto Joven
11.
Contemp Clin Trials ; 74: 61-69, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-30287268

RESUMEN

BACKGROUND: Genetic factors contribute to anorexia nervosa (AN); and the first genome-wide significant locus has been identified. We describe methods and procedures for the Anorexia Nervosa Genetics Initiative (ANGI), an international collaboration designed to rapidly recruit 13,000 individuals with AN and ancestrally matched controls. We present sample characteristics and the utility of an online eating disorder diagnostic questionnaire suitable for large-scale genetic and population research. METHODS: ANGI recruited from the United States (US), Australia/New Zealand (ANZ), Sweden (SE), and Denmark (DK). Recruitment was via national registers (SE, DK); treatment centers (US, ANZ, SE, DK); and social and traditional media (US, ANZ, SE). All cases had a lifetime AN diagnosis based on DSM-IV or ICD-10 criteria (excluding amenorrhea). Recruited controls had no lifetime history of disordered eating behaviors. To assess the positive and negative predictive validity of the online eating disorder questionnaire (ED100K-v1), 109 women also completed the Structured Clinical Interview for DSM-IV (SCID), Module H. RESULTS: Blood samples and clinical information were collected from 13,363 individuals with lifetime AN and from controls. Online diagnostic phenotyping was effective and efficient; the validity of the questionnaire was acceptable. CONCLUSIONS: Our multi-pronged recruitment approach was highly effective for rapid recruitment and can be used as a model for efforts by other groups. High online presence of individuals with AN rendered the Internet/social media a remarkably effective recruitment tool in some countries. ANGI has substantially augmented Psychiatric Genomics Consortium AN sample collection. ANGI is a registered clinical trial: clinicaltrials.govNCT01916538; https://clinicaltrials.gov/ct2/show/NCT01916538?cond=Anorexia+Nervosa&draw=1&rank=3.


Asunto(s)
Anorexia Nerviosa/diagnóstico , Adolescente , Adulto , Anciano , Anorexia Nerviosa/genética , Australia , Estudios de Casos y Controles , Dinamarca , Trastornos de Alimentación y de la Ingestión de Alimentos/diagnóstico , Femenino , Humanos , Internet , Persona de Mediana Edad , Nueva Zelanda , Selección de Paciente , Reproducibilidad de los Resultados , Encuestas y Cuestionarios , Suecia , Estados Unidos , Adulto Joven
12.
Sleep ; 30(10): 1378-86, 2007 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-17969472

RESUMEN

STUDY OBJECTIVES: Previous genetic investigations of sleep disturbance have shown various measures of sleep quality and sleep pattern to be heritable. But none of these studies have investigated the genetic predisposition to sleep disturbance attributed to caffeine. In this study, the heritability of coffee-attributed sleep disturbance and its relationship with other sleep measures were estimated, and chromosomal regions influencing this trait were identified. DESIGN: A classical twin design was used to estimate the heritability of coffee-attributed sleep disturbance and its genetic covariance with other measures of sleep disturbance (e.g., due to anxiety, depression) and sleep quality (e.g., variability in sleep quality). To locate quantitative trait loci influencing coffee-attributed sleep disturbance, a genome-wide linkage screen of 1395 microsatellite markers was performed. PARTICIPANTS: The study included 3808 Australian adult twin pairs (n = 1799 monozygous pairs; n = 2009 dizygous pairs). A subsample of 1989 individuals from 1175 families was used for the linkage analysis. MEASUREMENTS AND RESULTS: The heritability of coffee-attributed sleep disturbance (measured by self report) was approximately 0.40, with three fourths of this genetic variance explained by genes unrelated to the general sleep disturbance factor. One region of significant linkage to coffee-attributed sleep disturbance was identified on chromosome 2q (LOD score of 2.9). CONCLUSIONS: Although no candidate genes known to be related to caffeine metabolism or sleep disorder were identified in the significant linkage region, 2 candidates were found under a smaller peak on chromosome 17q.


Asunto(s)
Estimulantes del Sistema Nervioso Central/efectos adversos , Café/efectos adversos , Enfermedades en Gemelos/genética , Predisposición Genética a la Enfermedad/genética , Trastornos del Inicio y del Mantenimiento del Sueño/genética , Fases del Sueño/genética , Adulto , Nivel de Alerta/efectos de los fármacos , Australia/epidemiología , Cromosomas Humanos Par 7 , Femenino , Humanos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Trastornos del Inicio y del Mantenimiento del Sueño/inducido químicamente , Fases del Sueño/efectos de los fármacos , Encuestas y Cuestionarios
13.
Environ Sci Process Impacts ; 19(10): 1320-1326, 2017 Oct 18.
Artículo en Inglés | MEDLINE | ID: mdl-28861557

RESUMEN

Firefighters are known to be exposed to a wide variety of combustion products during operational and training firefighting activities. However, the potential for exposure to diesel exhaust emissions, recently classified as carcinogenic to humans by the International Agency for Research on Cancer, also exists within the fire station environment. In this study, concentrations of diesel particulate matter and polycyclic aromatic hydrocarbons have been measured in the engine bays, duty offices and dormitory areas of eight fire stations in Queensland, Australia. Operation of fire appliances and mechanical equipment during start of shift checks were found to contribute more strongly to overall engine bay diesel particulate matter concentrations than the number of fire appliance departures and returns. Polycyclic aromatic hydrocarbons were found to be transported further into fire station living environments than diesel particulate matter. This study highlights a number of potential strategies for reducing firefighter exposures to components of diesel engine exhaust in the fire station environment.


Asunto(s)
Contaminación del Aire Interior/análisis , Bomberos , Exposición Profesional/análisis , Material Particulado/análisis , Hidrocarburos Policíclicos Aromáticos/análisis , Emisiones de Vehículos/análisis , Carcinógenos/análisis , Humanos , Exposición Profesional/prevención & control , Queensland
14.
Addiction ; 100(10): 1510-7, 2005 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-16185212

RESUMEN

AIMS: To investigate the genetic and environmental influences on tea consumption and their commonalities with coffee consumption; and to further examine the genetic and environmental aetiology of preference for tea/coffee. DESIGN: A classical twin design was used in which the similarity of identical and non-identical twins is compared, enabling estimates of genetic, common environmental and unique environmental influence on the trait. SETTING AND PARTICIPANTS: An Australian population-based sample of 1796 identical (i.e. monozygotic) and 2013 non-identical (i.e. dizygotic) twin pairs aged 16-87 years was studied, roughly three-fifths of whom were female. The sample represented approximately 70% of those approached for study participation. MEASUREMENTS: As part of a Health and Lifestyle Questionnaire, respondents were asked how many cups of each tea and coffee they consumed per day. Additional measures of 'total tea and coffee consumption' and 'preference for coffee' were calculated. FINDINGS: Age was positively associated with tea consumption but negatively associated with coffee preference; women consumed more beverages than men, but showed a lower preference for coffee. An inverse relation between tea and coffee consumption--larger in females (-0.41) than males (-0.34)--was supported. This association was mediated entirely by the unique environment in males, and by both the unique environment (68.3%) and genes (31.7%) in females. Tea and coffee drinking were shown to have similar heritabilities (0.46) in males, but tea consumption was influenced by common environmental factors whereas coffee consumption was not. Coffee preference was shown to be influenced by genes (0.42) and the unique environment (0.58). CONCLUSIONS: As the patterns of genetic and environmental variation were shown to differ for tea and coffee consumption it may be more informative to retain them as separate measures of caffeine intake in future studies of stimulant use and taste perception.


Asunto(s)
Cafeína/administración & dosificación , Café , Conducta de Ingestión de Líquido/fisiología , , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Encuestas y Cuestionarios
15.
Twin Res Hum Genet ; 8(1): 27-33, 2005 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-15836807

RESUMEN

This study reports on genetic and environmental influences on the frequency of orgasm in women during sexual intercourse, during other sexual contact with a partner, and during masturbation. Participants were drawn from the Australian Twin Registry, and recruited from a large, partly longitudinal twin-family study. Three thousand and eighty women responded to the anonymous self-report questionnaire, including 667 complete monozygotic (MZ) pairs and 377 complete dizygotic (DZ) same-sex pairs, 366 women from complete DZ opposite-sex pairs, and 626 women whose co-twins did not participate. Significant twin correlations were found for both MZ and DZ twin pairs for all three items of interest. Age effects were statistically significant for some items. Models incorporating additive genetic, shared and nonshared environmental influences provided the best fit for Items 1 and 3, while a model with additive and nonadditive genetic influences along with nonshared environment fitted the data from Item 2. While an independent pathway model fits the data most par-simoniously, a common pathway model incorporating additive genetic (A), shared environment (C), and unique environment (E) effects cannot be ruled out. Overall, genetic influences account for approximately 31% of the variance of frequency of orgasm during sexual intercourse, 37% of the variance of frequency of orgasm during sexual contact other than during intercourse, and 51% of the variance of frequency of orgasm during masturbation. Following Baker (1996), we speculate that this additive genetic variance might arise from frequency-dependent selection for a variety of female sexual strategies.


Asunto(s)
Orgasmo , Ambiente , Femenino , Genética Conductual , Humanos , Análisis Multivariante
16.
J Clin Endocrinol Metab ; 87(2): 682-6, 2002 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-11836304

RESUMEN

Previous studies have shown a significant effect of insulin administration on serum dehydroepiandrosterone sulfate (DHEA-S) concentration and its metabolic rate, with evidence for the effect in men, but not in women. This could lead to differences in the sources of variation in serum DHEA-S between men and women and in its covariation with insulin concentration. This study aimed to test whether these hypotheses were supported in a sample of healthy adult twins. Serum DHEA-S (n = 2287) and plasma insulin (n = 2436) were measured in samples from adult male and female twins recruited through the Australian Twin Registry. Models of genetic and environmental sources of variation and covariation were tested against the data. DHEA-S showed substantial genetic effects in both men and women after adjustment for covariates, including sex, age, body mass index, and time since the last meal. There was no significant phenotypic or genetic correlation between DHEA-S and insulin in either men or women. Despite the experimental evidence for insulin infusion producing a reduction in serum DHEA-S and some effect of meals on the observed DHEA-S concentration, there were no associations between insulin and DHEA-S at the population level. Variations in DHEA-S are due to age, sex, obesity, and substantial polygenic genetic influences.


Asunto(s)
Sulfato de Deshidroepiandrosterona/sangre , Variación Genética , Insulina/sangre , Adulto , Envejecimiento/sangre , Índice de Masa Corporal , Estudios de Cohortes , Ambiente , Femenino , Humanos , Masculino , Persona de Mediana Edad
17.
Eur J Hum Genet ; 10(10): 616-22, 2002 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-12357332

RESUMEN

The choice of genotyping families vs unrelated individuals is a critical factor in any large-scale linkage disequilibrium (LD) study. The use of unrelated individuals for such studies is promising, but in contrast to family designs, unrelated samples do not facilitate detection of genotyping errors, which have been shown to be of great importance for LD and linkage studies and may be even more important in genotyping collaborations across laboratories. Here we employ some of the most commonly-used analysis methods to examine the relative accuracy of haplotype estimation using families vs unrelateds in the presence of genotyping error. The results suggest that even slight amounts of genotyping error can significantly decrease haplotype frequency and reconstruction accuracy, that the ability to detect such errors in large families is essential when the number/complexity of haplotypes is high (low LD/common alleles). In contrast, in situations of low haplotype complexity (high LD and/or many rare alleles) unrelated individuals offer such a high degree of accuracy that there is little reason for less efficient family designs. Moreover, parent-child trios, which comprise the most popular family design and the most efficient in terms of the number of founder chromosomes per genotype but which contain little information for error detection, offer little or no gain over unrelated samples in nearly all cases, and thus do not seem a useful sampling compromise between unrelated individuals and large families. The implications of these results are discussed in the context of large-scale LD mapping projects such as the proposed genome-wide haplotype map.


Asunto(s)
Errores Diagnósticos , Frecuencia de los Genes , Genotipo , Haplotipos , Desequilibrio de Ligamiento , Proyectos de Investigación
18.
Twin Res ; 6(1): 62-6, 2003 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-12626230

RESUMEN

Age-related changes in the composition of the cartilage matrix may be associated with the development of osteoarthritis, a relatively late-onset disease characterised by the destruction of joint cartilage. In order to investigate whether differences in the VNTR polymorphic region of aggrecan affect cartilage functionality and therefore the development of osteoarthritis, we examined the aggrecan polymorphic genotypes of a sample of 134 Australian twins aged over 50 (including 34 monozygotic and 27 dizygotic twin pairs). Clinical measures of hand, hip and knee osteoarthritis, as well as self-reported bone and joint pain, were tested for association with the aggrecan polymorphism. The results were consistent with either a deleterious effect of allele 27, or a protective effect of alleles 25 and 28, providing some additional evidence for an association between the aggrecan VNTR polymorphism and osteoarthritis of the hands, hips and knees.


Asunto(s)
Enfermedades en Gemelos , Proteínas de la Matriz Extracelular , Mano , Repeticiones de Minisatélite/genética , Osteoartritis de la Cadera/genética , Osteoartritis de la Rodilla/genética , Osteoartritis/genética , Polimorfismo Genético , Proteoglicanos/genética , Agrecanos , Alelos , Australia , Genotipo , Humanos , Lectinas Tipo C , Persona de Mediana Edad
19.
Twin Res ; 7(1): 39-53, 2004 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-15053853

RESUMEN

Because the determinants of anxiety and depression in late adolescence and early adulthood may differ from those in later life, we investigated the temporal stability and magnitude of genetic and environmental correlates of symptoms of anxiety and depression across the life span. Data were collected from a population-based Australian sample of 4364 complete twin pairs and 777 singletons aged 20 to 96 years who were followed-up over three studies between 1980 and 1996. Each study contained the 14-item self-report DSSI/sAD scale which was used to measure recently experienced symptoms of anxiety and depression. Symptom scores were then divided and assigned to age intervals according to each subject's age at time of participation. We fitted genetic simplex models to take into account the longitudinal nature of the data. For male anxiety and depression, the best fitting simplex models comprised a single genetic innovation at age 20 which was transmitted, and explained genetic variation in anxiety and depression at ages 30, 40, 50 and 60. Most of the lifetime genetic variation in female anxiety and depression could also be explained by innovations at age 20 which were transmitted to all other ages; however, there were also smaller age-dependent genetic innovations at 30 for anxiety and at 40 and 70 for depression. Although the genetic determinants of anxiety and depression appear relatively stable across the lifespan for males and females, there is some evidence to support additional mid-life and late age gene action in females for depression. The fact that midlife onset for anxiety occurs one decade before depression is also consistent with a causal relationship (anxiety leading to depression) between these conditions. These findings have significance for large scale depression prevention projects.


Asunto(s)
Ansiedad/genética , Depresión/genética , Ambiente , Adulto , Factores de Edad , Anciano , Australia , Femenino , Humanos , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Análisis Multivariante , Factores Sexuales , Encuestas y Cuestionarios
20.
Twin Res ; 5(2): 98-106, 2002 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-11931687

RESUMEN

In order to investigate the genetic and environmental antecedents of osteoarthritis (OA), self-report measures of joint pain, stiffness and swelling were obtained from a population-based sample of 1242 twin pairs over 50 years of age. In order to provide validation for these self-report measures, a subsample of 118 twin pairs were examined according to the American College of Rheumatology clinical and radiographic criteria for the classification of osteoarthritis. A variety of statistical methods were employed to identify the model derived from self-report variables which would provide optimal prediction of these standardised assessments, and structural equation modelling was used to determine the relative influences of genetic and environmental influences on the development of osteoarthritis. Significant genetic effects were found to contribute to osteoarthritis of the hands, hips and knees in women, with heritability estimates ranging from 30-46% depending on the site. In addition, the additive genetic effects contributing to osteoarthritis in various parts of the body were confirmed to be the same. Statistically significant familial aggregation of osteoarthritis in men was also observed, but it was not possible to determine whether this was due to genetic or shared environmental effects.


Asunto(s)
Enfermedades en Gemelos , Osteoartritis/diagnóstico , Autoexamen , Anciano , Anciano de 80 o más Años , Australia/epidemiología , Enfermedades en Gemelos/epidemiología , Enfermedades en Gemelos/genética , Edema/diagnóstico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Osteoartritis/epidemiología , Osteoartritis/genética , Osteoartritis/patología , Dolor/diagnóstico , Análisis de Regresión , Muestreo , Autoexamen/estadística & datos numéricos , Sensibilidad y Especificidad , Factores Sexuales , Encuestas y Cuestionarios
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