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At least 19 recordsLinked to original sources
PubMed1997

British motor neuron disease twin study.

OBJECTIVES: To investigate the cause of sporadic motor neuron disease (MND) by twin study, so allowing (1) estimation of the genetic contribution, and (2) collection of matched pairs for a case-control study of possible environmental factors. METHODS: 10872 death certificates bearing the diagnosis MND were collected from 1979 to 1989 inclusive. Inspection of individual birth entries allowed identification of potential twins. The status of each co-twin was determined and contact made through the National Health Service Central Register (NHS-CR) and their general practitioner (GP). The diagnosis of MND was verified via the co-twin and relatives, and medical records where available. Zygosity was assessed using a recognised questionnaire. Details concerning environmental exposures and health were gathered by interview of cotwin and relatives using a semistructured questionnaire. Heritability (h2) of MND was estimated, and the environmental information was analysed by conditional logistic regression modelling. RESULTS: Seventy seven probands were identified, of whom 26 were monozygotic and 51 dizygotic. Four monozygotic probands were concordant, but two probands came from a family known to have familial MND. The estimated heritability was between 0.38 and 0.85. Most environmental risk factors were not significant. Regular vehicle maintenance (odds ratio (OR) = 7.0; 95% confidence interval (95% CI) 1.3-89.9) and occupational paint usage (OR = 3.75; 95% CI 1.0-17.1), however, occurred significantly more often in the affected cases. CONCLUSIONS: This "death discordant" method for twin collection has proved to be viable, and has allowed the ascertainment of a large population sample in a rare disease. The genetic role in sporadic MND is substantial, and higher than expected. Exposure to industrial chemicals, particularly constituents of petrochemicals and paints, may contribute to the aetiology of MND.

Adult↗
PubMed2000

Risk for Parkinson's disease: twin studies for the detection of asymptomatic subjects using [18F]6-fluorodopa PET.

Positron emission tomography (PET) studies were carried out with [18F]6-fluorodopa ([18F]6-FD) in monozygotic (MZ) and dizygotic (DZ) twins for the clarification of dopaminergic function. Four MZ and four DZ pairs of twins, each pair consisting of a parkinsonian index case and an asymptomatic co-twin, were collected from the Nationwide Twin Cohort. The control group comprised 14 healthy volunteers. [18F]6-FD PET examinations with a Siemens/CTI 931/08 scanner were performed dynamically over 90 min. The regions-of-interest analysis included the caudate, the putamen and the occipital reference regions. Patlak plots were calculated using occipital tissue input function. The accumulation of [18F]6-FD in the putamen of the asymptomatic co-twins was significantly lower than that in the normal subjects. This result implies that there may be a preclinical stage of Parkinson's disease in the apparently normal co-twins at the time of the PET study.

Analysis of Variance↗
PubMed1981

Twins with Alzheimer's disease.

Twins of identical appearance were both affected by Alzheimer's senile dementia. In one, dementia began in her late 60s. She died at age 74. In the other, onset was at age 83. She died of ovarian carcinoma at age 85. The histopathologic findings of Alzheimer's disease were confirmed in both twin sisters.

Aged↗
PubMed1994

Twin studies in rheumatic diseases.

Twin studies attract both clinicians and geneticists because of the value of the twin method in helping unravel the genetic predisposition to diseases and the role of environment in their causation. In the field of rheumatology, there are many case reports on twins concordant or discordant for diseases. Interesting as such reports may be, very few generalizations can be made from them. The concordance rate among monozygotic (MZ) twins indicates the maximum level of genetic contribution. Based on studies of systematically compiled twin series, the concordance rate is about 15% for rheumatoid arthritis; the rate is probably of the same order of magnitude for systemic lupus erythematosus (SLE). The fine specificity of antinuclear antibodies of MZ twins at least one of whom is affected by SLE is very similar, despite somatic generation of immune diversity. Up to now, twin studies have provided little information on the role of environmental factors in rheumatic diseases. A notable exception is a case-control study of MZ twins discordant for smoking that reinforced the role of smoking as a cause of lumbar intervertebral disc degeneration.

Arthritis, Rheumatoid↗
PubMed1976

Multicore disease in twins.

Multicore disease in identical twin boys presented in infancy as generalized weakness and torticollis. Motor milestones such as sitting, standing, and running were delayed, although by the age of 6 years marked improvement in muscle strength had occurred. Serum enzymes were normal. Muscle biopsy revealed multifocal areas of decreased oxidative enzyme activity. Ultrastructurally, these areas were characterized by myofilament disruption and Z-band streaming.

Child↗
PubMed1997

Alzheimer's disease in twins.

Besides familial Alzheimer's disease (AD), the genetic susceptibility has also been found in sporadic cases of AD, mostly related to the apolipoprotein E polymorphism. The penetrance of AD is determined by age and probably by environmental exposure. Gene-environment interaction of a disease can be examined through studies of twins. The relative roles of genetic and environmental influences can be estimated by comparing the concordance rates between monozygotic (MZ) and dizygotic (DZ) twins. Genetic models can be used to specify contributions both from genetic as well as shared and unique environmental effects. The role of environmental factors can be investigated in the co-twin control study, either by comparing environmental exposure in MZ twins discordant for a disease or by comparing MZ twins discordant for an exposure suspected of causing a particular disease. The sampling of twin pairs AD can be carried out using voluntary recruitment, linkage of twin and hospital discharge registries or screening of twin registry population. Potential sources of biases in sampling are discussed. The majority of the published twin studies on AD are case reports or based on selected materials. In MZ pairs, the concordance rates for AD have varied between 31% and 83%. Only one co-twin control study in twins discordant for AD has been published. Published twin studies on AD are briefly reviewed.

Alzheimer Disease↗
PubMed2000

Concordance of dermatitis herpetiformis and celiac disease in monozygous twins.

Celiac disease can be defined as the classical manifestation of gluten sensitivity, which primarily affects the small intestine. Gluten sensitivity has also a skin manifestation, i.e., dermatitis herpetiformis. Both diseases have a strong genetic association with HLA DQ on chromosome 6. In this study we tried to estimate how much different clinical expressions of gluten sensitivity are determined by genetic factors, and hence how feasible they are for genetic mapping; therefore, we studied all six monozygous twin pairs found among 1292 prospectively collected patients of dermatitis herpetiformis in Finland. Three of the six twin pairs were concordant for dermatitis herpetiformis and for simultaneous enteropathy, celiac disease. Two other twin pairs were partially discordant, one of each pair had dermatitis herpetiformis and celiac disease, whereas the other had solely the gut manifestation of gluten sensitivity, i.e., celiac disease. Only one pair was found to be discordant for gluten sensitivity. All the pairs had typical risk alleles for gluten sensitivity, i.e., either HLA DQ2 or DQ8. These results demonstrate that the genetic component in gluten sensitivity as broadly defined is very strong (5/6 concordant). Genetically identical individuals can have clearly distinguished phenotypes, either dermatitis herpetiformis or celiac disease, suggesting that environmental factors determine the exact phenotype of this multifactorial disease. These findings are of importance in genetic linkage analyses, which focus to only certain phenotypic properties of a complex trait.

Adult↗
PubMed1992

Threshold model in the genetics of age-dependent disease in twins: I. General principles as applied to Alzheimer disease.

In the context of the etiology and pathogenesis of Alzheimer disease (AD), we discuss assumptions under which categorical data on the phenotypes of twin pairs may be used to estimate standardized characteristics (correlation and the critical threshold) for an age-dependent multinomial process. Important topics include Erlangian, gamma, and Poisson processes, tetrachoric and trichoric functions, and degrees of freedom and how they relate to estimation from both an abstract and a practical standpoint. Under plausible assumptions about the age-dependence of a heritable trait, it is possible to generate sufficient degrees of freedom to test the genetic model and to explore age-dependence and the impact of environmental factors that may influence it systematically. Though general in scope, the model is focused on data from twin pairs. The statistical strategy is briefly outlined, but its properties are not examined in detail.

Aging↗
PubMed1979

Coeliac disease in identical twins.

Coeliac disease occurred at the same age in MZ twins. The diagnosis was confirmed by histology of the small intestine, rapid response to a gluten-free diet, and relapse after reintroduction of gluten.

Celiac Disease↗
PubMedDate not supplied

[Discordance in the onset of celiac disease in monozygotic twins].

Coeliac disease (CD) is a gluten intolerance caused by a combination of genetic and environmental factors such as nutrition and infections. Monozygotic twins appear to have a concordance for CD up to 71%. This paper reports a third case of late onset of CD in monozygotic twin girls. The twins were defined as monozygotic based upon paired clinical and laboratory examinations. Clinical examinations included genotypic, phenotypic and dermatoglyphic analysis, while laboratory examinations included HLA typing and blood groups. Following European Society of Pediatric Gastroenterology and Nutrition criteria, CD was diagnosed in both girls, though 4 years and 8/12 months apart. The twins achieved clinical, laboratory and histological remissions within 1 year, after the institution of a gluten-free diet. Genetic markers are undoubtedly the main precondition for CD development. Environmental factors, however, may play a more significant role in triggering the onset of disease.

Celiac Disease↗
PubMed1998

The immunogenetics of human infectious diseases.

Twin and adoptee studies have indicated that host genetic factors are major determinants of susceptibility to infectious disease in humans. Twin studies have also found high heritabilities for many humoral and cellular immune responses to pathogen antigens, with most of the genetic component mapping outside of the major histocompatibility complex. Candidate gene studies have implicated several immunogenetic polymorphisms in human infectious diseases. HLA variation has been associated with susceptibility or resistance to malaria, tuberculosis, leprosy, AIDS, and hepatitis virus persistence. Variation in the tumor necrosis factor gene promoter has also been associated with several infectious diseases. Chemokine receptor polymorphism affects both susceptibility ot HIV-1 infection and the rate of progression to AIDS. Inactivating mutations of the gamma-interferon receptor lead to increased susceptibility to typical mycobacteria and disseminated BCG infection in homozygous children. The active form of vitamin D has immunomodulatory effects, and allelic variants of the vitamin D receptor appear to be associated with differential susceptibility to several infectious diseases. NRAMP1, a macrophage gene identified by positional cloning of its murine homologue, has been implicated in susceptibility to tuberculosis in Africans. Whole genome linkage analysis of multi-case families is now being used to map and identify new loci affecting susceptibility to infectious diseases. It is likely that susceptibility to most microorganisms is determined by a large number of polymorphic genes, and identification of these should provide insights into protective and pathogenic mechanisms in infectious diseases.

Animals↗
PubMed1987

Ophthalmic disease in twins: a nationwide record linkage study of hospital discharges and free medications for 16,067 twin pairs.

Record linkage of the Finnish Twin Cohort Study with the Hospital Discharge Registry and with the Registry of Rights to Free Medication kept by the Social Insurance Institution gave following numbers of twin pairs with an ophthalmic disease (one or both members of the pair had the disease) in each disease category: 98 with glaucoma simplex (5 concordant pairs), 38 with capsular glaucoma (no concordant pairs), 58 with iritis (no concordant pairs) and 149 with strabismus (2 concordant pairs). The number of concordant pairs in each disease category was small, except for glaucoma simplex in which concordant pairs could be broken down by zygosity. The ratio of observed to expected (based on association by chance) was 6.96 for MZ and 1.74 for DZ pairs. This result suggests that genetic factors play some role in the variability of prevalence of simple glaucoma. Main etiologic factors are still to be found in the environment. Data on occurrence of other diseases of ophthalmologic importance is presented.

Adult↗