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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↗
PubMed1981

Coronary artery disease in twins.

In two pairs of monozygotic twins with coronary artery disease who were studied by coronary angiography, there were striking similarities in the clinical course, response to exercise, and distribution of coronary artery disease. Though it is difficult to distinguish between heredity as an independent risk factor and the other major risk factors, the similarities in each twin pair may be best explained by identical heredity.

Adult↗
PubMed1978

Takayasu's disease in twin sisters. Possible genetic factors.

Takayasu's disease is well-known for its characteristic clinical features and its elusive etiology. Recently, we encountered twin Japanese sisters, both of whom were diagnosed as having Takayasu's disease. The parents, two sisters, and one brother are healthy. Family history revealed the parents are first cousins. Analyses of serveral blood types and HLA typing were performed on all members of the family, and it was confirmed that these twins are monozygotic. Moreover, HLA typing analyses revealed that one haplotype found in the father was passed only to these twins. The history of consanguinity of the parents, the occurrence in twins, and the results of HLA typing suggest a genetic factor in the etiology of Takayasu's disease.

Adolescent↗
PubMed1995

Moyamoya disease in twins.

Tc-99m HMPAO SPECT was used to evaluate regional blood flow in one monozygotic twin who had angiographically proven moyamoya disease. Focal and global reduced regional cerebral perfusion were observed in both patients with Tc-99m HMPAO SPECT studies. There was good correlation between the localization and degree of regional cerebral blood flow abnormalities and the severity and stage of clinical symptoms on angiography. These results suggest that Tc-99m HMPAO SPECT is a useful method in the detection of hemodynamic abnormalities in moyamoya disease.

Brain↗
PubMed2002

Hypertensive disease in twin pregnancies: a review.

Reports over the past seventy years show that twin gestations lead to an increased risk of hypertensive disorders. Numerous studies discuss the incidence of hypertensive disease in twin versus singleton gestations, as well as effects of parity, race, age, income level, smoking, zygosity and heritability on this condition. The range of relative risk of gestational hypertension, preeclampsia and eclampsia for twin compared to singleton gestations is 1.2 to 2.7, 2.8 to 4.4 and 3.4 to 5.1 respectively. Parity, African-American ethnicity, and young maternal age are all factors that increase the relative risk of acquiring hypertensive disease to 4.0, 1.8 and 1.5 in mothers of twin gestations. Factors such as maternal smoking, income level and zygosity have a negligible effect on the relative risk of acquiring hypertensive disease in twin gestations. In addition to twin mothers exhibiting a higher incidence of hypertensive disease compared to their singleton counterparts, they also exhibit an earlier onset of hypertensive disease at both 35 and 37 weeks of gestation comparatively. Uric acid levels measured at 30-31 weeks of gestation in twin mothers predicted the onset of preeclampsia with a sensitivity of 73% and a specificity of 74%. The range of risks presented in the literature is wide and the therapies avocated are diverse. We therefore decided to summarize the risks in a comparative fashion and to review current therapeutic strategies for the convenience of clinicians who confront increasing numbers of multiple pregnancies. The tables bring all recent published risks together in the first comparative analysis in which the data has been converted to relative risks and confidence intervals. Because the literature is relatively silent on specific management of hypertensive disease in twin pregnancies, general management recommendations for singleton gestations should be used by practitioners caring over twin gestations.

Eclampsia↗
PubMed2001

Promoter polymorphism of the CD14 endotoxin receptor gene as a risk factor for alcoholic liver disease.

Twin concordance studies indicate that genetic factors influence the individual susceptibility for alcoholic liver disease (ALD). Both clinical and experimental data suggest that Kupffer cell activation by gut-derived endotoxins and other bacterial products is an important pathogenic factor. Activated Kupffer cells release proinflammatory cytokines, a process that is regulated by the CD14 endotoxin receptor (CD14). Recently, a C-->T (-159) polymorphism in the promoter region of the CD14 gene was detected and found to confer increased CD14 expression. In the present study, the association of CD14 promoter polymorphism with different forms of ALD was examined in 3 separate autopsy series. Among 442 men with valid alcohol-consumption data, 381 men had been moderate or heavy alcohol consumers. The allele frequency of the CD14 promoter genotype, determined by a modified cycle minisequencing technique, was 0.34 (CC), 0.51 (CT), and 0.16 (TT). The T allele was found to be associated with advanced ALD, i.e., with alcoholic hepatitis (odds ratio [OR]: 2.48; P = .018), and especially with cirrhosis (OR: 3.45; P = .004), but not with fatty liver, periportal fibrosis, or bridging fibrosis. The overall age-adjusted risk for cirrhosis was 3.08 (P = .01) for the carriers of the CT genotype, and 4.17 (P = .005) for the homozygous TT genotype. These results suggest that in the relatively isolated Finnish population, the T allele confers increased risk of alcoholic liver damage. In particular, TT homozygotes are at a high risk to develop cirrhosis.

Adult↗
PubMed1999

Parkinson disease in twins: an etiologic study.

CONTEXT: The cause of Parkinson disease (PD) is unknown. Genetic linkages have been identified in families with PD, but whether most PD is inherited has not been determined. OBJECTIVE: To assess genetic inheritance of PD by studying monozygotic (MZ) and dizygotic (DZ) twin pairs. DESIGN: Twin study comparing concordance rates of PD in MZ and DZ twin pairs. SETTING AND PARTICIPANTS: A total of 19842 white male twins enrolled in the National Academy of Sciences/National Research Council World War II Veteran Twins Registry were screened for PD and standard diagnostic criteria for PD were applied. Zygosity was determined by polymerase chain reaction or questionnaire. MAIN OUTCOME MEASURE: Parkinson disease concordance in twin pairs, stratified by zygosity and age at diagnosis. RESULTS: Of 268 twins with suspected parkinsonism and 250 presumed unaffected twin brothers, 193 twins with PD were identified (concordance-adjusted prevalence, 8.67/1000). In 71 MZ and 90 DZ pairs with complete diagnoses, pairwise concordance was similar (0.129 overall, 0.155 MZ, 0.111 DZ; relative risk, 1.39; 95% confidence interval, 0.63-3.1). In 16 pairs with diagnosis at or before age 50 years in at least 1 twin, MZ concordance was 1.0 (4 pairs), and DZ was 0.167 (relative risk, 6.0; 95% confidence interval, 1.69-21.26). CONCLUSIONS: The similarity in concordance overall indicates that genetic factors do not play a major role in causing typical PD. No genetic component is evident when the disease begins after age 50 years. However, genetic factors appear to be important when disease begins at or before age 50 years.

Adult↗
PubMed1992

Parkinson's disease in twins studied with 18F-dopa and positron emission tomography.

We used 18F-dopa PET to examine concordance for dysfunction of the nigrostriatal dopaminergic system in 18 co-twins of patients with Parkinson's disease (PD) and scanned one clinically concordant monozygotic (MZ) twin pair, 17 asymptomatic co-twins (10 MZ, 7 dizygotic [DZ]), and 13 twins with PD (8 MZ, 5 DZ). Mean 18F-dopa uptake of the twins with PD was significantly reduced in putamen to 38% and in caudate to 66% of normal. Mean putamen 18F-dopa uptake for the 17 asymptomatic co-twins was also significantly reduced (86% of normal), as was putamen tracer uptake for the 10 MZ (87% of normal) and seven DZ (83% of normal) asymptomatic co-twin subgroups. Four of 10 MZ and two of seven DZ asymptomatic co-twins had putamen 18F-dopa uptake reduced more than 2 SDs below the normal mean. Three of these four asymptomatic MZ co-twins had tremor on examination at the time of PET and one has now developed PD 2 years later. Our PET findings give concordances for nigral dysfunction of 45% in the MZ pairs and 29% in the DZ pairs at a 2-SD threshold, and 18% in MZ and 0% in DZ pairs at a 3-SD threshold of significance. These data suggest that the concordance for nigral pathology in PD twins may be higher than previously realized and that the presence of an isolated postural or rest tremor may be a phenotypic expression of PD.

Adult↗