Dizygous Research Articles

Relationship of twin zygosity and risk of preeclampsia

Objective: Twin gestations are known to be at higher risk for preeclampsia. One theory suggests that maternal recognition of fetal and trophoblastic tissues as foreign may be a factor. If that hypothesis is true, mothers carrying monozygous (MZ) gestations (ie a single fetal graft) might be predicted to have a lower rate of preeclampsia than those carrying dizygous (DZ) gestations. To evaluate this hypothesis, we compared the rate of preeclampsia in mothers with MZ and DZ twin gestations. Study Design: Seven hundred sixty-eight twin deliveries from 1994 to 1999 were reviewed. Placental pathology reports were reviewed to determine the chorionic state of each placenta. Monochorionic placentas were assumed to be MZ. Dichorionic placentas were categorized as DZ if the neonates were of different sexes or different blood types. Maternal and fetal data were abstracted from the medical records. Preeclampsia was defined by standard criteria of the National Institutes of Health Working Group on High Blood Pressure. Our analysis was limited to women with pregnancies reaching at least 30 weeks of gestation where zygosity could be determined. Results: Our analysis included 464 twin pregnancies, 154 MZ and 310 DZ. Among nulliparous women, the rate of preeclampsia was 15% (25/170) for DZ twins versus 20% (15/75) for MZ twins (P =.3). Among multiparous women, the rate was 8% (11/140) for DZ twins and 5% (4/79) for MZ twins (P =.4). In a logistic regression performed to control for confounding by maternal age, gestational age at delivery, assisted reproduction, and male sex, dizygotic state was associated with an odds ratio of 1.4 (95% CI = 0.5-3.9) for developing preeclampsia in nulliparous women and 1.2 in multiparous women (95% CI = 0.3-5.0). Conclusions:: These results do not support the hypothesis that zygosity affects the rate of preeclampsia in twin gestations, though the number of subjects in our study was too small to allow definitive conclusions. Larger studies are needed to evaluate this finding. (Am J Obstet Gynecol 2001;185:819-21.)

Heritability and Gene–Environment Interactions for Melanocytic Nevus Density Examined in a U.K. Adolescent Twin Study

Risk factors for melanoma include environmental (particularly ultraviolet exposure) and genetic factors. In rare families, susceptibility to melanoma is determined by high penetrance mutations in the genes CDKN2A or CDK4, with more common, less penetrant genes also postulated. A further, potent risk factor for melanoma is the presence of large numbers of melanocytic nevi so that genes controlling nevus phenotype could be such melanoma susceptibility genes. A large Australian study involving twins aged 12 y of predominantly U.K. ancestry showed strong evidence for genetic influence on nevus number and density. We carried out essentially the same study in the U.K. to gain insight into gene-environment interactions for nevi. One hundred and three monozygous (MZ) and 118 dizygous (DZ) twin pairs aged 10-18 y were examined in Yorkshire and Surrey, U.K. Nevus counts were, on average, higher in boys (mean = 98.6) than girls (83.8) (p = 0.009) and higher in Australia (110.4) than in the U.K. (79.2, adjusted to age 12 y, p < 0.0001), and nevus densities were higher on sun-exposed sites (92 per m2) than sun-protected sites (58 per m2) (p < 0.0001). Correlations in sex and age adjusted nevus density were higher in MZ pairs (0.94, 95%CI 0.92-0.96) than in DZ pairs (0.61, 95%CI 0.49-0.72), were notably similar to those of the Australian study (MZ = 0.94, DZ = 0.60), and were consistent with high heritability (65% in the U.K., 68% in Australia). We conclude that emergence of nevi in adolescents is under strong genetic control, whereas environmental exposures affect the mean number of nevi.

A study of occlusal variation in the primary dentition of Australian twins and singletons

In this study, we quantified the extent of variation in different occlusal features of Australian children of European descent with complete primary dentitions, but no permanent teeth present in the mouth. The study group consisted of 412 individuals, aged between 3 and 7 years, including 70 monozygous (MZ) twin pairs, 68 same-sexed dizygous (DZ) twin pairs, 11 opposite-sexed DZ twin pairs, and 114 singletons. Occlusal traits, including inter-dental spacing, incisal overbite and overjet, arch breadth and arch depth, were obtained directly from dental casts or indirectly from photocopies or impressions of the casts. Descriptive statistics summarised the data and indicated that distributions were similar to those published for other populations. Univariate genetic analysis, using the structural equation modelling package Mx, was carried out on the quantitative data using the normal assumptions of the twin model. Genetic modelling indicated that a model incorporating additive genetic (A) and unique environmental variation (E) was the most parsimonious for interdental spacing, overbite, overjet and arch dimensions. Estimates of heritability for interdental spacing ranged from 0.62 to 0.81. Estimates for overbite and overjet were 0.53 and 0.28, respectively, and estimates for arch dimensions ranged from 0.69 to 0.89. These results indicated a moderate to relatively high genetic contribution to observed variation.

Genetic analysis of deciduous tooth size in Australian twins

Investigations of permanent dental crown size in twins and family groups indicate a high degree of transmissible control, but little is known about the relative contributions of genetic and environmental factors to variation in size of the deciduous (primary) teeth. Here, maximum mesiodistal and buccolingual crown dimensions of maxillary and mandibular primary teeth were measured from dental models of 602 individuals, including 99 monozygous (MZ) twin pairs, 81 dizygous (DZ) same-sex pairs, 41 DZ opposite-sex pairs, and 160 singletons. Data were subjected to univariate genetic analysis with the structural-equation-modelling package, Mx using the normal assumptions of the twin model. A model incorporating additive genetic (A) and unique environmental (E) variation was found to be the most parsimonious for all tooth-size variables. Estimates of heritability for deciduous crown size ranged from 0.62 to 0.91. This study shows that variation in deciduous crown size has a strong genetic component, similar to that observed in the permanent dentition. Further studies are required to determine whether the underlying genetic mechanisms are the same for both deciduous and permanent teeth.

Happy families: a twin study of humour.

The objective of this study was to estimate how much of an individual's appreciation of humour is influenced by genetic factors, the shared environment or the individual's unique environment. A population-based classical twin study of 127 pairs of female twins (71 monozygous (MZ) and 56 dizygous (DZ) pairs) aged 20-75 from the St Thomas' UK Adult Twin Registry elicited responses to five 'Far Side' Larson cartoons on a scale of 0-10. Within both MZ and DZ twin pairs, the tetrachoric correlations of responses to all five cartoons were significantly greater than zero. Furthermore, the correlations for MZ and DZ twins were of similar magnitude and in some cases the DZ correlation was greater than that of the MZ twins. This pattern of correlations suggests that shared environment rather then genetic effects contributes to cartoon appreciation. Multivariate model-fitting confirmed that these data were best explained by a model that allowed for the contribution of the shared environment and random environmental factors, but not genetic effects. However, there did not appear to be a general humour factor underlying responses to all five cartoons and no effect of age was seen. The shared environment, rather than genetic factors, explains the familial aggregation of humour appreciation as assessed by the specific 'off the wall' cognitive type of cartoons used in this study.

Happy families: a twin study of humour

AbstractThe objective of this study was to estimate how much of an individual's appreciation of humour is influenced by genetic factors, the shared environment or the individual's unique environment. A population-based classical twin study of 127 pairs of female twins (71 monozygous (MZ) and 56 dizygous (DZ) pairs) aged 20–75 from the St Thomas' UK Adult Twin Registry elicited responses to five ‘Far Side’ Larson cartoons on a scale of 0–10. Within both MZ and DZ twin pairs, the tetrachoric correlations of responses to all five cartoons were significantly greater than zero. Furthermore, the correlations for MZ and DZ twins were of similar magnitude and in some cases the DZ correlation was greater than that of the MZ twins. This pattern of correlations suggests that shared environment rather then genetic effects contributes to cartoon appreciation. Multivariate model-fitting confirmed that these data were best explained by a model that allowed for the contribution of the shared environment and random environmental factors, but not genetic effects. However, there did not appear to be a general humour factor underlying responses to all five cartoons and no effect of age was seen. The shared environment, rather than genetic factors, explains the familial aggregation of humour appreciation as assessed by the specific ‘off the wall’ cognitive type of cartoons used in this study. Twin Research (2000) 3, 17–22.

Fourier analysis of facial profiles of young twins.

Twins studies provide a powerful approach to determining the relative contribution of genetics and environment to observed variation. Such studies assume trait differences in monozygous (MZ) twins are due to environmental factors and those in dizygous (DZ) twins are due to both genetic and environmental factors. This study quantitated facial profiles of twins using Fourier equations, determining their value in profile analysis and the assessment of the genetic contribution to facial shape. Standardized profile slide photographs of 79 pairs of 4-6 year-old twins (37 MZ pairs, 42 DZ pairs) were scanned and x and y coordinates were extracted from each profile using sellion and Camper's plane as references. The coordinates were subjected to Fourier analysis and the normalised vertex projection coefficients were studied. The means of the differences between coefficients for MZ co-twins did not differ significantly from that of DZ co-twins, although the DZ group showed higher mean differences in the higher harmonics. Subjective examination of superimposed reconstructions showed wider variation between DZ co-twins than MZ co-twins. Correct classification of twins by discriminant function analysis using Fourier coefficients was similar for both groups (MZ: 70.3%; DZ: 73.8%). Fourier analysis could quantitate facial profiles of young children and differentiate some details, but was unable to discriminate between genetic and environmental influences, and any possible interactions between these influences, on their overall facial profiles at this developmental stage.

Chorion type as a possible influence on the results and interpretation of twin study data.

The estimation of genetic effects from twin studies usually relies upon the equal environment assumption--that monozygous (MZ) and dizygous (DZ) twin pairs experience equal similarity of their environments from prenatal experiences through adulthood. However, the sharing of a chorion may make a subset of identical twins more similar, or in some cases, more different, than twins that do not share a chorion. Recent studies suggest monochorionic MZ twins resemble one another more than dichorionic MZ twins in cognitive abilities, personality, and risk for psychiatric disorder. To the extent that prenatal environment affects these characteristics, the traditional twin method will yield biased estimates of genetic and environmental influences. We develop models for quantifying this bias and estimating the influence of chorion type on estimates of heritability.

Periodontal bacteria in adult twins.

Both environmental and genetic factors are known to influence clinical measures of periodontal disease. The purpose of this study was to determine whether genetic factors similarly influence the presence of specific periodontal bacteria in subgingival plaque. Reared-together and reared-apart monozygous (MZ) and dizygous (DZ) adult twins were examined clinically. Demographic and behavioral information was obtained from each subject by questionnaire. Subgingival plaque samples were obtained from the index teeth, and the presence of P. intermedia, P. gingivalis, A. actinomycetemcomitans, E. corrodens, and F. nucleatum was determined using an immunoassay. Microbiological and clinical data were available for 169 twin pairs. The subject-based prevalences of the bacteria in the twin groups ranged from 11% for Porphyromonas gingivalis to 40% for F. nucleatum. For all species examined, the concordance rates were not significantly different (P > 0.05) between MZ and DZ twin groups. These findings were apparent despite similar smoking histories, self-reported oral hygiene practices, and antibiotic use in the twin groups. Furthermore, MZ twins reared together were not more similar than MZ reared-apart twins with respect to any bacterial species examined. These findings suggest that in a population with access to routine dental care, any effects that host genes and the early family environment have on the presence of specific bacteria in subgingival plaque are not apparent in adulthood. Most twins with disease in this study had early periodontitis. Results from this study may not necessarily be extrapolated to more advanced disease states.

Genetic and environment in asthma: the answer of twin studies

et al. [1] presentthe results of a large Danish population-based twin studyon asthma. In this study, the heritability in liability to asth-ma, i.e. the proportion of variance due to genetic factors,is estimated to be 0.77 for males and 0.68 for females. Inother studies, the heritability of asthma is estimated to bebetween 0.36 and 0.75 [2–4] (table 1). Thus, the results ofthis Danish study are consistent with those of other twinstudies and add to the body of evidence indicating that thegeneticcontribution toasthma isconsiderable.Inaddition,the results of this study suggest individual specific, un-shared, environmental factors to be important as well. Inthis editorial, the assumptions and methods of twin stu-dies will be assessed, and the role of genetic and envir-onmental factors in asthma reviewed.Genetic studies using the twin-design have four majorassumptions [8]: 1) monozygous (MZ) and dizygous (DZ)twins are samples of the same gene pool; 2) twins are rep-resentative of the general population; 3) self-reported zy-gosity is correct in questionnaire-based studies; and 4) theenvironment for both MZ and DZ twins is similar.The first and second assumptions are valid, providedthat representative or complete samples are taken from thepopulation. The second assumption, the representativity,may not be totally valid because MZ and DZ twins differfrom each other and from singletons with respect to theirintrauterine environment [9]. The shared intrauterine envi-ronment may have an adverse effect on the growth andorgan maturation of the foetus. However, this most likelydoes not influence the development of asthma since theprevalence of asthma is comparable in twins and single-tons [1, 2, 4]. The third assumption has been tested [10,11]. In general, self-reported zygosity questions are ade-quate in 95–98% of cases. Finally, the fourth assumptionof an equal environment may not be valid in the case of as-thma. For instance, it has been shown that MZ twins havemore similar smoking patterns than DZ twins [12]. It isunknown whether or not this higher similarity in MZ twinsis also the case for other environmental factors, such as ex-posure to indoor allergens and viruses. A higher similarityin environment for MZ twins compared to DZ twins maylead to an overestimation of the heritability of asthma.The method for diagnosing asthma is a self-reportedquestionnaire in most large-scale twin studies. Subjects inthese studies are not tested clinically. This method maylead to an under- or overestimation of asthma prevalence[13, 14]. Overestimation could occur, for instance, ifasthma is diagnosed by questions on wheeze. Small chil-dren in particular may wheeze during the course of a res-piratory infection but not have asthma [15]. Therefore,studies on the genetics of asthma are currently directed atmeasurable clinical components of asthma, e.g. airwayhyperresponsiveness (AHR), reversibility and variabilityof airway obstruction. If it were known which of thesecomponents of asthma have a high genetic contribution,these components could then be selected for genetic stud-ies to find genes that regulate these components. As an ex-ample, one twin study of reasonable size on AHR hasbeen published, in which the heritability of AHR to meth-acholine was 0.66 [16]. Clearly, more studies are needed.In general, statistical analyses of twin studies are com-plicated. In the study of twins, phenotypic similarities anddifferences are compared between MZ and DZ twins. MZtwins share 100% of their genetic information and DZtwins share on average 50%. If a trait is influenced bygenetic factors, MZ twins should resemble each other to agreater extent than DZ twins, and the correlations betweenMZ and DZ twin pairs may be used to estimate the rela-tive size of genetic and environmental influences.In biometric modelling, one goes a step further. Sincethese biometric analyses are not frequently presented inpulmonary journals, some assumptions and methods willbe addressed before discussing the results of these analy-ses in the study of asthma. In biometric modelling, aquantitative genetic analysis can be performed with di-chotomous variables (e.g. asthma/not asthma). To permitthese analyses, the first assumption is that disease status isdetermined by an unobserved continuous variable calledthe liability. If the liability falls above a threshold individ-uals are classified as affected. The second assumption isthat the distribution of the liability is normal [17]. Thevariance of the distribution of the liability is composed ofmultiple environmental and genetic influences. The envi-ronmental component can be dissected in influences sharedby both twins and influences not shared. Furthermore, thegenetic component consists of an effect of individual alle-les on the trait (additive effect) or interaction between al-leles at the same locus (dominance effect) [8]. The lastpossible source of genetic effects, i.e. interaction of allelesat different loci (epistasis) cannot be discriminated fromdominant genetic effects in twin studies, which is a lim-itation of this design. Thus, the observed phenotypes P1 oftwin 1 and P2 of twin 2 of a twin pair, will be linear func-tions of the underlying additive genetic influences (A-twin

Hay fever--a Finnish nationwide study of adolescent twins and their parents.

Like other atopic diseases, hay fever is known to cluster in families. This clustering is due either to effects of a shared family environment or to genetic inheritance. By comparing the occurrence of hay fever among monozygous (MZ) and dizygous (DZ) twin pairs, we were able to estimate the contribution of genetic and environmental factors in the development of hay fever. A questionnaire mailed to a nationwide sample of 2483 families with 16-year-old twins furnished data for the cumulative incidence of physician-diagnosed hay fever among these adolescents and their parents. Among the 1765 twin pairs with data available for analysis, hay fever was reported for 14.1% of boys (95% CI=12.4-15.8%) and 10.0% of girls (95% CI=8.6-11.4%). The MZ twin pairs (probandwise concordance rate=60.3%, 95% CI =52-68%) were significantly more concordant for hay fever than were DZ twin pairs (31.5%, 95% CI=26-36%). Genetic factors accounted for 74-82% of the interindividual variability in liability to hay fever, variation in shared family environment for 7% at most, and unique (individual) environment for 18%. Familial occurrence of hay fever is mainly due to genes predisposing to the trait. Environmental exposures shared in common by family members but varying between families appear to account for at most a modest proportion of the variability in risk of developing hay fever.

Epilepsies in twins: genetics of the major epilepsy syndromes.

We studied twins to examine the genetics of epilepsy syndromes. We ascertained 358 twin pairs in whom one or both reported seizures. After evaluation, 253 of 358 (71%) had seizure disorders and 105 pairs were false positives. Among the monozygous (MZ) pairs, more were concordant for seizures (48 of 108; casewise concordance = 0.62 +/- 0.05) than among the dizygous (DZ) pairs (14 of 145; casewise concordance = 0.18 +/- 0.04). In 94% of concordant MZ pairs, and 71% of concordant DZ pairs, both twins had the same major epilepsy syndrome. When analyzed according to major epilepsy syndrome, the casewise concordances for generalized epilepsies (MZ = 0.82; DZ = 0.26), both idiopathic (MZ = 0.76; DZ = 0.33) and symptomatic (MZ = 0.83; DZ = 0), were greater than those for partial epilepsies (MZ = 0.36; DZ = 0.05), with intermediate values seen for febrile seizures (MZ = 0.58; DZ = 0.14) and unclassified epilepsies (MZ = 0.53; DZ = 0.18). We conclude that genetic factors are particularly important in the generalized epilepsies but also play a role in the partial epilepsies. The high frequency of concordant MZ pairs with the same major syndrome strongly suggests there are syndrome-specific genetic determinants rather than a broad genetic predisposition to seizures.

Genetic influences on muscle strength, lean body mass, and bone mineral density: a twin study.

Lean body mass and muscle strength are both associated with bone mineral density (BMD), which is known to be under strong genetic control. In this classical twin study, we examine the size of the genetic component of both muscle strength and lean body mass and to what degree they account for the genetic component of BMD. In all, 706 postmenopausal women were examined; 227 pairs of monozygous (MZ) twins and 126 pairs of dizygous (DZ) twins. Grip strength was measured using a hand-help grip bulb and leg strength using a dynamic leg extensor power rig. Lean body mass and BMD at multiple sites were measured by dual-energy X-ray absorptiometry. BMD correlated with both leg extensor strength (r = 0.16-0.26) and grip strength (r = 0.12-0.21). Lean mass was significantly correlated with BMD at all sites (r = 0.20-0.39). All three muscle variables have a moderate genetic component with heritability estimates of 0.52 for lean body mass, 0.46 for leg extensor strength, and 0.30 for grip strength (all p < 0.05). The genetic component of BMD was not significantly reduced after adjusting for lean mass and muscle strength, with less than 20% of the genetic variance of BMD explained by the muscle variables. In conclusion, these data suggest that the three muscle variables have a modest genetic component, suggesting the potential for clinical intervention and lifestyle modifications. The genetic component to muscle bulk and strength accounts for little of the genetic component to BMD, confirming the rationale for research into bone-specific genes.

Genetic factors in the aetiology of mouth ulcers.

The aetiology of mouth ulcers is uncertain, and prior research has indicated both environmental and genetic factors. In this study, information on mouth ulcer incidence was collected for 290 twin pairs--127 monozygous (MZ) and 163 dizygous (DZ)--and their parents, a total of 1,160 people. Self-reported data on mouth ulcer incidence were available for the twins, and in each family the mother also reported on the mouth ulcer incidence in the twins, the twins' father, and herself. A structural equation model--combining a measurement model, a rater bias model, and a model including genetic and environmental influences--was used to explain variation in mouth ulcers. The fitted model explained the variation in a latent phenotype of mouth ulcer incidence for the twins in terms of an additive genetic factor (64%), a common environment factor (26%), and a specific environment factor (10%). The mothers' ratings showed a significant positive bias.

Determinants of hip axis length in women aged 10–89 years: A twin study

Hip axis length (HAL), a measure of femoral geometry, has been shown to predict hip fracture in white women over the age of 67 years, independently of bone mineral density at the femoral neck. A cross-sectional study of 304 pairs of female twins [176 monozygous (MZ) and 128 dizygous (DZ)], aged between 10 and 89 years, was performed to examine the influence of age, constitutional, lifestyle, and genetic factors on HAL. HAL was calculated from dual energy X-ray absorptiometry scans of the proximal femur using an automated technique with an Hologic QDR-1000W. Lean mass, fat mass, height, and weight were also measured. Maximum mean HAL was achieved by the age of 15 years. After this age there was no discernible dependency of mean HAL on age. Using within-pair differences, after adjusting for height there were no other independent constitutional or lifestyle predictors. Cross-sectionally, after adjustment for height, MZ and DZ correlations were 0.79 (95% CI: 0.73-0.84) and 0.54 (95% CI: 0.39-0.68), respectively, and independent of age. The MZ correlation exceeded the DZ correlation (p < 0.001). The best-fitting model apportioned 79% (SE 7%) of variation in height-adjusted HAL to additive genetic factors. There was marginal evidence that an environmental influence shared by twins explained 31% (SE 16%) of height-adjusted variance (p = 0.07), in which case the genetic variance was reduced to 51% (SE 15%). Adjustment for height had reduced the magnitude of total variance by 26%, and 95% of this reduction was in the additive genetic component. Applying a previously described theoretical model, approximately 10% of the increased risk of hip fracture associated with a maternal history of hip fracture could be attributed to the genetic factors determining HAL. We conclude that, in women, adult HAL is achieved by midadolescence. After adjustment for height, which is itself largely under genetic influence, other genetic factors appear to play the predominant role in explaining variation in HAL.

Lean body mass in twins

A study of 49 pairs of monozygous (MZ) twins and 38 pairs of same-sexed dizygous (DZ) twins showed that lean body mass (LBM), as determined by potassium 40 counting, is under genetic influence. Intrapair variances for LBM are much smaller than those for body fat, which suggests that LBM has a higher degree of heritability. There is a correlation between the magnitude of intrapair LBM differences and intrapair weight differences for both sets of twins, showing that environment is also an important influence. The effect of weight variation on LBM variation is greater for thin people than for those with appreciable burdens of body fat, an observation previously made on individuals who undergo a nutrition-induced weight change.

Genetic Covariance Structure of Incisor Crown Size in Twins

Previous studies of tooth size in twins and their families have suggested a high degree of genetic control, although there have been difficulties separating the various genetic and environmental effects. A genetic analysis of variation in crown size of the permanent incisors of South Australian twins was carried out, with structural equation modeling used to determine the relative contributions of genetic and environmental factors. Maximum mesiodistal crown dimensions of maxillary and mandibular permanent incisors were recorded from dental models of 298 pairs of twins, including 149 monozygous (MZ) and 149 dizygous (DZ) pairs. The analysis revealed that: (i) an adequate fit required additive genetic and unique environmental components; (ii) augmenting the model with non-additive genetic variation did not lead to a significant improvement in fit; (iii) there was evidence of shared environmental influences in the upper central incisors of males; (iv) the additive genetic component constituted a general factor loading on all eight teeth, with group factors loading on antimeric pairs of teeth; (v) unique environmental effects were mostly variable-specific; (vi) most factor loadings on antimeric tooth pairs could be constrained to be equal, indicating a symmetry of genetic and environmental influences between left and right sides; and (vii) estimated heritability of the incisor mesiodistal dimensions varied from 0.81 to 0.91.

Genetic and environmental influences on facial profile.

Observed variation in facial morphology results from the influences of both genetic and environmental factors. To investigate the role of genetic influences on variation in facial profile, lateral photographs of 23 male and 19 female monozygous (MZ), and 15 male and 22 female dizygous (DZ) twin pairs were selected from the records of the South Australian Twin Study. Soft tissue landmarks and facial profiles were identified, traced and digitized. Linear and angular measures defined by the landmarks were calculated and a series of Fourier functions derived to describe the facial profiles. These Fourier amplitudes were interpreted in terms of the specific regions which they represented. Correlations within MZ pairs were consistently higher than within DZ pairs for both the facial dimensions and the Fourier amplitudes, providing evidence of significant genetic contribution to facial convexity, facial height and facial depth. Variability in nose and lip morphology appeared to be under stronger environmental influence.

Fourier Analysis of Dental Arch Morphology in South Australian Twins.

Our aims were to assess the suitability of Fourier harmonics in describing dental arch form in South Australian twins and to estimate the contribution of genetic factors to observed variability. Dental casts of 37 monozygous (MZ) and 19 dizygous (DZ) twin pairs were selected, all subjects being male Caucasians with minimal dental crowding and no history of orthodontic treatment. There were no significant differences between the groups in any of the Fourier co-efficients. In the variance of differences between twins the constant value a0 and first amplitude had significant genetic variances at the level of 5% or less. The highest correlations within MZ pairs (r>0.72) were for a0, representing arch size, and for the first and second Fourier amplitudes (amp1 and amp2), representing the arch depth/arch breadth ratio and the relative taper of the arch respectively, in both the maxillary and mandibular arches. The results of this study confirm that the Fourier method provides an accurate, reproducible method for describing dental arch size and shape, and suggest that genetic factors contribute mainly to the variation in arch size and to arch depth/arch breadth ratio rather than to other aspects of dental arch morphology.

A revised estimate of twin concordance in systemic lupus erythematosus.

Based on a small clinical series and previously published case reports, concordance for systemic lupus erythematosus (SLE) among monozygous (MZ) twins has been reported to be as high as 69%. Using a larger and less biased sample, we provide another estimate of this percentage. We established a registry of twins with SLE, based upon self-reports and information provided by the patients' physicians. We used DNA fingerprinting to validate the reported zygosity in a sample of these twins. Of 107 twin pairs meeting the American College of Rheumatology 1982 revised criteria for the diagnosis of SLE, 24% of 45 MZ pairs and 2% of 62 dizygous (DZ) pairs were concordant. The frequency distributions of diagnostic criteria and disease symptoms in the SLE patients were similar to those in other published reports of SLE patients. Zygosity was confirmed by DNA fingerprinting in a subsample of 15 self-described MZ twins and 7 self-described DZ twins. All individuals had correctly predicted their zygosity. MZ concordance for SLE is similar to that for other autoimmune diseases and is much lower than previously believed.