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Biomedical subjects

T J Bouchard

Publications and source records attributed to T J Bouchard.

At least 19 recordsLinked to original sources

Emergenesis. Genetic traits that may not run in families.

Traits that are influenced by a configuration--rather than by a simple sum--of polymorphic genes may not be seen to be genetic unless one studies monozygotic twins (who share all their genes and thus all gene configurations) because such "emergenic" traits will tend not to run in families. Personal idiosyncrasies that have been found to be surprisingly concordant among MZ twins separated in infancy and reared apart may be emergenic traits. More speculatively, important human traits like leadership, genius in its many manifestations, being an effective therapist or parent, as well as certain psychopathological syndromes may also be emergenic. These ideas reemphasize the importance of the role played in human affairs by genetic variation.

Adult

A twin study of genetic variation in proportional radiographic alveolar bone height.

The purpose of this study was to estimate the genetic variance for alveolar bone height by means of the classic twin method and the study of monozygous twins reared apart. Panoramic radiographs were obtained from 120 pairs of adult twins (mean age = 40.4 years, S.D. = 10.4 years), for comparison of 62 pairs of monozygous twins reared together (MZT), 25 pairs of like-sexed dizygous twins reared together (DZT), and 33 pairs of monozygous twins reared apart (MZA). Mesial and distal bone heights were determined as a proportion of tooth length. A full-mouth bone score was computed for each twin by averaging these proportions from all measurable teeth. Between-pair (B) and within-pair (W) variances were computed for each twin group. The population variances (B + W) of the MZT and DZT twin groups were similar, which validated a basic assumption of the twin model. Intraclass correlations and heritability estimates were also computed for the reared-together and reared-apart twin groups. Boot-strap sampling was used to provide estimates and confidence limits for these values. The intraclass correlations for the twin groups were: MZT = 0.70, DZT = 0.52, and MZA = 0.55. The results of this study suggest that there is significant genetic variance in the population for proportional alveolar bone height.

Adolescent

Periodontal findings in adult twins.

Gingivitis and periodontitis are among the most common diseases known to man. Although bacterial plaque is generally accepted as the primary etiologic agent, little information is available concerning the influence that host genetic factors have on these diseases. The purpose of the present study was to examine the relative contribution of environmental and host genetic factors to clinical measures of periodontal disease through the study of both reared-together twins and monozygous twins reared apart. Probing depth, clinical attachment loss, gingivitis, and plaque were assessed from the Ramfjord teeth in 110 pairs of adult twins (mean age 40.3 years), including 63 monozygous and 33 dizygous twin pairs reared together and 14 monozygous twin pairs reared apart. Bootstrap sampling was used to estimate and provide confidence limits of between-pair and within-pair variances, intraclass correlations and heritability. Based on ratios of within-pair variances or heritability estimates, a significant (P less than 0.05) genetic component was identified for gingivitis, probing depth, attachment loss and plaque. Heritability estimates indicated that between 38% to 82% of the population variance for these periodontal measures of disease may be attributed to genetic factors. While there is general agreement that bacteria are important in the pathogenesis of the periodontal diseases, future etiologic studies should consider the role of host genetic influences.

Adolescent

Atopic disease and immunoglobulin E in twins reared apart and together.

Both genetic and environmental influences have been implicated in the etiology of atopic disease and in the determination of serum IgE levels. To quantify the relative contribution of these influences, we studied the prevalence of asthma and seasonal rhinitis, skin-test response, total serum IgE levels, and specific IgE, as measured by RAST, in a sample of MZ and DZ twins reared apart or together. Concordance rates for asthma, rhinitis, positive skin tests, and RAST were calculated. MZ twins, whether reared apart or together, showed a greater concordance than dizygotic twins reared apart or together. Maximum-likelihood tests of genetic and environmental components of the variation of total IgE levels revealed a substantial genetic component and a negligible contribution from common familial environmental effects.

Asthma

Sources of human psychological differences: the Minnesota Study of Twins Reared Apart.

Since 1979, a continuing study of monozygotic and dizygotic twins, separated in infancy and reared apart, has subjected more than 100 sets of reared-apart twins or triplets to a week of intensive psychological and physiological assessment. Like the prior, smaller studies of monozygotic twins reared apart, about 70% of the variance in IQ was found to be associated with genetic variation. On multiple measures of personality and temperament, occupational and leisure-time interests, and social attitudes, monozygotic twins reared apart are about as similar as are monozygotic twins reared together. These findings extend and support those from numerous other twin, family, and adoption studies. It is a plausible hypothesis that genetic differences affect psychological differences largely indirectly, by influencing the effective environment of the developing child. This evidence for the strong heritability of most psychological traits, sensibly construed, does not detract from the value or importance of parenting, education, and other propaedeutic interventions.

Adult

Heritability of substance abuse and antisocial behavior: a study of monozygotic twins reared apart.

Thirty-two sets of monozygotic twins reared apart since shortly after birth (31 pairs and one set of triplets; median age at separation was 0.2 years) were interviewed separately and blindly using the Diagnostic Interview Schedule for presence of DSM-III Axis I psychiatric disorders and antisocial personality. Because the sample was recruited from a nonclinical population, predictably few subjects met criteria for such disorders. However, items counting toward diagnoses were cumulated into four scores: alcohol-related problems, drug-related problems, childhood antisocial behavior, and adult antisocial behavior. The scores showed within-scale cohesion as measured by Cronbach's coefficient alpha. The drug scale and both antisocial scales showed significant heritability (p less than 0.1), but the alcohol scale had an estimated heritability of zero (albeit with a broad confidence interval). There appeared to be substantial commonalities in the genetic factors responsible for these traits.

Adolescent

Does contact lead to similarity or similarity to contact?

Evidence from the Finnish Twin Registry (e.g., Rose et al., 1988) shows that adult monozygotic (MZ) twins are more similar, within pairs, in personality if the cotwins are presently cohabiting or in frequent contact than if they are seldom in contact. Results of a follow-up study led Kaprio et al. (1990) to conclude that "changes in social contact between monozygotic cotwins precede (and causally contribute to) changes in their intrapair similarity" (p. 9). If true, this conclusion has important theoretical implications, e.g., many heritability estimates would have to be revised downward. We adduce evidence suggesting that similarity leads to contact, rather than the other way around. Low correlations between twins' frequency of contact and their absolute within-pair difference on all traits thus far studied indicates that, whichever the direction of causality, the relationship between MZ within-pair similarity and their frequency of contact is very weak.

Adult

Genetic and environmental influences on special mental abilities in a sample of twins reared apart.

The Minnesota Study of Twins Reared Apart has conducted comprehensive medical and psychological assessments of monozygotic (N = 49) and dizygotic (N = 25) twin pairs, separated early in life (average age of separation = 0.3 and 1.1 years, respectively) and reared apart during the formative years (average age of reunion = 30.3 and 37.2 years, respectively). The twins are administered two special mental ability batteries. The Hawaii Battery (H-B), supplemented by several Educational Testing Service tests, is administered toward the beginning of the assessment week. The Comprehensive Ability Battery (CAB) is administered toward the end of the assessment week. All data are age- and sex-corrected. The average MZA and DZA intraclass correlations for the 15 H-B subtests were 0.45 and 0.34, respectively, and the average MZA and DZA intraclass correlations for the 13 subtests of the CAB were 0.48 and 0.35, respectively. Biometric model-fitting of these data indicate an average heritability of about 0.50. Data for groups of subtests in the Verbal, Spatial, Perceptual Speed and Accuracy and Memory domains were compared to a meta-analysis of the special mental ability findings in the ordinary twin literature. The Spatial domain appears to yield the highest and the Memory domain the lowest heritabilities.

Biometry

The Minnesota Twin Family Registry: some initial findings.

A birth-record based Registry is nearing completion of some 8,000 pairs of twins born in Minnesota from 1936 to 1955, plus some 1,200 pairs of male twins born 1971-81. The middle-aged twins were recruited with graded incentives so that ease of recruitment could be measured; it was found that pairs concordant for ease of recruitment were no more similar than discordant pairs in education, socioeconomic status (SES), or a variety of personality and interest factors, ie, that selection bias may not be a problem in research with adult twins when contacts are only by mail. A 50% decrease in neonatal mortality from 1936-55 to 1971-81 was associated with an increase from 3.5 to 4.0 per thousand in the frequency of viable MZ twin births. The broad heritability of SES, educational attainment, fecundity, and risk for divorce ranges from 0.30 to 0.50, although all 4 variables are plainly multifactorial and the latter 2 both involve variance contributed by a second person. Investigators interested in making use of this research resource are invited to submit proposals.

Anthropometry

Personality similarity in twins reared apart and together.

We administered the Multidimensional Personality Questionnaire (MPQ) to 217 monozygotic and 114 dizygotic reared-together adult twin pairs and 44 monozygotic and 27 dizygotic reared-apart adult twin pairs. A four-parameter biometric model (incorporating genetic, additive versus nonadditive, shared family-environment, and unshared environment components) and five reduced models were fitted through maximum-likelihood techniques to data obtained with the 11 primary MPQ scales and its 3 higher order scales. Solely environmental models did not fit any of the scales. Although the other reduced models, including the simple additive model, did fit many of the scales, only the full model provided a satisfactory fit for all scales. Heritabilities estimated by the full model ranged from .39 to .58. Consistent with previous reports, but contrary to widely held beliefs, the overall contribution of a common family-environment component was small and negligible for all but 2 of the 14 personality measures. Evidence of significant nonadditive genetic effects, possibly emergenic (epistatic) in nature, was obtained for 3 of the measures.

Adult

Homosexuality in monozygotic twins reared apart.

We describe six pairs of monozygotic twins, in which at least one member of five pairs were homosexual, and one of the remaining pair was bisexual, from a series of 55 pairs, reared apart from infancy; all the female pairs were discordant for homosexual behaviour. This and other evidence suggest that female homosexuality may be an acquired trait. One male pair was concordant for homosexuality, while the other was not clearly concordant or discordant; this suggests that male homosexuality may be associated with a complex interaction, in which genes play some part.

Adult

Genetic regulation of immunoglobulin and specific antibody levels in twins reared apart.

We studied the effect of the same genetic but different environmental factors on total immunoglobulin and specific antibody levels in twins reared apart. Sera were analyzed from 26 monozygotic (MZ) and 10 dizygotic (DZ) twin pairs, who were separated on average 2 mo after birth and reared apart. Total IgM, IgG, and IgA were measured by single radial diffusion. Specific antibodies of each isotype to tetanus toxoid, and to polyvalent and type 14 pneumococcal capsular polysaccharides were measured by a solid-phase antigen-enzyme-labeled anti-Ig immunoassay. One-way analysis of variance showed intrapair total Ig and antibody levels to be more highly correlated in MZ compared with DZ twins. Our results indicate that genetic factors are more important than environment in regulating these humoral immune responses.

Adult

Eye findings in twins reared apart.

Twenty-six pairs of reared apart twins were evaluated ophthalmologically. Included were 18 monozygotic pairs and eight same sex dizygotic pairs. A high concordance of C/D ratios and esotropia was evident. Though reared apart, three pairs of esotropic MZ twins had almost simultaneous onsets of diagnosis and treatment for their strabismus. Genetic influence on the development of refractive errors was evident by the greater similarity of the refractions in MZ twins when compared to DZ twins.

Adult