Attempts to develop an efficient speech test in fully modulated noise

We have estimated how much of the total genetic predisposition to SLE may be attributable to genes outside the HLA region by comparing figures for concordance of SLE in monozygotic twins with those for concordance in HLA identical siblings in Australia. None of six dizygotic co-twins of white Australian SLE probands was concordant for SLE. One of four (25%) monozygotic co-twins of white Australian SLE probands was concordant for SLE which when added to previously published figures for Caucasoid populations gives an overall concordance rate for SLE in monozygotic twins of 25%. None of 18 HLA identical, same sex siblings of SLE probands, had definite SLE by the study criteria (i.e. less than 6%). The comparison of these figures shows that most of the genetic predisposition to SLE is attributable to genes outside the HLA region.     

Sexual victimization in adolescent girls (age 15-20 years) enrolled in post-mandatory schools or professional training programmes in Switzerland

We investigated 21 pairs of twins for zygosity and idiopathic scoliosis. DNA fingerprinting confirmed that 13 pairs were monozygotic and eight were dizygotic. There was concordance for idiopathic scoliosis in 92.3% of monozygotic and 62.5% of dizygotic twins. Of the 12 pairs of monozygotic twins concordant for idiopathic scoliosis, six showed discordant curve patterns but eight had differences in Cobb angle of less than 10 degrees. Seven of the ten pairs of monozygotic twins had similar back shapes. Our findings suggest that there is a genetic factor in the aetiology of idiopathic scoliosis; they also indicate that there is a genetic factor in both the severity of the curve and the general shape of the back.     

Familial resemblance in infant mental development.

Compared the scores on a scale of mental development (N. Bayley) of 151 sets of 8-mo-old twins and 2,481 other sibling pairs in the Collaborative Perinatal Project. Intraclass correlation coefficients between scores of twins were high (.84, monozygotic; .55, dizygotic), suggesting a substantial genetic influence; however, the average correlation between scores of other siblings was only .22. The discrepancy between the values for dizygotic twins and other sibling pairs may have resulted from the twins' greater environmental similarity. The high heritability estimate derived from the difference between monozygotic and dizygotic correlations was due to the higher concordance for severe retardation in monozygotic pairs. It is noted that since infant twins are a unique sample in terms of retardation frequency as well as birth weight and gestational age, it may be inappropriate to generalize infant twin study results to singleton populations. (15 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Immunoaffinity analysis of cross-reacting allergens by protein blotting

IgE antibodies from sera having reactivity against ryegrass pollen protein allergens, wheat endosperm protein allergens and also several other cereal protein allergens were adsorbed with either ryegrass pollen or the wheat/globulin fraction immobilised on solid phases and subsequently eluted with low pH buffer. The eluted antibodies were reacted with sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) blots of the different allergens. Antibodies adsorbed and subsequently eluted from the two allergen sources recognised different spectra of proteins in the ryegrass pollen and cereal allergen sources and indicated the degree of immunological cross-reactivity. Intra-species cross-reactivity of IgE antibodies was demonstrated employing similar methods to those used for the pollen and cereal allergens by using a recombinant allergen from the venom of the ant Myrmecia pilosula as the immunoadsorbent protein on the solid phase.     

Genetic influence on serum igd levels

In order to better understand the factors determining serum levels of IgD, total serum IgD and IgE were studied in 23 nonallergic twin pairs, consisting of 16 monozygotic (Mz and 7 same-sex dizygotic (Dz) pairs. Both immunoglobulins were measured by a paper disc solid phase radioimmunoassay, sensitive to 1 microgram/dl of IgD and 1 I.U./ml of IgE. Also studied were 10 paired sera taken at different times from 10 healthy subjects of similar mean age to the twins and 21 randomly paired sera from unrelated subjects. The intrapair variance of both serum IgD and serum IgE levels were significantly less in Mz than in Dz twins (P less than 0.05). Thus, there appears to be a genetic influence over serum IgD levels, probably to a similar degree to that previously shown to exist for serum IgE levels. Heritability was calculated to be 0.759 for IgD and 0.697 for IgE. Also, the intraclass correlation coefficient (rI) for IgD in monozygotic twin pairs was 0.9370 (P less than 0.001) and for IgE was 0.8602 (P less than 0.001). It appears likely that the number of genetic loci controlling serum IgD levels is similar to, or less than, the number controlling serum IgE levels because the random pair/Dz pair variance ratio was lower for IgD than for IgE.     

Alopecia areata and cytomegalovirus infection in twins: genes versus environment?

BACKGROUND: Alopecia areata (AA) is hypothesized to be an organ-specific autoimmune disease mediated by T cells directed to the hair follicle. Genetic susceptibility may be conferred by HLA, and an environmental trigger, such as a viral infection, is suspected. The incidence of AA in the population is estimated to be 1.7%, with an average of one in four patients having a positive family history. OBJECTIVE: Our purpose was to examine the concordance rate of AA among identical versus fraternal twins and the correlation between stress, cytomegalovirus (CMV) infection, and disease. METHODS: Families with AA were solicited from dermatologists in the United States and through a Website on the Internet. HLA class 2 typing and identification of CMV early and late genes were performed by polymerase chain reaction (PCR) on genomic peripheral blood DNA. Serum antibodies for CMV were determined by enzyme-linked immunosorbent assay. RESULTS: From 114 families, we identified 11 sets of monozygotic twins and 3 sets of dizygotic twins. The concordance rate was 55% for monozygotic twins and 0% for fraternal twins. Most identical twins were male. The severity of the AA phenotype varied and appeared most severe in the first affected twin. Five of 24 twins were CMV seropositive but CMV DNA was not detected in blood lymphocytes of any of the subjects when studied after the onset of AA. The presence of AA in twins was not correlated with evidence of CMV. CONCLUSION: A 55% concordance rate in identical twins and AA occurring in families support a genetic component as well as possible environmental triggers that remain unknown.     

Circulating androgen and estrogen concentrations in lizards (Iguana iguana)

Bilateral tooth measurements in twins are partitioned into three orthogonal contrasts, each associated with one degree of freedom, to estimate three parameters: discordance, asymmetry, and mirror imagery. The probability levels of the within-pair variance ratios were used to test for significance of these estimates. The results provided strong evidences for the existence of significant genetic determinants of almost all of the individual tooth dimensions, but little or no evidence for a genetic basis of asymmetry. The analysis gave no indication that monozygotic twinning was associated with an increased degree of either fluctuating asymmetry or mirror imagery, when compared to dizygotic twins. The data on monozygotic twins further suggested that for most variables examined, the increment of environmental discordance resulting from the twinning phenomena was greater than the developmental noise that caused asymmetry within individual cotwins.     

Genetic correlates and sex differences in Holtzman Inkblot Technique responses of twins

Holtzman Inkblot Technique (HIT) responses of 36 monozygotic (MZ), 18 dizygotic same-sex (DZ-S) and 29 dizygotic opposite-sex (DZ-O) college student twin pairs were analyzed. MZ group twins were significantly more alike across a variety of HIT response dimensions than DZ-S or DZ-O group twins. The following variables indicated a possible significant genetic contribution to response determination: Movement, Abstract Content, Hostility, Pathognomic Verbalization and Popular Responses. DZ-O groups data (representing a high degree of control for environmental influences) indicated significant sex differences on the following variables: M less than F -- Rejection, Form Appropriateness, Anatomical Content, and Balance; F less than M -- Human Content and Popular. The results are discussed in terms of (a) comparable genetic determination studies with Rorschach responses and (b) the necessity for separate male and female norms on several HIT scored response scales.     

Extrathymic and thymic origin of murine IEL: are most IEL in euthymic mice derived from the thymus?

Given the current explosion of knowledge of the genetics and molecular biology of cancer, the possibility of widespread testing for inherited predisposition to cancer has been raised. The main objective of this study was to assess the effect of inherited predisposition on cancer mortality among the National Academy of Sciences-National Research Council Twin Registry. The twins were white male United States veterans of World War II, who were born during the period 1917-1927. The follow-up period was from 1946 to 1990, and some cause of death was determined with the use of death certificates. We compared concordance for death from cancer among 5690 monozygotic twin pairs to that among 7248 dizygotic pairs. A possible effect of inherited predisposition to death from cancer was considered present if concordance for cancer mortality among monozygotic twin pairs was greater than it was among dizygotic twin pairs. Among monozygotic and dizygotic twins, a total of 1918 cancer deaths was observed. Concordance for death from cancer at all sites among monozygotic twins was higher than it was among dizygotic twins (overall rate ratio, 1.4; 95% confidence interval, 1.0-2.0). For each zygosity group, two or fewer pairs were observed to be concordant for death from cancer of a specific site, with the exception of lung cancer.(ABSTRACT TRUNCATED AT 250 WORDS)     

Modification of pentasaccharide core of surface N-glycans during differentiation of HL-60 cells

Graves' disease (GD) is generally thought of as a multifactorial disorder in which genetic susceptibility interacts with environmental and endogenous factors to cause disease. The importance of genetic factors is suggested by the clustering of GD within families and by a higher concordance rate for disease in monozygotic than dizygotic twins. This has, however, recently been shown to be less pronounced than previously thought. During the last decade, much effort has been put into characterization of the genetic background of GD. Until recently most studies have examined associations between GD and the human leukocyte antigen (HLA) region, but recent advances in molecular techniques have opened the way for whole-genome screening. A number of HLA and non-HLA candidate genes have been proposed, but despite several large investigations within multiplex families no major susceptibility genes have been identified. This brief review discusses relevant articles published from 1940 through 1997 regarding the influence of genetic factors in the etiology of GD. Ongoing studies will focus on whole genome screening in multiplex families as well as population based twin studies. However, the possibility of GD being a heterogeneous disease without a single well-defined genotype and phenotype should be left open.     

The heritability of attitudes: A study of twins.

The genetic basis of individual differences in attitudes was examined in a survey of 195 pairs of monozygotic twins and 141 pairs of same-sex dizygotic twins. A principal components analysis of the 30 attitude items in the survey identified 9 attitude factors, of which 6 yielded significant heritability coefficients. Nonshared environmental factors accounted for the most variance in the attitude factors. Possible mediators of attitude heritability were also assessed, including personality traits, physical characteristics, and academic achievement. Analyses showed that several of these possible mediators correlated at a genetic level with the heritable attitude factors, suggesting that the heritability of the mediator variables might account for part of the heritable components of some attitudes. There was also some evidence that highly heritable attitudes were psychologically "stronger" than less heritable attitudes. (PsycINFO Database Record (c) 2011 APA, all rights reserved)     

Laparoscopic management of adnexal masses in premenopausal and postmenopausal women

OBJECTIVE: Caffeine is by far the most commonly consumed psychoactive substance. The use and abuse of most other licit and illicit psychoactive drugs have been shown to be substantially heritable. However, the impact of genetic factors on caffeine consumption, heavy use, intoxication, tolerance, and withdrawal is largely unknown. METHOD: Caffeine consumption, in the form of brewed coffee, instant coffee, tea, and caffeinated soft drinks, as well as caffeine intoxication, tolerance, and withdrawal, were assessed by personal interviews of 1,934 individual twins from female-female pairs ascertained from the population-based Virginia Twin Registry. The sample included both members of 486 monozygotic and 335 dizygotic pairs. Twin resemblance was assessed by probandwise concordance, odds ratios, and tetrachoric correlations. Biometrical model fitting was also performed. RESULTS: The resemblance in twin pairs for total caffeine consumption, heavy caffeine use, caffeine intoxication, caffeine tolerance, and caffeine withdrawal was substantially greater in monozygotic than in dizygotic twin pairs. Model fitting suggested that twin resemblance for these measures could be ascribed solely to genetic factors, with estimated broad heritabilities of between 35% and 77%. CONCLUSIONS: Caffeine is an addictive psychoactive substance. Similar to previous findings with other licit and illicit psychoactive drugs, individual differences in caffeine use, intoxication, tolerance, and withdrawal are substantially influenced by genetic factors.     

Neuroticism, extraversion, and related traits in adult twins reared apart and reared together.

The relative importance of genetic and environmental factors for neuroticism, extraversion, and impulsivity, and monotony avoidance were estimated in a sample of 99 monozygotic and 229 dizygotic pairs of twins reared apart (TRA) and a matched sample of 160 monozygotic and 212 dizygotic pairs of twins reared together (TRT). The average age was 58.6 (SD?=?13.6); 72% of the twins were 50 or older. Model-fitting analyses verified the importance of genetic factors for all four measures; from 23% to 45% of the total variation was attributable to genetic sources. There was considerable evidence that these factors were operating in a nonadditive manner for extraversion and impulsivity. Shared environment accounted for less than 10% of the variance, some evidence for selective placement was found for neuroticism. (PsycINFO Database Record (c) 2011 APA, all rights reserved)     

The genetic susceptibility to Graves' disease

Graves' disease (GD) develops as a result of a complex interaction between genetic susceptibility genes and likely environmental factors. Most epidemiological data support an important genetic contribution to the development of GD. The concordance rate of GD in monozygotic twins is 30-60% and in dizygotic twins 3-9%, and thyroid autoantibodies have been reported in up to 50% of the siblings of patients with GD. For many years now, HLA studies have consistently shown an increased frequency of HLA-DR3 in Caucasian patients with GD; but with only a risk ratio of 3-5. However, recent advances in human genome mapping techniques have enabled the study of many other candidate genes. Of these additional, non-HLA genes, only CTLA-4 has been consistently found to be associated with GD. Using a linkage based approach which only detects highly significant susceptibility genes we have recently reported preliminary results which demonstrated that a marker located approximately 25 cM from the TSH receptor gene on chromosome 14q31 is linked to GD and in the same vicinity as the IDDM-11 locus. Such results, if confirmed, may signal the presence of a gene family related to endocrine autoimmunity on chromosome 14q31.     

Allergenic relationship among four common and dominant airborne palm pollen grains from Eastern India

BACKGROUND: Palm pollen grains are predominant aeroallergens in the tropics including India. Evidence of allergenic crossreactivity had been reported from various parts of the world on different families, e.g. Poaceae, Asteraceae, etc. No such information is available about the palm pollen of tropical countries. OBJECTIVES: The present study was undertaken to find out the allergenic relationship, if any, in four common and important palm pollen in India. METHODS: A 2-year aerobiological survey was carried out at Madhyamgram situated at the suburban fringe of Calcutta Metropolis using Burkard volumetric sampler to know the seasonal variation of Areca catechu, Borassus flabellifer, Cocos nucifera and Phoenix sylvestris among others. Skin-prick tests (SPT) were performed with the relevant pollen extracts on the respiratory allergic patients. Sera from the subjects were tested directly by ELISA for estimating the allergen specific IgE. ELISA inhibitions and dot blotting were performed with pooled patients sera and four palm pollen extracts to detect the cross-reactivity. RESULTS: Among 70 patients, Areca catechu exhibited the maximum percentage (48.5%) of positive responses followed by Cocos nucifera (45.7%), Phoenix sylvestris (42.85%) and Borassus flabellifer (38.5%). On an average, 30-50% of the patients showed positive skin reactions and enhanced specific IgE level to more than one palm pollen extract. Further evidence of allergenic crossreactivity among the four palm pollen grains were provided by dot blotting and ELISA inhibition studies. In ELISA inhibition, a distinct inhibition was obtained with comparable amounts of the pollen extracts. CONCLUSION: The suburban aerobiological survey of Calcutta and SPT results confirmed that the relevant pollen types are significant contributors of aeroallergen load of the study area. ELISA inhibition studies with the pooled patients sera using antihuman IgE probe revealed the presence of shared allergenic components among the four palm pollen grains.     

Tetracaine-lidocaine-phenylephrine topical anesthesia compared with lidocaine infiltration during repair of mucous membrane lacerations in children

When a rigorous methodological approach is utilized, a substantial majority of recent studies provide evidence for the familial transmission of schizophrenia. Although the absolute rates of schizophrenia among relatives of schizophrenics tend to be lower than those reported in the earlier studies due to the restrictiveness of contemporary definitions of schizophrenia, the risk to relatives compared to that of controls has remained quite consistent. This observation that relatives of schizophrenics have an elevated risk for schizophrenia compared to controls is consistent with theories of both genetic and environmental transmission. Twin studies of schizophrenia have consistently reported greater concordance rates for monozygotic than dizygotic twins. Although this indicates the importance of genetic factors, the less than 100% concordance for monozygotic twins observed in every study indicates that nongenetic factors also play a role in the etiology of schizophrenia. Further, adoption studies offer an opportunity to unconfound genes and environment. The findings of adoption studies confirm that there are genetic components for schizophrenia. Even though we have shown that family, twin, and adoption studies have provided strong evidence for the role of genetic factors in schizophrenia, the mode of transmission remains unclear. The results of mathematical modeling studies do not support the single gene model. There is somewhat more support for the multifactorial polygenic model, but the model has also been rejected in several studies. Thus, the pattern of inheritance of schizophrenia has eluded an unambiguous characterization. Genetic linkage analysis promised to clarify the mechanisms of transmission, but early positive reports were subsequently overturned and, to date, there are no consistently replicated positive linkage findings for schizophrenia. There is now a world-wide search for the location of the genes on specific chromosomes which are responsible for schizophrenia. The clinical implications of current work to the future of locating a schizophrenic gene or genes will be discussed.     

The application of structural equation modeling to maternal ratings of twins' behavioral and emotional problems.

The application of structural equation modeling to twin data is used to assess the impact of genetic and environmental factors on children's behavioral and emotional functioning. The models are applied to the maternal ratings of behavior of a subsample of 515 monozygotic and 749 dizygotic juvenile twin pairs, ages 8 through 16 yrs, obtained through mailed questionnaires as part of the Medical College of Virginia Adolescent Behavioral Development Twin Project. The importance of genetic, shared, and specific environmental factors for explaining variation is reported for both externalizing and internalizing behaviors, as well as significant differences in the causes of variation in externalizing behaviors among young boys and girls. The usefulness of applying structural equation models to data on monozygotic and dizygotic twins and the potential implications for addressing clinically relevant questions regarding the causes of psychopathology are discussed. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

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.     

Genetics, the Big Five, and the tendency to be self-employed.

We applied multivariate genetics techniques to a sample of 3,412 monozygotic and dizygotic twins from the United Kingdom and 1,300 monozygotic and dizygotic twins from the United States to examine whether genetic factors account for part of the covariance between the Big Five personality characteristics and the tendency to be an entrepreneur. We found that common genes influenced the phenotypic correlations between only Extraversion and Openness to Experience and the tendency to be an entrepreneur. Although the phenotypic correlations between the personality characteristics and the tendency to be an entrepreneur were small in size, genetic factors accounted for most of them. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Bioethics and the Council of Europe

1. The power of the aerobic metabolic pathway correlates well with successful physical performance in endurance sports events. The ability to alter the pathway through training presents well-known limitations, and consequently a good genetic endowment is essential to participate in elite sporting activities. 2. In 32 subjects (16 healthy pairs of male twin sportsmen, 8 monozygotic and 8 dizygotic) zygosity was determined by means of the genetic analysis of human leucocyte antigen (HLA) system specificities at class I and II loci and other genetic variants. The subjects performed a progressive exercise test on a treadmill to ascertain the maximal oxygen uptake (VO2max), measured by an automatic breath-by-breath analyser. We have considered the relationship between the A, B and C loci of the HLA system and VO2max. 3. We found a high correlation between the presence of both HLA A2 and A11 and VO2max. In the A2A11 group (n = 6) we found a VO2max (mean +/- SD) equal to 71 +/- 4 ml min-1 kg-1. The group without this pair of alleles (n = 26) showed a much lower aerobic power (58 +/- 5 ml min-1 kg-1). Differences between the two groups were found to be largely significant (P < 0.001). It is noteworthy that in two pairs of dizygotic twins, the higher VO2max value corresponded to the twin with the A2A11 allele. 4. The very marked concordance between the presence of the A2A11 locus of the HLA system and the VO2max could be of great interest for the identification of outstanding performers.