The Serum Ig Level in Human Twins

1970 ◽  
Vol 19 (1-2) ◽  
pp. 238-238 ◽  
Author(s):  
A.O. Carbonara ◽  
R. Ceppellini ◽  
W. Yount ◽  
S. Landucci
Keyword(s):  
Environmental Factors ◽  
Quantitative Evaluation ◽  
Genetic Factors ◽  
Serum Levels ◽  
Radial Diffusion ◽  
Lower Degree ◽  
Ratio Of Variances ◽  
Direct Data ◽  
Low Levels ◽  
Mz Twins

The serum levels in different subjects of the classes and subclasses of Ig are considerably variable. The influence of the environmental factors on Ig concentration is well documented; however, direct data on the influence of genetic factors are lacking.To this aim, the Ig serum levels were determined in 45 pairs of MZ and 30 pairs of DZ twins. The quantitative evaluation concerned the different classes (IgG, IgA, IgM), subclasses (γG1, γG2, γG3, γG4) and types (k and λ), and was performed by the method of single radial diffusion.The F ratio of variances between and within pairs is highly significant (0.001) for MZ twins, which are clearly concordant for high or low levels of all molecular classes. The comparison between and within pairs is also significant for DZ twins, albeit to a lower degree. Actually for H chains, the concordance is significantly higher for MZ than DZ. On the contrary, both kinds of twins are equally concordant for L chain levels.

Genetic and Environmental Contributions to Humor Styles: A Replication Study

2008 ◽  
Vol 11 (1) ◽  
pp. 44-47 ◽  
Author(s):  
Philip A. Vernon ◽  
Rod A. Martin ◽  
Julie Aitken Schermer ◽  
Lynn F. Cherkas ◽  
Tim D. Spector
Keyword(s):  
Individual Differences ◽  
North America ◽  
Environmental Factors ◽  
Genetic Factors ◽  
Genetic Model ◽  
Model Fitting ◽  
Humor Styles ◽  
Same Sex ◽  
The United Kingdom ◽  
Mz Twins

AbstractOne thousand and seventy three pairs of adult monozygotic (MZ) twins and 895 pairs of same sex adult dizygotic (DZ) twins from the United Kingdom (UK) completed the Humor Styles Questionnaire: a 32-item measure which assesses two positive and two negative styles of humor. MZ correlations were approximately twice as large as DZ correlations for all four humor styles, and univariate behavioral genetic model fitting indicated that individual differences in all of them can be accounted for entirely by genetic and nonshared environmental factors, with heritabilities ranging from .34 to .49. These results, while perhaps not surprising, are somewhat at odds with a previous study that we conducted in North America (Vernon et al., in press) in which genetic factors contributed significantly to individual differences in the two positive humor styles, but contributed far less to the two negative styles, variance in which was instead largely due to shared and nonshared environmental factors. We suggest that differences between North American and UK citizens in their appreciation of different kinds of humor may be responsible for the different results obtained in these two studies.

scholarly journals Iatrogenic Influences on the Heritability of Childhood Tonsillectomy: Cohort Differences in Twin Concordance

1991 ◽  
Vol 40 (2) ◽  
pp. 165-172 ◽  
Author(s):  
N.G. Martin ◽  
U. Kehren ◽  
D. Battistutta ◽  
J.D. Mathews
Keyword(s):  
Environmental Factors ◽  
Genetic Factors ◽  
Equal Size ◽  
Shared Environment ◽  
Birth Cohorts ◽  
Cohort Differences ◽  
The 1950S ◽  
Adult Twins ◽  
Mz Twins

AbstractIn 1980-82, a mailed questionnaire was completed by 3,810 pairs of adult twins enrolled on the Australian NH&MRC Twin Register. Twins were asked whether they had had their tonsils out and, if so, at what age. The sample was divided into four birth cohorts of approximately equal size, and only childhood tonsillectomy (to the age of 18) was considered. The prevalence of tonsillectomy differed markedly between cohorts, being highest in those born in the 1940s and early 1950s. Within each cohort, the prevalence was very similar in MZ and DZ twins, yet concordance was much higher in MZ twins, indicating the importance of genetic factors in predisposition to tonsillectomy. However, the proportions of variance in liability due to genetic and shared environmental factors differed markedly between cohorts. In the 1950s, when tonsillectomy was fashionable, shared environment accounted for 60% of variance and genetic factors for only 29%. However, by the early 1960s, when tonsillectomy was going out of fashion, heritability was up to 0.82 and shared environment accounted for only 10% of variance. Our results illustrate, once again, that heritability is not a constant, but depends on the precise characteristics of the population and the time at which it is studied.

Recovery of thyroid function with a decreased titre of antimicrosomal antibody in a hypothyroid man with Hashimoto's thyroiditis

1983 ◽  
Vol 102 (4) ◽  
pp. 531-534 ◽  
Author(s):  
Makiko Yamamoto ◽  
Kazuro Kaise ◽  
Hirofumi Kitaoka ◽  
Katsumi Yoshida ◽  
Nobuko Kaise ◽  
...  
Keyword(s):  
Hashimoto’S Thyroiditis ◽  
Serum Levels ◽  
Hashimoto's Thyroiditis ◽  
Thyroid Peroxidase ◽  
Normal Range ◽  
Surgical Biopsy ◽  
Low Levels ◽  
Serum Thyroid Hormones ◽  
Antimicrosomal Antibody ◽  
Serum Tsh

Abstract. A 36 year old man with a diffuse goitre, signs of mild hypothyroidism, strikingly low levels of T4 (0.9 μg/dl) and T3 (24 ng/dl), elevated TSH (140 μU/ml) and elevated microsomal haemagglutination antibody (MCHA, 1:409 600), subsequently became non-goitrous and euthyroid with a decreased titre of antimicrosomal antibody without any medication. At the time of surgical biopsy, serum levels of T4 and T3 had risen to the normal range (4.6 μg/dl and 73 ng/dl, respectively), serum TSH had decreased to 30 μU/ml and the titre of MCHA to 1:25 600. Thyroid specimens showed Hashimoto's thyroiditis. The activity of thyroid peroxidase (TPO) was normal. The latest examination, 1 year and 3 months after initial evaluation, showed that the patient remained euthyroid with no goitre, that serum thyroid hormones were within the normal range (T4 7.7 μg/dl and T3 97 ng/dl), and that TSH was not detectable. The titre of MCHA decreased strikingly to 1:400.

scholarly journals Polygenic risk score and risk of monoclonal B-cell lymphocytosis in caucasians and risk of chronic lymphocytic leukemia (CLL) in African Americans

Leukemia ◽  
2021 ◽  
Author(s):  
Geffen Kleinstern ◽  
J. Brice Weinberg ◽  
Sameer A. Parikh ◽  
Esteban Braggio ◽  
Sara J. Achenbach ◽  
...  
Keyword(s):  
Environmental Factors ◽  
B Cell ◽  
Risk Score ◽  
Genetic Factors ◽  
Strong Predictor ◽  
Lymphocytic Leukemia ◽  
European Ancestry ◽  
Polygenic Risk Score ◽  
Polygenic Risk ◽  
C Statistic

AbstractMonoclonal B-cell lymphocytosis (MBL) is a precursor to CLL. Other than age, sex, and CLL family-history, little is known about factors associated with MBL risk. A polygenic-risk-score (PRS) of 41 CLL-susceptibility variants has been found to be associated with CLL risk among individuals of European-ancestry(EA). Here, we evaluate these variants, the PRS, and environmental factors for MBL risk. We also evaluate these variants and the CLL-PRS among African-American (AA) and EA-CLL cases and controls. Our study included 560 EA MBLs, 869 CLLs (696 EA/173 AA), and 2866 controls (2631 EA/235 AA). We used logistic regression, adjusting for age and sex, to estimate odds ratios (OR) and 95% confidence intervals within each race. We found significant associations with MBL risk among 21 of 41 variants and with the CLL-PRS (OR = 1.86, P = 1.9 × 10−29, c-statistic = 0.72). Little evidence of any association between MBL risk and environmental factors was observed. We observed significant associations of the CLL-PRS with EA-CLL risk (OR = 2.53, P = 4.0 × 10−63, c-statistic = 0.77) and AA-CLL risk (OR = 1.76, P = 5.1 × 10−5, c-statistic = 0.62). Inherited genetic factors and not environmental are associated with MBL risk. In particular, the CLL-PRS is a strong predictor for both risk of MBL and EA-CLL, but less so for AA-CLL supporting the need for further work in this population.

scholarly journals POS0329 GASTROINTESTINAL INVOLVEMENT IN SYSTEMIC SCLEROSIS: PATHOGENETIC ROLE OF GUT MICROBIOME, CYTOKINES AND ADIPOKINES

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 392.1-392
Author(s):  
E. Pigatto ◽  
M. Schiesaro ◽  
M. Caputo ◽  
M. Beggio ◽  
P. Galozzi ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Gut Microbiome ◽  
Serum Levels ◽  
High Serum ◽  
Healthy Population ◽  
Gastrointestinal Involvement ◽  
Degrading Bacteria ◽  
Gi Symptoms ◽  
Low Levels ◽  
The Impact

Background:Gastrointestinal (GI) involvement is very common in patients with Systemic Sclerosis (SSc). The pathophysiology of GI manifestations has not yet been defined. Cell-mediated immunological reactions appear to lead to endothelial damage resulting in fibrosis. The risk of developing malnutrition reinforces the need to better understand GI pathophysiology in these patients.Objectives:The study aimed to evaluate GI symptoms (GIT 2.0) and malnutrition status (MUST) and to determine specific bacterial changes in gut microbiome by investigating the possible presence of positive hot spots in bacterial species in SSc patients and their potential role in the disease progression. We also evaluated serum levels of adipokines and cytokines involved in the pathogenesis of SSc and their role, in addition to gut microbiome, in predicting the onset of GI involvement and malnutrition in SSc patients.Methods:We enrolled 25 scleroderma patients (EULAR/ACR 2013 criteria). UCLA-SCTC GIT 2.0 questionnaire to evaluate GI symptoms and MUST to investigate the risk of malnutrition were used. Gut microbiome was analyzed and the samples were subjected to extraction for the 16S rRNA gene (Earth Microbiome Project and the NIH-Human Microbiome Project). The microbiome was investigated at phenotypic and genotypic level. Serum levels of cytokines and adipokines (adiponectin and leptin) were evaluated by ELISA.Results:79.9% of patients had GERD and 63.5% abdominal distension at GIT 2.0 questionnaires. 48% of patients had moderate risk of malnutrition (MUST=2) and 12% had high risk (MUST=3). Gut microbioma: 19 patients (76%) had low similarity and 11 (44%) low diversity compared to the healthy population. The prevailing enterotypes of gut microbiome was Bacteroides (80%) and Prevotella (20%). The genotypic evaluation showed a reduced concentration of: gluten-digesting (Lactobacillus); lactose-digesting (Faecalibacterium); vitamin K-producing (Enterococcus, Desulfovibrio and Veillonella); acetaldehyde-degrading bacteria. 24 patients (96%) showed a reduction in bacteria devoted to maintaining weight control (Bifidobacterium and Ruminococcus). The patients had an altered intestinal permeability with less mucolytic bacteria (Bacteroides) and reduced production of LPS (Enterobacter and Escherichia). Low levels of butyrate (Eubacterium and Clostridium), acetate and propionate were found for SCFA-producing bacteria. Potentially pathogenic bacteria were also investigated: Salmonella was found in 14 (56%), Klebsiella in 9 (36%) and Enterococcus Faecalis in 3 (12%) patients. 11 (44%) patients had elevated serum levels of IL10 and IL12; 4 (16%) had high value of leptin. Correlation was found in patients who had a reduced concentration of gluten-digesting bacteria and MUST. Elevated MUST was correlated with serological increase in IL17A and IFN-α. Serum levels of IL12 and IL10 were found to correlate with specific bacteria alterations: high concentration of acetaldehyde-producing bacteria and low levels of acetaldehyde-degrade bacteria (also correlated with high serum levels of IL6), mucolytic bacteria and producers of hydrogen sulphide, acetate and propionate. Finally, reduced levels of mucolytic bacteria and acetate producing bacteria correlated with high serum leptin levels.Conclusion:The relationship between the gut microbiome and SSc seems to be multifactorial. In our study genotypic changes of gut microbioma might play a role in damaging the permeability of the mucosa and increasing risk of malnutrition. The evaluation of gut microbiome and cytokine profile is probably going to be of value in the follow-up of SSc. However, further studies are needed to clarify the impact of GI dysbiosis on the immune system in SSc.References:[1]Patrone V. et al. Gut microbiota profile in systemic sclerosis patients with and without clinical evidence of gastrointestinal involvement, Sci Rep. 2017; 7: 14874Disclosure of Interests:None declared

scholarly journals Decreased heritability and emergence of novel genetic effects on pulse wave velocity from youth to young adulthood

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Yisong Huang ◽  
Shaoyong Su ◽  
Harold Snieder ◽  
Frank Treiber ◽  
Gaston Kapuku ◽  
...  
Keyword(s):  
Environmental Factors ◽  
Pulse Wave Velocity ◽  
Wave Velocity ◽  
Young Adulthood ◽  
Ethnic Differences ◽  
Genetic Factors ◽  
Pulse Wave ◽  
Environmental Influences ◽  
Genetic Effects ◽  
Over Time

AbstractIncreased arterial stiffness measured by pulse wave velocity (PWV) is an important parameter in the assessment of cardiovascular risk. Our previous longitudinal study has demonstrated that carotid-distal PWV showed reasonable stability throughout youth and young adulthood. This stability might be driven by genetic factors that are expressed consistently over time. We aimed to illustrate the relative contributions of genetic and environmental factors to the stability of carotid-distal PWV from youth to young adulthood. We also examined potential ethnic differences. For this purpose, carotid-distal PWV was measured twice in 497 European American (EA) and African American (AA) twins, with an average interval time of 3 years. Twin modelling on PWV showed that heritability decreased over time (62–35%), with the nonshared environmental influences becoming larger. There was no correlation between the nonshared environmental factors on PWV measured at visit 1 and visit 2, with the phenotypic tracking correlation (r = 0.32) completely explained by shared genetic factors over time. Novel genetic influences were identified accounting for a significant part of the variance (19%) at the second measurement occasion. There was no evidence for ethnic differences. In summary, novel genetic effects appear during development into young adulthood and account for a considerable part of the variation in PWV. Environmental influences become larger with age for PWV.

scholarly journals Low Serum Alpha-1 Antitrypsin (AAT) in Family Members of Individuals with Autism Correlates with PiMZ Genotype

2009 ◽  
Vol 4 ◽  
pp. BMI.S1115 ◽  
Author(s):  
Anthony J. Russo ◽  
Lauren Neville ◽  
Christine Wroge
Keyword(s):  
Gastrointestinal Disease ◽  
Family Members ◽  
Serum Levels ◽  
Normal Serum ◽  
Autistic Children ◽  
Respiratory Problems ◽  
Low Levels ◽  
Alpha 1 Antitrypsin ◽  
And Gender ◽  
Low Serum

Aim Deficiency of Alpha-1-antitrypsin (AAT) can be a genetic condition that increases the risk of developing liver, lung and possibly gastrointestinal disease. Since many autistic children also have gastrointestinal disorders, this study was designed to measure serum concentration of AAT and establish AAT genotypes in autistic children, age and gender matched non-autistic siblings, parents and controls. Subjects and Methods We used an indirect ELISA with monoclonal IgG to AAT to measure AAT serum concentrations in 71 members from 16 families of individuals with autism and 18 controls (no family history of autism). We used a duplex polymerase chain reaction to detect M, S and Z alleles for alpha-1 antitrypsin expression in 52 members of 12 of the above families. Results A significantly high number of autistic family members had lower than normal serum levels of AAT when compared to controls. Autistic children with regressive onset had significantly lower levels of AAT compared to controls, and a significant number of autistic children with low serum AAT also had hyperbilirubinemia, gastrointestinal disease and respiratory problems. We also found that a significantly high number of these individuals had the PiMZ genotype and correspondingly low levels of serum alpha-1 antitrypsin. Discussion Knowing that low levels of alpha-1 antitrypsin may be inherited, and that low levels of AAT may be associated with GI disease in autistic children, genotyping autistic children may help identify individuals susceptible to developing digestive problems.

What is the Evolutionary Advantage of Migraine?

Cephalalgia ◽  
2002 ◽  
Vol 22 (8) ◽  
pp. 624-632 ◽  
Author(s):  
E Loder
Keyword(s):  
Nervous System ◽  
Natural Selection ◽  
Environmental Factors ◽  
Genetic Factors ◽  
Evolutionary Perspective ◽  
Defence Mechanism ◽  
Design Constraint ◽  
Trade Off ◽  
Evolutionary Advantage ◽  
Evolutionary Explanations

Susceptibility to migraine is determined by genetic factors and is therefore subject to the forces of natural selection. Migraine is a common and ancient disorder whose prevalence may be increasing, suggesting that a migraine-prone nervous system may be associated with reproductive or survival advantages. Five evolutionary explanations are reviewed that might account for the persistence of migraine: (i) migraine as a defence mechanism; (ii) migraine as a result of conflict with other organisms; (iii) migraine as result of novel environmental factors; (iv) migraine as a trade-off between genetic harms and benefits; and (v) migraine as a design constraint. An evolutionary perspective on migraine allows the generation of important hypotheses about the disorder and suggests rewarding possibilities for further research.

Neural Tube Defects: A Two-Pronged Approach to Primary Prevention

PEDIATRICS ◽  
1982 ◽  
Vol 70 (4) ◽  
pp. 648-650
Author(s):  
K. M. Laurence
Keyword(s):  
Folic Acid ◽  
Primary Prevention ◽  
Environmental Factors ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Genetic Background ◽  
Genetic Factors ◽  
Maternal Nutrition ◽  
Folic Acid Deficiency ◽  
Acid Deficiency

It is generally agreed that neural tube defects (NTD) have a multifactorial etiology when genetic factors render the developing fetus susceptible to intrauterine environmental factors acting during the fourth week of gestation to interfere with the orderly closure of the neural tube.1 As there is little likelihood that anything can be done about the genetic background, primary prevention would therefore be dependent on eliminating these factors from the environment or avoiding them. My intention here is to enlarge on some aspects of primary prevention of NTD as outlined by Smithells in an earlier issue (Pediatrics 69:498, 1982).2 One environmental factor, poor maternal nutrition and, more particularly, folic acid deficiency seems now to have been identified, but there are almost certainly a number of others.

The Nature and Origin of Common Phobic Fears

1979 ◽  
Vol 134 (4) ◽  
pp. 343-351 ◽  
Author(s):  
Svenn Torgersen
Keyword(s):  
Environmental Factors ◽  
Social Adjustment ◽  
Twin Study ◽  
Genetic Factors ◽  
Factor Analyses ◽  
Factors Affecting ◽  
Five Factors

SummaryBy means of a twin study an attempt was made to throw light upon the aetiology and nosology of phobic fears. Factor analyses revealed five factors, namely separation fears, animal fears, mutilation fears, social fears and nature fears. The study demonstrated that, apart from separation fears, genetic factors play a part in the strength as well as content of phobic fears. Environmental factors, affecting the development of dependence, reserve and neurotic traits generally, seemed also to be of some importance. It was further demonstrated that phobic fears were related to emotional and social adjustment and this was true to an even greater extent for separation fears.

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