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At least 271 records · Page 15Linked to original sources
PubMed1997

Ethnic differences in cancer incidence: a marker for inherited susceptibility?

Cancer incidence varies markedly by ethnicity and geographic location. Ethnic variation in cancer occurrence has traditionally been ascribed to differences in social, cultural, economic, and physical environments. However, this interpretation of the epidemiologic evidence may need to be revised as a result of new biological evidence and theories of carcinogenesis. Carcinogenesis is now recognized to be a multistep process during which mutations or heritable changes in expression occur in genes involved in cellular growth control and genome stability. Inherited cancer susceptibility may be a stronger determinant of ethnic differences in cancer incidence than is currently appreciated. To examine the potential role of inherited susceptibility, the theoretical contribution of inherited susceptibility to ethnic differences in rates in considered using a simple probability model. Germline mutations in tumor suppressor genes BRCA1 and p53 are used to illustrate the magnitude of the ethnic differences for breast cancer that might arise from differences in inherited susceptibility. Our simple model suggests that ethnic differences in cancer occurrence can result from differences in genetic susceptibility. However, the magnitude of ethnic relative risk is likely to more strongly reflect differences in the distribution of susceptibility genotypes between groups than the magnitude of the disease risk associated with the genotypes. For many scenarios, the ethnic relative risk arising from differences in susceptibility may be bounded by the ratio of the proportion of susceptible individuals in each group.

BRCA1 Protein↗
PubMed1995

A critique of the possibility of genetic inheritance of homosexual orientation.

Many workers in human sexuality have tried to discover causes of sexual orientation. No one theory has proved to be satisfactory. Studies of monozygotic and dizygotic twins, some of whom have been reared separately and some together, suggest that there may be an inherited component of homosexuality. Other studies, particularly those concerned with the evolution of human sexuality, question such a possibility. A further question arises because a large part of the human population is neither exclusively homosexual nor exclusively heterosexual. This paper will examine the evidence for genetic inheritance presented by twin and family studies. It will explore ways in which a gene favoring a homosexual orientation but not reproduction could continue to exist in a population. The importance of defining terms that refer to sexual orientation will be discussed in the context of determining exactly what may be inherited. Finally, the effects of accepting genetic inheritance as the cause of sexual orientation will be discussed.

Female↗
PubMed2002

Molecular biological and genetic approaches to the evaluation of inherited electrophysiologic disorders.

Although previously thought of as sporadic errors in development, some arrhythmias are now established to have a hereditary basis. The genetic and molecular bases of inherited cardiac arrhythmias are being recognized with increased frequency. Environmental and somatic influences may complicate classical identification of the patterns of inheritance. In several examples of inherited heart disease with a distinct molecular and genetic foundation, multiple gene defects appear to be responsible for similar phenotypes. In addition, specific genotypes may lead to differing severity of phenotype and differential prognostic risks. There is also variability in phenotypic expression, even among identical genotypes within a family, complicating risk stratification. Improved understanding of rare familial arrhythmia disorders may increase our overall comprehension of the pathophysiology of rhythm disturbances in general. The inherited arrhythmia disorders can be classified under three broad headings -- those familial arrhythmias that originate above the ventricles, familial arrhythmias originating within the ventricles and familial disorders affecting impulse propagation and cardiac conduction. Familial occurrences of tachyarrhythmias and bradyarrhythmias have been reported for each of these types of disorders. Recent discoveries of genetic etiologies have shed new light on the mechanisms underlying arrhythmogenesis and molecular genetics of cardiac electrophysiology.

Animals↗
PubMedDate not supplied

Epidemiology and inheritance of mitral valve prolapse in Dachshunds.

One hundred ninety consecutive Dachshunds >2 years of age, including 18 families consisting of both parents and 4 or more offspring, were examined clinically and echocardiographically to study the epidemiology and inheritance of mitral valve prolapse (MVP) and other signs of myxomatous mitral valve disease in the dog. From video-recorded echocardiograms, MVP severity, jet size (color Doppler), and leaflet thickness were assessed. With regard to murmur intensity and each of these 3 echocardiographic measurements. the inheritance and the influence of age, gender, coat type, body weight, degree of obesity, heart rate, and thorax dimensions were evaluated. MVP severity correlated positively with age (P < .0001) and heart rate (P = .002), negatively with thorax circumference (P = .0005), and was related to coat type (P = .006). MVP severity progressed faster in males than in females (P = .0002). The other measures of disease severity (jet size, leaflet thickness, and murmur intensity) also correlated positively with age (all P < .0001). When compared in pairs, all 4 measures of disease severity correlated significantly with one other. Pedigree analyses did not disclose agreement with simple Mendelian models, but high disease prevalence made interpretation difficult. Mean parental MVP severity correlated significantly with MVP severity in the offspring (P = .03). The epidemiology of MVP in Dachshunds resembles that of MVP in humans, MVP severity correlates significantly with other measures of the degree of myxomatous mitral valve disease, and MVP is an inherited condition in Dachshunds. A polygenic mode of inheritance is suggested.

Age Factors↗
PubMed1975

A difference between the inheritance of classical juvenile-onset and maturity-onset type diabetes of young people.

A difference in the inheritance of diabetes has been shown between the families of twenty-six patients with maturity-onset type diabetes of young people (MODY) and families of thirty-five patients with classical juvenile-onset diabetes (JOD). In the families of MODY: 1) twenty-two of twenty-six (85 per cent) propositi had a diabetic parent; 2) 46 per cent of families showed direct vertical transmission of diabetes through three generations; 3) of forty-seven tested siblings twenty-five (53 per cent) had latent diabetes; 4) the diabetic phenotype in the families was consistent, most affected individuals having a noninsulin requiring type of disease. These findings are compatible with autosomal dominant inheritance of MODY, although they do not exclude multifactorial inheritance. In contrast, in the families of JOD: 1) only four (11 per cent) of propositi had a diabetic parent; 2) three generation inheritance was found in only two (6 per cent) of JOD families, and 3) of seventy-four tested siblings eight (11 per cent) were diabetic. This difference provides further evidence of genetic heterogeneity in diabetes mellitus and indicates that there is a need for careful definition of the phenotype of diabetes in populations in which the genetics of diabetes is to be analyzed. Diabetes 24:44-53, January, 1975.

Adolescent↗
PubMed1994

Higher maternal than paternal inheritance of diabetes in GK rats.

Results from crosses between Goto-Kakizaki (GK) rats, which exhibit spontaneous non-insulin-dependent diabetes mellitus (NIDDM), and outbred nondiabetic Wistar rats have demonstrated an effect of maternal inheritance on diabetes in offspring of the first generation (F1). At 6 weeks of age, F1 offspring of sex-directed crosses exhibited plasma glucose values intermediate between GK and Wistar parents. Hyperglycemia in F1 rats born of female GK rats (F1GK) was more marked than in those born of female Wistar (F1W) rats. At 3 months of age, F1 rats showed a marked impairment of both glucose tolerance and insulin secretion, which was intermediate between GK and Wistar rats. Glucose intolerance was more pronounced in F1GK rats than in F1W. By contrast, insulin secretion in F1W rats was more deteriorated than in F1GK rats. No deletion in mitochondrial DNA was observed in the GK rats, which decreased the possibility of a mitochondrial inheritance effect as an explanation of our findings. These data support a polygenic model in diabetes inheritance of NIDDM and suggest that, in addition to genetic factors, a perturbed maternal metabolism can contribute to its inheritance.

Animals↗
PubMed2002

Inheritance of hypoadrenocorticism in bearded collies.

OBJECTIVE: To assess heritability and mode of inheritance for hypoadrenocorticism in Bearded Collies. ANIMALS: 635 Bearded Collies. PROCEDURES: Dogs were classified as affected by hypoadrenocorticism or unaffected. Phenotypic and pedigree data were analyzed. Heritability was estimated by use of Bayesian statistical methods. Regressive logistic models for complex segregation analyses were used to characterize mode of inheritance. RESULTS: Hypoadrenocorticism was diagnosed in 60 (9.4%) dogs. Heritability of hypoadrenocorticism was estimated to be 0.76 with both sexes affected with equal probability. Evaluation of the pedigrees did not support a Mendelian autosomal dominant mode of inheritance. Evidence from the complex segregation analysis for a single locus of large effect on hypoadrenocorticism was not convincing. CONCLUSIONS AND CLINICAL RELEVANCE: Hypoadrenocorticism in Bearded Collies is highly heritable. Although a precise genetic mechanism responsible for inheritance of the disorder remains undetermined, breeding decisions must include consideration of the genetic likelihood of passing on this deleterious disorder to offspring of affected dams and sires.

Adrenal Insufficiency↗
PubMed1981

Inherited renal disease and genetic counseling.

Inherited renal abnormalities and diseases are less common than acquired disorders. However, they are of great interest because their study results in increased understanding of the embryogenesis and physiology of the kidney, the pathogenesis of acquired disease, improved therapeutic approaches and accuracy of genetic counseling. Inherited defects of the kidney may be structural, functional or part of genetically transmitted systemic diseases that have major effects on renal structure and/or functions. Most structural defects of the kidney, with the exception of varying forms of cystic disease and the hereditary nephritides, are congenital and only rarely inherited in a Mendelian sense. The majority of genetically transmitted abnormalities of proximal and distal tubular function are caused by inborn metabolic errors or enzyme defects and deficiencies. Amniocentesis, ultrasonography and enzymatic assays have made the prenatal diagnosis of many inherited renal diseases possible so that more accurate counseling early therapeutic intervention may be provided.

Adolescent↗
PubMed1980

Distribution and inheritance of low serum thyroxine-binding globulin levels in Australian Aborigines: a new genetic variation.

Evidence is presented that low serum thyroxine-binding globulin (TBG) levels in Aborigines are widely distributed throughout Australia, and that these are inherited rather than acquired. Levels of TBG in children, and lack of any correlation of low TBG levels with alcohol consumption or liver dysfunction, suggest that the low levels are not acquired in adult life. Genetic studies in eight families indicate (with one exception) an autosomal dominant pattern of inheritance with direct male-to-male transmission. These findings are in marked contrast to the much rarer X-linked pattern of inheritance of low TBG levels in Caucasians. This type of prevalent and inherited low level of TBG in serum appears so far to be unique to the Aboriginal race. The synthesis (or degradation) of TBG may be controlled by an autosomal gene in Aborigines.

Adolescent↗
PubMed1999

Gene-gene and gene-environment interactions determine risk of thrombosis in families with inherited antithrombin deficiency.

To analyze inherited antithrombin deficiency as a risk factor for venous thromboembolism in various conditions with regard to the presence or absence of additional genetic or acquired risk factors, we compared 48 antithrombin-deficient individuals with 44 nondeficient individuals of 14 selected families with inherited antithrombin deficiency. The incidence of venous thromboembolism for antithrombin deficient individuals was 20 times higher than among nondeficient individuals (1.1% v 0.05% per year). At the age of 50 years, greater than 50% of antithrombin-deficient individuals had experienced thrombosis compared with 5% of nondeficient individuals. Additional genetic risk factors, Factor V Leiden and PT20210A, were found in more than half of these selected families. The effect of exposure to 2 genetic defects was a 5-fold increased incidence (4.6% per year; 95% confidence interval [CI], 1.9% to 11.1%). Acquired risk factors were often present, determining the onset of thrombosis. The incidence among those with exposure to antithrombin deficiency and an acquired risk factor was increased 20-fold (20.3% per year; 95% CI, 12.0% to 34.3%). In conclusion, in these thrombophilia families, the genetic and environmental factors interact to bring about venous thrombosis. Inherited antithrombin deficiency proves to be a prominent risk factor for venous thromboembolism. The increased risks among those with exposure to acquired risk factors should be considered and adequate prophylactic anticoagulant therapy in high-risk situations seems indicated in selected families with inherited antithrombin deficiency.

3' Untranslated Regions↗
PubMed2000

[Identification of mixed major genes and polygenes inheritance model of quantitative traits by using DH or RIL population].

The accuracy of the mixed inheritance analysis of quantitative traits with larger experimental error could be improved while using DH or RIL population. The segregation analysis method of identifying mixed major genes and polygenes inheritance model, including linkage inheritance model, of quantitative traits by using DH or RIL population was developed in this paper. The method may be applied to identify the mixed major gene and polygenes inheritance model of quantitative traits, estimate genetic effects and variances of major genes and polygenes, and the recombination value while there is linkage between two major genes. Finally, an example was used to illuminate the above procedure.

Genetic Linkage↗
PubMed2001

Effects of inherited thrombophilic mutations in an adolescent with antiphospholipid syndrome and systemic lupus erythematosus.

Thrombophilia can result from either inherited or acquired conditions. We describe a teenager who developed extensive thrombosis requiring aggressive and prolonged anticoagulation. Laboratory evaluation revealed an acquired lupus anticoagulant, consistent with the antiphospholipid antibody syndrome (APS). DNA analysis revealed inherited thrombophilic mutations in the factor V and methylene tetrahydrofolate reductase genes. We believe that the combination of inherited and acquired hypercoagulable conditions affected her therapeutic response to anticoagulant therapy. Inherited thrombophilic DNA mutations may contribute to the hypercoagulability observed in patients with acquired thrombophilic conditions such as APS and systemic lupus erythematosus.

Adolescent↗
PubMed2001

Inherited thrombophilic risk factors in a large cohort of individuals referred to Italian thrombophilia centers: distinct roles in different clinical settings.

BACKGROUND AND OBJECTIVES: Despite inherited thrombophilic risk factors being strongly associated with vein thrombosis, decisions on whether to screen subjects for these factors vary in different clinical settings. DESIGN AND METHODS: We calculated the prevalence of inherited thrombophilic risk factors in a large cohort of patients (n=1,238) with different clinical manifestations of vein thromboembolism. In the present cohort, screening for inherited thrombophilia was worthwhile among patients who developed vein thrombosis of the leg or cerebral vein thrombosis. Carriers of FV Leiden or FII A(20210) mutation more frequently had had deep vein thrombosis of the leg (OR: 4.35; 95% CI: 3.39-5.60), superficial vein thrombosis (OR: 3.34; 95% CI: 2.06-5.41), or cerebral vein thrombosis (OR: 2.77; 95% CI: 1.10-6.96). RESULTS: The screening program appeared to have a limited relevance in patients with isolated pulmonary embolism (OR: 2.13; 95% CI: 1.28-3.54), or mesenteric vein thrombosis (OR: 2.05; 95% CI: 1.22-3.44). INTERPRETATION AND CONCLUSIONS: The lack of association with inherited thrombophilia does not justify routine screening of patients with thrombosis of the upper extremities or with retinal vein thrombosis.

Adolescent↗
PubMed2000

[Investigation report on the inherited characteristics of congenital preauricular fistula].

OBJECTIVE: To further analyse the inherited characteristics of congenital preauricular fistula. METHOD: Analysed the familial incidence of 8 cases out of 73 (95 ears) which had been cured and investigated in our hospital in the past 16 years. RESULT: The disease could be inherited from either parents; It was of autosomal dominant in type; It was not sex-linked; They inherited either in the same side or both sides; It could be transferred between every other generations. CONCLUSION: All these were resulted in that congenital preauricular fistula was autosomal dominant inheritance with incomplete dominant.

Adolescent↗
PubMed1992

The inheritance of type I and type III von Willebrand's disease in Israel: linkage analysis, carrier detection and prenatal diagnosis using three intragenic restriction fragment length polymorphisms.

Three intragenic restriction fragment length polymorphisms (RFLPs) were used to study linkage and analyse the mode of inheritance in type I and type III von Willebrand's disease (vWD). In two families linkage was established between Sac I RFLPs and the inheritance of type I vWD. RFLP analysis of amniocyte DNA from a potentially affected foetus enabled us to establish a prenatal diagnosis of vWD in a third family with type I vWD. Linkage was also established in four families between the Sac I and two Taq I RFLPs and the inheritance of type III vWD. All type III probands were homozygotes and inherited the same mutant vWF allele from both parents. Heterozygous carriers from one type III family were phenotypically normal and could be detected only by linkage analysis, whereas carriers from the remaining three type III families were asymptomatic but had decreased values of vWF antigen and activity. RFLP-based linkage analysis of vWD alleles provides a way to improve the diagnostic precision, detect carriers, and may be useful for prenatal diagnosis of type III vWD.

Female↗
PubMed1990

Common major gene inheritance of extreme overweight.

We studied 3925 individuals in 961 families to determine the mode of inheritance of overweight. As an index of overweight, we examined body mass index. Our analyses indicate that the most likely genetic model for susceptibility to overweight included moderate polygenic inheritance (34% of variance resulting from many genes with small effects) and common (21% frequency) recessively expressed major genes (a few genes with large effects on the individuals who possess them). Standard statistical criteria for accepting both polygenic and major gene inheritance were met, including tests of Mendelian transmission. These results suggest that recessive major gene inheritance of overweight may be common and that homozygosity for overweight susceptibility alleles often results in overweight. Clinical, biologic, and empirical observations all suggest genetic heterogeneity, that is, more than one predisposing gene.

Adult↗
PubMed1989

Renal prognosis in Alport's and related syndromes: influence of the mode of inheritance.

Progressive hereditary nephritis is subdivided into Alport's syndrome (with extrarenal involvement) and hereditary nephritis without deafness. Three modes of inheritance have been described: X-linked dominant, autosomal dominant, and autosomal recessive. We reviewed the mode of inheritance in 48 kindred with hereditary nephritis (41 with Alport's syndrome and 7 with hereditary nephritis without deafness). It was presumed X-linked dominant in 34 Alport's syndrome and 6 hereditary nephritis without deafness, autosomal dominant in five hereditary nephritis and one hereditary nephritis without deafness, and autosomal recessive in two Alport's syndrome. We studied the cumulative renal survival of 149 patients, 128 (76 males, 52 females) with Alport's syndrome and 21 (10 males, and 11 females) with hereditary nephritis without deafness. Major prognostic factors were the patient's sex (median renal survival in males and females being respectively 32 versus 61 years in Alport's syndrome and 34 versus 57 years in hereditary nephritis without deafness), and the mode of inheritance (median renal survival in males being 25 years in X-linked dominant Alport's syndrome versus 51 years in autosomal dominant Alport's syndrome). The presence of hearing loss in the kindred or in the patient himself did not appear as a significant prognostic factor. We conclude that Alport's syndrome and hereditary nephritis without deafness are predominantly X-linked dominant diseases with the same renal outcome, and that in Alport's syndrome the patient's sex and the mode of inheritance are two independent prognostic factors.

Adult↗
PubMed1985

X-linked inheritance of epidermodysplasia verruciformis. Genetic and virologic studies of a kindred.

We describe a family with typical epidermodysplasia verruciformis (EV) in which only male members are affected. Whereas none of the index patient's ten children have EV, four of eight grandsons born to his daughters have inherited the disorder. All are infected with human papillomavirus (HPV) 3 and HPV 8. The inheritance in this kindred most likely results from an X-linked recessive genetic defect. Since other kindreds have been described with autosomal inheritance, this novel inheritance pattern suggests that the persistent high clinical susceptibility to HPV infection characteristic of EV may result from defects in either of at least two different genetic loci, one of which may be located on the X chromosome.

Animals↗