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Results for “Multifactorial Inheritance”

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PubMed1985

Genetic susceptibility in pityriasis versicolor.

300 patients with pityriasis versicolor, 168 males and 132 females, of different ages were included in this study. Each was subjected to a detailed structured questionnaire. All the available relatives had been examined. Pedigrees were constructed and segregation analysis was done using the mathematics of population genetics. The collected data showed genetic susceptibility which is inconsistent with any of the single gene defects but fulfill the criteria of multifactorial (genetic-environmental) inheritance. The heritability was estimated to be 22.2% in the first-degree relatives.

Chromosome Aberrations↗

PubMed1976

A genetic model of narcolepsy.

An analysis of recently published family history data on rapid eye movement (REM) narcolepsy was undertaken to determine the goodness-of-fit of a multifactorial (MF) model of inheritance. The analysis revealed that a two-threshold MF model can successfully account for the prevalence of REM narcolepsy and other disorders of excessive sleep (DES) observed in the first-degree relatives of the REM narcoleptic probands studied.

Humans↗

PubMed1989

Genetics, Alzheimer's disease and senile dementia.

Genetic factors in the aetiology of Alzheimer's disease (AD), are now being intensively investigated. The homogeneity of AD is under investigation. There are a few large kindreds with early onset of AD in whom transmission appears to be typically autosomal dominant, and 65% or more of the remaining cases at any age may have genetic aetiology. Both multifactorial and autosomal dominant inheritance with age-dependent expression have been proposed, but the late onset and death of unaffected relatives from competing causes make it difficult to choose between them. Lifetime risk gives the best estimate of incidence in family studies, but clinical and pathological criteria are not clear enough for confident diagnosis of AD in late old age. A role for external factors is indicated by twin studies, and the role of aluminium is currently under investigation. Molecular genetics promises to resolve many questions. The clinicians' role will be to provide well documented families for interdisciplinary research and to help in clarifying diagnosis in late old age.

Aged↗

PubMed1992

Influence of the host related factors in the development of the hepatosplenic form of schistosomiasis mansoni.

The frequency of hepatosplenomegaly in endemic areas is not proportional to the fecal ova count. This may be explained by epidemiological genetic. The occurrence of two or more cases of schistosomal hepatosplenomegaly in nuclear family is much higher than expected. The concentration is higher among siblings than it is among mothers and children of father and children. It is not significant between father and mother. If the mother, instead of the father, has hepatosplenic schistosomiasis the relative risk for the child to acquire hepatosplenomegaly is at least five times (the maternal affect). The inbreeding is higher in the hepatosplenic than in the hepato-intestinal patients. In some areas in Brazil the hepatosplenic form of the schistosomiasis mansoni occurs with much higher frequency in whites than in blacks. After treatment, reversion of hepatosplenic schistosomiasis occurs more frequently in non-whites. It seems that the resistance of blacks to the hepatosplenic form of schistosomiasis may be related to the glyoxalase system, perhaps associated to another genetic marker. The hepatosplenic schistosomiasis is less frequent in longilineal individuals. In some areas the hepatosplenic form of schistosomiasis is more frequent in A blood group of ABO system. The family heredograms do not suggest a single mendelian inheritance, but probably a multifactorial and possibly polygenic one.

ABO Blood-Group System↗

PubMed1986

Femoral hypoplasia-unusual facies syndrome: autopsy findings in an unusual case.

Femoral hypoplasia-unusual facies syndrome comprises malformations of the skeletal system consisting of shortened or absent bilateral femurs, variable bony sacral abnormalities, bilateral talipes equinovarus, and an unusual facies consisting of low-set ears with soft cartilage of the helix, up-slanting palpebral fissures, shortened nose, blunt alae nasi, elongated philtrum, and a thin upper lip. Inferiorly placed kidneys and a septated urinary bladder have also been reported, along with cardiovascular and gastrointestinal abnormalities such as esophageal reflux. The cause and pathogenesis are believed to be multifactorial and probably not inherited. We report the case of a newborn infant with visceral abnormalities not previously recognized in this complex: polysplenia, superiorly placed adrenals at the muscular diaphragms, a single pelvic kidney located in the uterosacral ligament, and anorectal agenesis with the colon ending in a blind pouch above the uterus.

Abnormalities, Multiple↗

PubMed1993

Uptake and utilization of DL-5-[methyl-14C] tetrahydropteroylmonoglutamate by cultured cytotrophoblasts associated with neural tube defects.

A significant advance in the primary prevention of neural tube defects (NTD) is the recent finding that the periconceptional supplementation with folate has a 72% preventive effect against recurrence of NTD. However, failure of folate supplements to prevent all recurrences supports the multifactorial causation hypothesis, with inherited components exerting their influence, possibly through defects of storage, transport, or metabolism of folate. We have assessed the kinetics of DL-5-[methyl-14C]tetrahydropteroylmonoglutamate ([14C]MTHF) uptake and incorporation into the nucleic acid and protein pools by NTD-associated and control trophoblasts cultured in a medium lacking thymidine and other DNA precursors. We report a significant initial "lag" in the rate of incorporation of 14C label into the nucleic acid pool in NTD-associated trophoblasts. This we attribute to a defect in the de novo pathway of folate metabolism and its associated pathways, including the pathway for methionine synthesis, although the rate of incorporation of 14C label into the protein pool was not significantly different from that of the control cells. We discuss the possible pathways involved in the transfer of the label from the methyl group of [14C]MTHF to the nucleic acid pool, and argue that a slightly (but significantly) reduced rate of uptake into the NTD-associated cells is a reflection of the lag in incorporation into the nucleic acid pool. It is concluded that in the absence of thymidine, most of the NTD-associated trophoblasts require a longer period than controls to adjust to utilization of [14C]MTHF for synthesis of DNA, a period that could be crucial for completion of neural tube embryogenesis. We suggest that these findings could offer a way to a marker for risk of NTD.

Biological Transport↗

PubMedDate not supplied

[Occurrence and economic importance of congenital hernia in German Fleckvich calves].

The frequency of congenital hernia was investigated in German Fleckvieh calves being driven up for sale on livestock markets for breeding and fattening calves in Miesbach and Traunstein. Data were collected on 77 livestock auctions in the years 1996 and 1997. Altogether 53,105 calves were examined and 1.8% of these calves showed a congenital umbilical hernia. The incidence of umbilical hernia was significantly influenced by the sex of the calf, the occurrence of multiple births, the market place/market date, the sire and the sire line. Red Holstein blood proportion, lactation number, duration of pregnancy and 305 day milk performance were not of significant importance. Herd milk level did not influence the incidence of congenital umbilical hernia, however, herdmate averages for calves differed significantly in their incidence. The average difference of the market price between male calves affected by congenital umbilical hernia and not affected male calves amounted to 75 DM, in female calves, however, only to 38 DM. The risk, that a congenital umbilical hernia is not closing within an age of 15 months, depends on the width of the hernial opening in the newborn calf. An opening of 4 cm and more has only a healing chance of 50% and less. However, negative effects on fattening and carcass traits could be not found. The genetic influence on congenital umbilical hernia was obvious. The analyses indicated that the incidence of congenital umbilical hernia observed could not be explained by one autosomal recessive gene locus, but it seemed much more likely that more than one gene locus is involved or a mixed multifactorial monogenic mode of inheritance may be the underlying genetic mechanism. Breeders should be aware of the implications of congenital hernias and thus, congenital hernia should get more attention in the selection process of young sires.

Animals↗

PubMed1992

Risk factors for cancer.

It is no longer reasonable to divide cancers into those that are genetic in origin and those that are environmental in origin. With rare exception, carcinogenesis involves environmental factors that directly or indirectly exert a change in the cell's genome. Virtually all causes of cancer are multifactorial, sometimes involving an inherited predisposition to the carcinogenic effects of environmental factors, which include chemicals, ionizing radiation, and oncogenic virus. Carcinogenesis is a multistep process including induction, promotion, and progression. Initiation requires an irreversible change in the cellular genome, whereas promotion is commonly associated with prolonged and reversible exposure. Tumor progression results in genotypic and phenotypic changes associated with tumor growth, invasion, and metastasis. Most information on human cancer risk is based on epidemiologic studies involving both exposed and unexposed individuals. The quality of such studies depends on their ability to assess the strength of any association of exposure and disease and careful attention to any potential bias. Few cancers are inherited in a Mendelian fashion. Several preneoplastic conditions, however, are clearly inherited and several malignancies demonstrate weak familial patterns. Environmental factors may exert their effect on DNA in a random fashion, but certain consistent changes, including specific translocations of genetic information, are often found. Currently, there is great interest in the close proximity of certain oncogenes governing growth control to the consistent chromosomal changes observed. Such changes may represent a final common pathway of action for environmental carcinogens. Sufficient laboratory and epidemiologic evidence exists to establish a causal association of several chemical agents with cancer. The most important carcinogenic chemicals are associated with life-style factors, whereas agents related to other environmental, occupational, or medical exposure are numerically less important. Most chemical agents exert their carcinogenic effects as electrophilic reactants covalently binding to DNA. Certain agents such as asbestos are carcinogenic by virtue of their physical properties. Several short-term tests have been used to screen for chemical carcinogens. Whole-animal studies remain the standard for predicting carcinogen risk in humans, although major limitations in such studies exist. Ionizing radiation also exerts its carcinogenic effect through damage to cellular macromolecules including DNA. Excess cancer risk appears after a latent period of several years following exposure. Risk increases in approximately a linear fashion in proportion to the radiation energy, cumulative dose, and a variety of host biologic factors. The greatest source of average radiation exposure to the US population is from the uranium decay product radon.(ABSTRACT TRUNCATED AT 400 WORDS)

Animals↗

PubMed1989

Genetic conditions among Canadian Mennonites: evidence for a founder effect among the old colony (Chortitza) Mennonites.

Distinctive disease patterns exist among Canadian Old Colony (Chortitza) Mennonites. This religious and genetic isolate is of 16th century Dutch/German ancestry. The group originated in the Netherlands, then settled in the Vistula delta area of western Prussia for 200 years. A small number of founding families later migrated to Chortitza, the "Old Colony", in the Ukraine in the late 18th/early 19th century, where they remained a distinct genetic isolate. This group has come to Canada over the past 100 years. The more conservative Canadian Mennonites of Chortitza descent practice strict endogamy, have a large family size and live predominantly in rural public health subdistricts in the four western provinces, and in southern Ontario. The world's largest reported familial aggregations of insulin-dependent diabetes mellitus, of autoimmune diseases and of Tourette syndrome were initially ascertained in a small northern Alberta public health subdistrict. Clusterings of malformations, inborn errors of metabolism, and other conditions were also found in the subdistrict, and in group descendents living in other provinces. A founder effect, or genetic drift, accounts for the familial aggregations of autosomal recessive and dominant conditions, some diseases of multifactorial determination, and other inherited conditions in Canadian kinships descending from this ancestral group. The medical literature on genetic conditions among Canadian Mennonites is reviewed and re-evaluated in the light of this information. There is biochemical, serologic, and molecular biologic evidence in favour of genetic homogeneity amongst patients with certain inherited conditions in this special population group. This genetic isolate offers potential for the study of the genetic epidemiology and molecular biology of inherited diseases. A computerized genealogic data base on about 1400 group members, as well as a cryopreserved lymphocyte/DNA bank on over 100 individuals with genetic conditions has been established in this special population group.

Alberta↗

PubMed1994

[Genetic basis of idiopathic epilepsy in the golden retriever].

The genetic aspect of idiopathic epilepsy in the Golden Retriever was examined. 336 pedigrees of a population of normal and epileptic dogs from five different generations were statistically evaluated. Most patients showed generalized Grand-mal seizures and the onset was within one to three years in 75% of the dogs. A significant sex predisposition for males was found. The increased manifestation of seizures in some subpopulations and the repeated occurrence in different families of the same sires revealed that there is a genetic basis for the condition of this breed. The results of pedigree analyses and binomial test support the hypothesis of an autosomal multifactorial recessive mode of inheritance. However, only an objective test-mating programme is likely to delineate the exact mode of inheritance.

Age Factors↗

PubMed1995

[Genetic variation in the apolipoprotein B gene].

It is well known that coronary heart disease (CHD) is multifactorial, with environmental and inherited risk factors both playing a role. Apolipoprotein B (apo B) is of major importance in lipoprotein metabolism and might play a central role in atherogenesis. The apo B gene is the obvious candidate gene to study the relations between lipid concentrations and CHD. Some rare mutations in the apo B gene affect plasma cholesterol levels, leading to either familial hypobetalipoproteinemia or familial defective apolipoprotein B100. Other frequent polymorphisms have little biological effect but, because of their high frequency, might contribute to the development of CHD in a given population. Many apo B gene polymorphisms are associated with variations in plasma lipid concentrations, including the response of plasma lipids to dietary intervention, and peripheral and coronary atherosclerosis. Age, body mass index and gender affect the degree and nature of the association between apo B genetic markers and normal lipid and lipoprotein levels. However, negative and contradictory results have also been reported. One likely explanation is differences between studies, including populations of different geographic origin, arbitrary definition of cases and controls and multiple criteria for CHD. Future work on the effect of the apo B locus on hyperlipidaemia and atherosclerosis must involve large numbers of patients belonging to carefully defined populations. Prospective studies using a combination of genetic markers in well-defined populations should lead to firm conclusions on the role of apo B in atherogenesis and coronary heart disease.

Apolipoproteins B↗

PubMed1977

Genetic factors in the development of atheroma and on serum total cholesterol levels in inbred mice and their hybrids.

There is a consistent genetic relationship between the development of atheromata in the aortic sinus wall and serum total cholesterol levels using inbred strains of male mice. This relationship is dependent on a multifactorial (polygenic) type of inheritance that is more complicated than the simple additive-dominance model. There is no special maternal or paternal influence on serum total cholesterol levels or on the development of atheromata.

Animals↗

PubMed1998

[Idiopathic scoliosis: epidemiology and etiology].

Authors present current knowledge about incidence and etiologic factors in idiopathic scoliosis (IS). Most data about incidence are based on screening examination in school children. Amount of patient with IS is related to the method of evaluation and experience of examiner. There is 1.9% to 3% cases in whole population if scoliosis is assumed as much as 10 degrees of Cobb angle (SRS). Etiology of IS is still in doubt despite of many investigations. There are many abnormalities in tissues but most of them probably secondary to this process. Etiology is multifactorial with dominance of inheritance. There are many genes responsible for occurrence of IS but genetic trait is still unknown.

Child↗

PubMed1975

[Heterogeneity and several clinico-genetic correlations in epilepsy under inbred conditions].

The types of inheritance and clinico-genetical correlatins of epilepsy in 291 probands in conditions of inbreeding were studied. The data obtained confirmed the multifactorial (gene-polygene+medium) inheritance of epileptic and convulsive predispositions and contradicted the hypothesis of primarily recessive inheritance of epilepsy. Together with family forms of the disease, which were communicated mainly according to an uncertained and dominant type (rarely recessive type), there were existed forms of eipilepsy with incomplete genetical hereditary predisposition (which were observed in relatives of 2-3 generations only by epileptic features) and phenotypical forms concentrated in sporadic groups. There were found the dependences onthe rate of occurrence of secondary epilepsy (with or without epileptoidness), epileptoid psychopathy and children convulsions in relatives, on the type of inheritance, the age of manifestations, the form, polymorphism of the attacks, the severity of the developement of epilepsy, the expressiveness of epileptoidness in probands and high severity of the disease with distinct epileptoidness inbreeding families. The hereditary heterogeneity of epilepsy, associated, perhaps, with pleiotropy of epileptic (with or without epileptoidness) genes, was assumed. The found clinico-genetical correlaltions mightbe taken into account in medico-genetical prognosis of families burdened by epilspsy in analogous populational-demographic conditions.

Adolescent↗

PubMed1998

Genetic loci controlling body fat, lipoprotein metabolism, and insulin levels in a multifactorial mouse model.

We analyzed the inheritance of body fat, leptin levels, plasma lipoprotein levels, insulin levels, and related traits in an intercross between inbred mouse strains CAST/Ei and C57BL/6J. CAST/Ei mice are unusually lean, with only approximately 8% of body weight as fat, whereas C57BL/6J mice have approximately 18% body fat. Quantitative trait locus analysis using > 200 F2 mice revealed highly significant loci (lod scores > 4.3) on chromosomes 2 (three separate loci) and 9 that contribute to mouse fat-pad mass for mice on a high-fat diet. Some loci also influenced plasma lipoprotein levels and insulin levels either on chow or high-fat diets. Two loci for body fat and lipoprotein levels (on central and distal chromosome 2) coincided with a locus having strong effects on hepatic lipase activity, an activity associated with visceral obesity and lipoprotein levels in humans. A locus contributing to plasma leptin levels (lod score 5.3) but not obesity was identified on chromosome 4, near the leptin receptor gene. These data identify candidate regions and candidate genes for studies of human obesity and diabetes, and suggest obesity is highly complex in terms of the number of genetic factors involved. Finally, they support the existence of specific genetic interactions between body fat, insulin metabolism, and lipoprotein metabolism.

Adipose Tissue↗

PubMed1999

[Inheritable causes and risk factors of Alzheimer's disease].

A multifactorial etiology underlies the majority of cases of Alzheimer's disease (AD). Both ill-defined environmental and genetic factors contribute to the development of the disease. Allele epsilon 4 of ApoE is a genetic risk factor. Its presence increases the risk of developing AD. However, presence of e4 is neither necessary nor sufficient for the disease to arise. Apart from the common multifactorial forms of the disease, there are rare variants which are inherited as Mendelian traits. To date three genes are known that can be mutated in these rare forms of AD. Of these, mutations in the gene presenilin 1 on chromosome 14 are most frequent. In addition, mutations in the gene presenilin 2 on chromosome 1 and in the amyloid precursor protein gene (APP on chromosome 21) occur in autosomal dominant AD. This article reviews our present knowledge of the genetics of AD and discusses its relevance for patients with AD and their relatives.

Alzheimer Disease↗

PubMed2000

[Hereditary cancer syndromes in gynecology: what the practitioner needs to know!].

During the last 5 years progress in molecular genetics has offered the possibility of genetic testing for inherited mutations of cancer-predisposing genes. The exact cellular function and carcinogenic potential of these genes is yet not completely understood. Only in 5-20% of all cancers inherited genetic mutations play an important role in the polygenic and multifactorial nature of the disease. Identification of inherited cancer syndromes, predictive genetic testing, and counselling of women and family members at increased risk is of clinical importance. The debate surrounding presymptomatic diagnostic testing and adequate programmes for early cancer detection, prevention or clinical follow-up continues.

Breast Neoplasms↗

PubMedDate not supplied

The genetics of leprosy.

Population and family distributions of leprosy in the Bogia Subprovince of Papua New Guinea have been examined for evidence of inherited susceptibility to the disease. Evidence for multigenic inheritance of leprosy severity is provided by the restriction of pleiotropy with red-cell enzyme 6PGD phenotypes to a single clinical form of leprosy and by the superior fit of pedigree data to a multifactorial, rather than single-gene model, of inheritance. Discrimination of the multifactorial model as superior to the single-gene model in testing the mode of inheritance of quasi-continuous multiple threshold traits was possible by extending the models to incorporate information on assortative mating for leprosy. Leprosy epidemiological patterns simulated blood genetic marker gene frequency distributions of 13 polymorphic loci in their dependence on linguistic and distance effects. In an analysis of leprosy prevalence rates in 25 languages, leprosy rates corresponded more closely with linguistic similarity than with geographic proximity, suggesting the importance of ancestral genetic relationships between groups as a determinant of similarity in between-group leprosy susceptibility.

Blood Group Antigens↗