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Results for “Multifactorial Inheritance”

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PubMed1992

The child at risk for developing heart disease. 3.

We discuss how to identify the child at risk for developing or having heart disease. We describe both the child at risk for developing adult-onset heart disease and the child or fetus at risk for having congenital heart disease. With respect to the child at risk for developing adult-onset heart disease, we concentrate on how four risk factors (cigarette smoking, hyperlipidemia, reduced physical activity, and obesity) affect the development of cardiovascular disease, and we review the types of therapy currently being used to modify them. We also discuss the etiological factors related to the risk of developing congenital heart disease, such as single-gene conditions, known cardiac teratogens, chromosomal anomalies, and multifactorial inheritance.

Child↗

PubMedDate not supplied

[Genetic aspects in Klippel-Trenaunay syndrome].

A thorough study of the genetic aspects of Klippel-Trenaunay syndrome revealed two further cases of K.T. in the family 2 of the 86 patients questioned. In addition, 7/4,000 first degree relatives had flat angiomas. The authors suggest that these individuals are in fact "mini-Klippels". "Formes frustes" of the syndrome can be explained by variable expression of the genetic defect. In all, 7/86 families were of particular genetic interest: - two families with two individuals suffering from KTS; - five families with several individuals with flat angiomas on one or more limbs. All these findings suggest multifactorial inheritance of the syndrome. It is not possible to calculate the precise probability of inheritance of the syndrome on the basis of our figures but we consider it to be of the order of 1 to 2%.

Child↗

PubMedDate not supplied

Pathogenesis of Menière's disease.

While endolymphatic hydrops is a characteristic pathologic feature of Menière's disease, there are exceptions to this rule. There is evidence that hydrops develops as a result of malabsorption of endolymph. This implies dysfunction of the endolymphatic sac and duct, which normally absorb endolymph. In approximately 20% of cases of Menière's disease, a specific pathologic condition in the temporal bone can be associated as a cause of endolymphatic hydrops. Syphilis, fractures of the temporal bone, otosclerosis, and preceding chronic otitis media are some of the more commonly encountered pathologic conditions so associated. Hypoplasia of the mastoid air-cell system and of periaqueductal air cells, and especially displacement medially but also anteriorly of the sigmoid (lateral) sinus are commonly observed in patients with Menière's disease. Evidence is available to substantiate the etiologic bases of Menière's disease as including multifactorial inheritance (1). The clinical symptoms and findings result from both chemical and physical mechanisms. Pathogenesis appears to be due to malabsorption of endolymph in the environment of the endolymphatic sac, primarily affecting longitudinal flow. The possible role of such processes as autoimmune reactions and viral inflammation, especially in the endolymphatic sac, should be further investigated in the future.

Endolymph↗

PubMed1991

Severe combined immunodeficiency among the Navajo. I. Characterization of phenotypes, epidemiology, and population genetics.

Previous studies have identified a high incidence of severe combined immunodeficiency (SCID) among the Navajo Native American population. To determine the incidence and population genetics of this condition, we reviewed the death certificates of all children who died between 1969 and 1982, established the cases that met criteria identified in previously investigated cases, and interviewed the selected children's families. SCID cases were distributed spatially and temporally. Segregation parameter estimates of 0.27-0.38 were obtained from data from 24 interviewed families, suggesting an estimated gene frequency of 2.1% (arguing against a multifactorial inheritance). SCID cases referred to specialty centers lacked T and B cells in their blood, and their serum immunoglobulins ranged from absent to near normal.

Arizona↗

PubMed1991

[Genetic study on OPLL in the cervical spine with HLA haplotype].

HLA typing was carried out in 27 families with cases of ossification of the posterior longitudinal ligament (OPLL) in the cervical spine, with haplotype analysis for genetic factors. The results showed a significantly higher incidence of rare haplotypes in probands than in the general Japanese population, suggesting that certain genes linked to HLA are responsible for OPLL. On examination of the distribution of HLA haplotypes in families with members suffering from cervical OPLL, no evidence of OPLL was found in members with only one haplotype in common with the proband. In 9 of 15 siblings with two haplotypes in common, however, OPLL was observed. Further analysis of HLA haplotyping may contribute to the elucidation of the genetic determinants of OPLL linked to two HLA haplotypes, probably based on multifactorial inheritance.

Adult↗

PubMed1990

Inflammatory bowel disease. An epidemiological and genetic study.

The epidemiology of ulcerative colitis (UC) in Stockholm County over a 25-year period, 1955-1979, was investigated. There were 1,274 cases--681 males and 593 females. The proportion of patients with proctitis, left-sided, and total extent of disease remained constant over the study period, as did the time interval between onset of symptoms and definite diagnosis. The incidence increased over the first 20 years followed by a plateau and was 4.3 per 10(5) inhabitants at the end of the study period. The peak incidence in relation to age increased, but remained in the 3rd and 4th decade throughout the study period. In a population-based study of UC the overall prevalence of extracolonic diagnoses was 21%. Seventy percent of patients with extracolonic diagnoses had extensive colitis whereas among the patients without extracolonic diagnoses only 28% had extensive colitis (p less than 0.001). The extracolonic diagnoses were classified into two major groups, activity-related and autoimmune, the former is related to the extent and activity of UC and responds to both medical and surgical treatment, whereas the latter is unaffected by medical and surgical treatment for UC. A total of 364 diagnoses were distributed among 271 UC patients. The prevalence of extracolonic diagnoses was higher in familial UC (p less than 0.05), but was distributed as UC in general mostly with activity-related diagnoses. The familial occurrence of inflammatory bowel disease (IBD) was investigated among 963 patients with UC. There was a general prevalence of 7.9% for familial IBD. In 80% one relative was affected, in most cases this was a first degree relative with UC. Sibship was the most common relationship. No concordance for UC was found among three pairs of monozygotic twins. The prevalence of UC in first degree relatives of index patients was 15 times higher than in non-relatives. The age at onset was significantly lower among patients with a family history for UC; they also had a higher prevalence of total colitis. The prevalence of Crohn's disease (CD) in first degree relatives of index patients with UC was almost 3.5 times higher than in non-relatives. Complex segregation analysis of 124 families with UC where two or more individuals were affected points to a rare additive major gene with a low penetrance as the cause of the disease with. About 20% of the affected were heterozygotes for the gene. There was no evidence for multifactorial inheritance. The prevalence of IBD was found to be 13.4% in a population-based study on patients with CD.(ABSTRACT TRUNCATED AT 400 WORDS)

Adult↗

PubMedDate not supplied

Multiple risk factors of nasopharyngeal carcinoma: Epstein-Barr virus, malarial infection, cigarette smoking and familial tendency.

A community-based case-control study was carried out to assess multiple risk factors and familial aggregation of nasopharyngeal carcinoma (NPC). All of the 347 pathologically-confirmed NPC new cases were serially recruited from the National Taiwan University Hospital, and healthy community controls one-to-one matched with cases on age, sex and residence were selected from household registration offices. NPC risk factors were obtained from the study subjects through standardized interviews according to a structured questionnaire. Levels of antibody to EBV-specific DNase (anti-EBV DNase) and IgA antibody to EBV viral capsid antigen (anti-EBV VCA) were determined by standard methods blindly. Multiple logistic regression analysis for matched data showed significant associations of NPC with high levels of anti-EBV DNase and anti-EBV VCA independently. The effect of cigarette smoking on NPC was modified by age. The older the age, the more striking the dose-response relation between cigarette smoking and NPC. There was no significant association between alcohol consumption and NPC. Malarial infection history was associated with NPC with an odds ratio of 2.2, but the association was significant in males only. First-degree relatives of NPC cases had a greater NPC-affected rate than those of matched healthy controls with a relative risk of 19.2, and the heritability of NPC was estimated as 0.60 (95% confidence interval = 0.55-0.64) based on the multifactorial inheritance model. Familial NPC cases were younger than sporadic cases, but environmental risk factors were similar in the two groups.

Adult↗

PubMed1990

Osteoarthrosis and congenital dysplasia of the hip in family members of children who have congenital dysplasia of the hip.

Four hundred and eight siblings, parents, and grandparents of seventy-eight children from the New England area who had congenital dysplasia of the hip were evaluated, by clinical examination and by measurements of the acetabulum on pelvic radiographs, for the signs and sequelae of congenital dysplasia of the hip. Six siblings and four mothers (representing seven of seventy-eight families) had been diagnosed with congenital dysplasia of the hip during childhood. The other ninety-one siblings were asymptomatic and had no radiographic evidence of dysplasia of the hip. In the adults in these families, acetabular coverage (as measured by the center-edge angle of Wiberg) was no different from that in the control subjects. There was no difference between the study group and the control subjects in the prevalence of osteoarthrosis of the hip or of osteoarthrosis that could be considered secondary to congenital dysplasia of the hip. The results indicate that children born to families that have a history of congenital dysplasia of the hip have a greater prevalence of this problem compared with the general population, but also that examinations of the hip in newborns are effective in detecting congenital dysplasia of the hip in such families. The greater prevalence of congenital disease of the hip among the siblings and mothers in these families is consistent with a multifactorial inheritance. The fact that acetabular development in the family members who did not have congenital dysplasia of the hip was no different from that in the control subjects suggests that acetabular dysplasia, rather than being an inherited abnormality, is secondary to subluxation or dislocation.

Acetabulum↗

PubMed1989

Evidence for a major additive gene in ulcerative colitis.

Complex segregation analysis of 124 families with ulcerative colitis with two or more affected individuals suggests a rare additive major gene causing the disease with about 20% affected among the heterozygotes for the gene. There was no evidence for multifactorial inheritance.

Colitis, Ulcerative↗

PubMed1989

[Coexistence of porphyria cutanea tarda and lupus erythematosus].

We report on the appearance of porphyria cutanea tarda in a patient with systemic LE and in two patients with discoid LE. A review is given on the corresponding literature. It is suggested that both lupus erythematosus and porphyria cutanea tarda have multifactorial inheritance. The cause of coexistence can be common genes responsible for the genetic determination which also predispose to the occurrence of both diseases. The question of etiology still remains obscure. This coexistence raises, however, a more practical question as regards the therapeutic modalities for the two diseases.

Adult↗

PubMed1988

Closed-angle glaucoma in 20 pairs of twins.

Two pairs of twins with chronic closed-angle glaucoma identified from the Finnish Twin Cohort Study were clinically studied by the author, and 18 other pairs of twins with the disease were ascertained from the Hospital Discharge Registry of Finland. One of the clinically studied pairs was a pair of monozygotic female twins concordant for chronic closed-angle glaucoma and the other was a pair of dizygotic female twins discordant for the disease. Of the pairs of twins ascertained from the registry one was a monozygotic male pair concordant for closed-angle glaucoma. The remaining 17 pairs (12 same-sex dizygotic and 5 monozygotic pairs) were discordant for the disease. The findings support multifactorial inheritance of chronic closed-angle glaucoma.

Aged↗

PubMed1988

Genetic analysis of systemic lupus erythematosus: 1. Detection of disease-associated variant proteins by two-dimensional gel electrophoresis.

Various genetic studies indicate that development of systemic lupus erythematosus (SLE) is regulated by the mode of multifactorial inheritance, i.e., by the overall effect of polygenes and environmental factors. To elucidate some variant genes involved in the polygenic system responsible for onset of SLE, we resolved and measured the protein components of lymphocytes and sera from inactive-SLE patients, their relatives, and normal controls, using two-dimensional gel electrophoresis. Intercomparison of polypeptide patterns between patients and controls revealed three major variations, two detected in lymphocytes and one in sera. These variations were present in 66-82% of the patients, in 20-36% of the control group, and in 41-64% of the relatives. In addition, nearly half of SLE patients, but only one of 19 normal controls, possessed all three SLE-associated traits, suggesting that these variant proteins may reflect in part the genetic factors contributing to development of SLE.

Adolescent↗

PubMed1977

Familial vesico-ureteral reflux.

Four families of which 2 or more members were affected with primary vesico-ureteral reflux are reported. A multifactorial inheritance pattern subject to environmental factors is likely. Early examination and detection of the disorder in relatives at risk provide an opportunity to avoid the serious sequelae of vesico-ureteral reflux.

Child↗

PubMed1988

[Possibility of the current segregation analysis to discriminate between monogenic and multifactorial types of inheritance of traits. The effect of the structure of family data on model robustness and power of the analysis].

The influence of sampling designs for robustness of the autosomal major locus model and the multifactorial model as well as possibility of segregation analysis to discriminate these models was studied. Nuclear families and 3-generation pedigrees were considered. It was found that robustness of models increased, when the size of sibships in nuclear families grows and when configuration of pedigrees is complicated. The resolution power of the analysis is always increased with size elevation of sibships, the highest effect of the analysis being observed for sibships of the size 3 or 4. Consideration of new generations is only advisable, if attracting sibs of these generations, the resolution power being increased, provided that the parameters of models are of high value.

Genetics, Population↗

PubMed1991

Genetic studies of febrile convulsions: analysis of twin and family data.

Children with febrile convulsions (FC) including 46 twin pairs, 1913 families including 393 sibling pairs, and 42 three-generation FC kindreds have been studied. Twin studies: (1) The pairwise concordance rate for FC was 69% (18/26 pairs) in monozygotic (MZ) and 20% (4/20 pairs) in dizygotic (DZ) twins (P less than 0.01). (2) The intra-pair similarity of clinical symptoms in 18 concordant MZ twin pairs showed a positive significant correlation, particularly in 4 items--duration of seizure, exogenous factors, intelligence level, and background EEG abnormality. These correlations were greater than those in sibling pairs. (3) No evident cause for discordance was detected in 8 discordant MZ twin pairs, and many dissimilar symptoms were observed in 4 concordant DZ twin pairs. Sibship studies: A large positive correlation of some clinical symptoms was observed in sibling pairs concordant for FC: age at onset of FC, degree of fever, duration of seizure, exogenous factors, and background EEG abnormality (r = +0.2- +0.6). Family history analysis: Morbidity risk among near relatives (17% in parents, 23% in siblings) than in second- (6.1%) or third-degree relatives (4.6%). The difference was found between: sibling greater than parents, uncles greater than aunts, male cousins greater than female cousins. Segregation analysis showed maternal preponderance. In 42 three-generation kindreds the morbidity risk was higher in siblings (32%), uncles/aunts (14%), and cousins (6.4%) than in relatives of other probands. Characteristic findings in FC patients with family history: Characteristic findings in FC patients with an FC parent or sibling, compared with those with no family history, were early onset of FC, lower degree of fever, longer duration of seizure, many recurrences, FC recurrence after age 3, and background EEG abnormality. Similar findings were more markedly observed in 42 3-generation kindreds. Mode of inheritance: A multifactorial mode of inheritance for FC receives some support from this study, and the heritability was estimated as 75%.

Child, Preschool↗

PubMed1988

[The possibility of modern segregation analysis to discriminate monogenic and multifactorial types of the inheritance of traits. The reliability of models and the power of the analysis].

Using computer simulation of family data sets within segregation analysis limits the comparative research of the autosomal major locus model (MLM) and the multifactorial model (MFM) which described the basic types of inheritance of the alternative traits (affected--nonaffected) has been conducted. Robustness of models (statistical aspect) and the power of the analysis (its possibility to discriminate MLM and MFM) are tested. It is shown that permissible level of relative errors for estimated population's frequency is increased, when the values of parameters of models are increased (with decrease of sporadic cases' portion). The power of the analysis is the greatest in the field of greatest robustness of models: the higher the parameters of models, the portion of sporadic cases being low, the stronger the power of the analysis. MFM satisfactorily describes family distribution given by additive MLM. On the contrary, if the MLM corresponds to the multifactorial traits, this model is additive. It is shown that the possibility of the analysis to reject alternative model is decreased when determination of model grows down.

Genes↗

PubMed2026

Polygenic risk score and its role in cancer susceptibility.

BACKGROUND: Polygenic risk score (PRS) has the ability to stratify inherited susceptibility to cancer and, as a complement to monogenic testing, can identify individuals at increased genetic risk even when no pathogenic variant is detected in high- or moderate-penetrance genes. It reflects the combined additive effects of a large number of low-penetrance variants across the genome, and represents a continuum of genetic susceptibility with an approximately normal distribution. Clinically relevant differences are typically observed in individuals in the highest and lowest percentiles of the PRS distribution, while relative risk gradients depend on the cancer type, the specific PRS model, and the reference population used. PRS is not a single test but rather a family of statistical models that differ in their design, predictive performance, and transferability across populations, underscoring the need for external validation and population-specific calibration of absolute risk. Broader implementation is thus still held back by differences between individual PRS models, limited transferability, and the lack of harmonized guidance on indication, reporting, and clinical decision-making. Consequently, clinical use in the European Union remains largely confined to pilot studies and local projects. Within these initiatives, PRS is most commonly applied in two main ways - either as a triage tool for intensified diagnostics or screening in higher-risk groups, or as a component of multifactorial absolute-risk models (e. g. BOADICEA/CanRisk) that integrate PRS with other risk factors such as pathogenic variants in moderate-penetrance genes (e. g. ATM or CHEK2), family history, or lifestyle factors. By refining absolute-risk estimates, PRS may shift individuals across clinical decision thresholds for more intensive surveillance and preventive strategies. AIM: This review summarizes the principles of PRS, the main sources of variability between models, and its potential applications in risk stratification and personalized cancer screening. It also addresses limitations in transferability, the need for calibration, and the currently limited evidence for improvements in hard clinical outcomes.

Humans↗

PubMed1977

[Genetic aspects of keratoconus (author's transl)].

The diverging views expressed in the literature on the inheritance of keratoconus gave us cause to examine the genetic relationships in 304 cases of keratoconus from our own clinic material. In the 22 cases (19 families) where two or more family members were affected, the genetic relationships generally indicated a multifactorial mode of inheritance, although isolated dominant or recessive variants could not be excluded. The assumption of a multifactorial inheritance is further supported by the occurrence of keratoconus in connection with various syndromes, as well as the fact that keratoconus does not only express itself in sharply defined stages, but also occurs in all possible degrees, from almost normal to the extreme.

Chromosome Aberrations↗