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Results for “multifactorial inheritance”

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PubMed1997

Large vestibular aqueduct syndrome: a genetic disease?

OBJECTIVE: Our objective was to determine the familial incidence of large vestibular aqueduct syndrome (LVAS) detected by CT and MR imaging and to propose the genetic inheritance of LVAS. MATERIALS AND METHODS: We retrospectively reviewed cases of LVAS revealed by temporal-bone CT and MR imaging at the University of Utah Health Sciences Center. We interviewed 25 patients with LVAS regarding family history of hearing loss. Any family members with onset of hearing loss before 30 years old also underwent CT and MR imaging. The vestibular aqueduct (on CT scans) or the endolymphatic duct (on MR images) was measured at the midpoint of the distal limb. A measurement greater than 1.5 mm in diameter was considered abnormally large. Diagnosis of LVAS was made if the patient had hearing loss and positive imaging findings. RESULTS: Of the 25 patients, five were found to have familial involvement, resulting in subsequent study of eight additional symptomatic individuals. A total of 33 patients had positive CT or MR imaging findings. Twenty-nine underwent both studies, two underwent CT only, and two underwent MR imaging only. Among the 33 patients with LVAS, 39% familial occurrence was observed (13 patients). In four of the five different families, the involvement occurred among siblings in one generation. In one of the five families, the involvement occurred in two generations, affecting an uncle and a cousin of the patient. CONCLUSION: In patients with LVAS, a significant subgroup had familial involvement. Based on the pedigrees of the familial cases, the pattern was most consistent with autosomal recessive inheritance, although a smaller component of autosomal dominant or multifactorial inheritance may exist.

Deafness↗

PubMed1985

Genetic analysis of cleft lip and cleft palate in southern Poland. II. Complex segregation analysis.

A complex segregation analysis based on the maximum likelihood method was applied on a sample of 329 families with CP and 687 families with CL +/- P. The results for CP malformations were equivocal, since the authors were unable to distinguish between the hypothesis of recessive inheritance with complete penetrance (chi 2 = 19.60) and that of multifactorial inheritance (chi 2 = 20.38). For CL +/- P lesions the most plausible hypothesis seemed to be that of dominant inheritance with low penetrance (t = 0.277) and relatively high frequency of phenocopies. For these hypotheses the values Q of theoretical recurrence risk were computed and presented.

Algorithms↗

PubMed1978

Familial systemic lupus erythematosus.

Pedigrees were obtained from 340 patients with systemic lupus erythematosus (SLE). Two hundred ten (62%) of the patients were from the wards of Lupus Clinic at the Los Angeles County-University of Southern California Medical Center, and 130 (38%) were from a private practice. Forty-one (12%) of the 340 patients with SLE had affected relatives: five had two and 36 had one affected relative. Ten (30%) of the 33 male patients and 31 (10%) of the 307 female patients had relatives with SLE. Examination of the individual pedigrees included examples of possible autosomal dominant, autosomal recessive, and sex-linked dominant and recessive inheritance. When all the pedigrees were considered as a group, multifactorial inheritance was suggested.

Female↗

PubMed1983

Hirschsprung disease: etiologic implications of unsuccessful prenatal diagnosis.

We describe an infant with Hirschsprung disease (congenital aganglionosis of the intestine) involving the colon and terminal ileum. Midtrimester prenatal diagnosis of this disorder in this infant was attempted utilizing amniotic fluid disaccharidase analyses, ultrasound, and amniography. Decreased disaccharidase activities in amniotic fluid have been reported previously in association with other forms of intestinal obstruction. At 15 weeks' gestation, normal amniotic fluid disaccharidase levels were obtained. Serial ultrasound evaluations did not indicate any pathology, and the results from amniography were inconclusive. The implication of the normal disaccharidase values is that Hirschsprung disease may in some cases result from degeneration of intestinal ganglia after 16 weeks' gestation rather than from faulty migration of neural crest cells. The inheritance of Hirschsprung disease is generally consistent with sex-modified multifactorial inheritance with a lower threshold of expression in males. The case we report has a family history of three affected first- and second-degree relatives. Autosomal dominance with variable expressivity is a possible explanation in this family.

Amniotic Fluid↗

PubMed1996

[Genetic factors study in family aggregation of schizophrenia in Santiago, Chile].

BACKGROUND: Genetic epidemiological studies indicate that genetic factors contribute to a familial aggregation of schizophrenia. The form of inheritance has not been elucidated but most studies have been done in Caucasian populations. AIM: To study the form of inheritance of schizophrenia in an urban population of Santiago, Chile, containing an admixture of Spanish origin individuals with Southamerican aborigines. SUBJECTS AND METHODS: Forty four randomly selected schizophrenic probands, 22 female, aged 28 to 48 years old, were studied. From them, an extensive genealogical reconstitution was performed. Probands and relatives were interviewed using the structured interview CIDI and DSM-III-R check-list. Schizophrenia was diagnosed using DSM-III-R criteria. Complex segregation analysis was done using Pointer program. RESULTS: The hypothesis of a multifactorial inheritance, without the participation of major genes, could not be rejected. Likewise, the major dominant and co-dominant gene forms of transmission could not be rejected. CONCLUSIONS: Our results show the participation of a major dominant locus and a multifactorial component in the inheritance of schizophrenia, as has been reported elsewhere.

Adult↗

PubMed1976

The importance of determining the mode of inheritance for the estimation of recurrence risks.

Recurrence risks for the generalised single locus model and for the multifactorial model have been derived and compared. First the areas of overlap for the two models were determined and sets of parameters chosen to represent these overlap areas. Certain sets of parameters for the single locus model give recurrence risks in sibships similar to these for multifactorial inheritance. Other sets (representing very low penetrant dominant genes) give markedly lower risks. Similar results hold for more complex family histories. Empiric risks for families with two or more affected individuals are needed so as to indicate the trend of the increase in risk which could then be extrapolated to other families and be used in genetic counseling.

Gene Frequency↗

PubMed1983

A defense of path analysis in genetic epidemiology.

Contemporary models of multifactorial inheritance are described and justified from the perspective of their intended use in genetic epidemiology and their developmental sequence. Substantial empirical data and statistical theory support the practical adequacy of the assumptions of path analysis for most multifactorial traits that show vertical inheritance. The choice of scale for quantitative traits must be considered on an individual basis. From both biological and statistical perspectives, transformations of scale may be more appropriate for analysis than the measurements are themselves. Recent criticism of contemporary models and computational procedures is based on a caricature of path analysis rather than on the method as it is actually practiced. The utility of path analysis is primarily limited by an investigator's biological insight and analytical skill, not by the method's assumptions. Model-free descriptive statistics are inherently inadequate to characterize the stable and autonomous features of the underlying mechanisms that generate observable variation in multifactorial traits. In contrast, path analysis has led to remarkably stable estimates of structural parameters for a wide variety of important biological traits. While exploratory methods can be useful for preliminary data inspection, they cannot substitute for formal tests of hypotheses based on explicit, falsifiable models.

Genetics, Medical↗

PubMed1998

The genetics of vitiligo in Korean patients.

BACKGROUND: Vitiligo is a common disorder whose exact cause is unknown, but genetic factors are thought to be involved. We analyzed 120 Korean proband families to clarify which genetic factors are involved in the pathogenesis of vitiligo in Korean patients. METHODS: The genetics of vitiligo were analyzed in 120 Korean proband families out of 1030 vitiligo patients. Each family was analyzed through a proband afflicted with vitiligo. RESULTS: In 51 (42.5%) of 120 proband families, at least one first-degree relative of the proband had vitiligo. The incidence of those affected among 1755 relatives (first-, second-, and third-degree) was found to be 8.0+/-0.6%. There was a statistically significant departure for segregation analysis which was inconsistent with inheritance as an autosomal or X-linked locus model. On the basis of our results, the inheritance pattern of vitiligo is more likely to tend toward the model of multifactorial inheritance. The threshold trait among first-degree relatives (7.2%) appeared to tend more toward the square root of the frequency in the general population (10%) than towards those of dominant (50%) or recessive (25%) models. CONCLUSIONS: These results indicate that there are certain genetic factors involved in the etiology of vitiligo, and that vitiligo seems to have a polygenic nature.

Female↗

PubMed1989

[Endocrine cells of the gastroduodenal area in duodenal ulcer].

A study has been carried out to substantiate the assumption that excessive proliferation of major gastroduodenal endocrine cells may be predetermined genetically. Hereditary predisposition to the hyperplasia of cells belonging to the APUD system may be inherited both through the male and female lines. Duodenal ulcers (DU) undoubtedly involves multifactorial inheritance. Acquired capacity for endocrine cell hyperplasia cannot be excluded in some of DU patients. The development of DU is, apparently, related to the formation of a pathological system, based on pathologic structure-linked neurohormonal relationships between the duodenum and peripheral and central nervous systems that enhance nerve impulses in the duodenal bulbar portion. A sudden "total" catecholamine release occurs at a certain stage and is followed by a change of production/utilization ratios of various hormones that weakens pathologic neurohormonal relationships, destroys the pathologic system and activates the healing process around the ulcer. The pathologic system, active in peptic ulcers, is doubtless counteracted by a system, whose activity must be determined by the number of endocrine cells with beta-endorphine-like and, perhaps, serotonin-like immunoreactivity. The antagonistic regulation principle is of great universal significance for general biology. It is essential for healing and chronization processes.

APUD Cells↗

PubMed1995

Teratogenic hearing loss.

Congenital hearing loss continues to be a devastating and disabling affliction in our society. In an effort to promote early recognition and treatment of hearing impairment in children, the Joint Committee on Infant Hearing has established a series of risk factors that place a newborn or infant at risk for hearing loss. These factors have been selected based on either genetic evidence of inherited familial hearing loss, acquired hearing loss from either known or unknown causative agents, or multifactorial inheritance that combines genetic and non-genetic factors. Included in these risk factors are exposures to environmental agents that possess the potential to adversely affect the developing auditory system. In this article, the principal environmental teratogens and their potential impact upon the auditory system will be reviewed.

Embryonic and Fetal Development↗

PubMed1981

Multiple-threshold transmission of affective disorders.

Data on bipolar and unipolar affective disorders were gathered on first-degree relatives of 255 patients with both illness types. As consistent with a model of continuous liability, bipolar probands were found to have more bipolar relatives and more relatives with any affective disorder than unipolar probands. Multiple-threshold models of inheritance were applied to the data using clinical polarity as a threshold determinant. The hypothesis of multifactorial inheritance was ruled out. Autosomal single-major-locus inheritance provided an acceptable fit to the data. It is proposed that separate genetic mechanisms for bipolar and unipolar disorders need not be present. The two illness types are represented in the model at different thresholds on a single continuum of genetic-environmental liability in which bipolar illness is claimed to be more deviant genetically than unipolar illness.

Bipolar Disorder↗

PubMed1983

The genetics of vitiligo.

The genetics of vitiligo has been studied in 150 probands and their families. A familial concentration of the disease has been demonstrated which supports the concept that hereditary factors contribute to the etiology of vitiligo. Segregation analysis was not consistent with inheritance at a single autosomal or x-linked locus. Further analysis suggested that vitiligo is determined by multifactorial inheritance. An estimate of heritability of liability was found to be 72.4%, indicating that genetic factors play a significant role in the etiology.

Adult↗

PubMedDate not supplied

Familial müllerian agenesis.

Müllerian agenesis is characterized by the absence of the fallopian tubes, uterus and internal portion of the vagina. Patients have normal female phenotype and genotype, with normal secondary sex characteristics but with amenorrhea. We report a family in which müllerian agenesis was diagnosed in three siblings and their two paternal aunts. This family was ascertained when the proband was evaluated for primary amenorrhea. She had normal secondary sexual development. Her karyotype was 46, XX. Ultrasound examination and magnetic resonance imaging of the pelvis revealed absence of the uterus and vagina. The proband had three sisters and two of them showed similar physical and radiological findings. Two of the proband's paternal aunts had no uterus. Although the pathogenesis of müllerian agenesis is well understood, the etiology and genetics are still unknown. Various forms of inheritance patterns have been suggested by several authors. In conclusion, it would appear that müllerian agenesis is influenced by multifactorial inheritance and polygenic and familial factors.

Adolescent↗

PubMed1975

[Investigations on the Heredity of the Nephrotic Syndrome (author's transl)].

The familial nephrotic syndrome has a frequency of 3%. There are 2 types of manifestation. A malignant form with probably autosomal recessive inheritance and bad prognosis, and a benign form with the histology of mimal change disease, complete recovery and a multifactorial inheritance. According to the literature and our own calculations there is in the BRD a yearly frequency of 9--14.4 families with a familial nephrotic syndrome, based on the assumption of 300--480 new cases of nephrotic syndrome per year.

Age Factors↗

PubMed1985

Uncomplicated familial hypospadias: evidence for autosomal recessive inheritance.

Uncomplicated hypospadias was found in eight members of a large, consanguineous Bedouin family. Virilization and fertility were normal in the only postpubertal individual. The inheritance is most likely autosomal recessive and we suggest that in some of the familial cases in which polygenic or multifactorial inheritance was previously proposed, homozygosity for recessive genes may be responsible for the increased risk to siblings. Dominantly transmitted hypertelorism with diastema was an independent and coincidental finding in this family.

Consanguinity↗

PubMed2002

Towards identification of genes in regionally accumulated strabismus.

Strabismus, as an inherited disease, is a new challenge to the geneticist. Various forms of strabismus can be found in distantly related members of the same family, who usually report to local ophthalmologists and orthoptic centers very rarely. In addition, local ophthalmologists and orthoptic centers very rarely pay attention to the genetic aspects of strabismus. Therefore, the recruitment of suitable families to identify the underlying genes is the major drawback in this effort. Further problems arise from the mode of inheritance, which can formally be characterized as autosomal dominant with reduced penetrance in most families, but should be considered as multifactorial inheritance with a threshold combination of mutated alleles. The present paper deals with a method for using local accumulations of strabismus patients to circumvent the problems of small families and rare numbers of affected persons. The steps on the way to the identification of strabismus genes will be described.

Chromosome Mapping↗

PubMed2004

Epidemiology and genetics of cluster headache.

Cluster headache, the most severe primary headache, is characterised by unilateral pain, ipsilateral autonomic features, and, in many cases, restlessness. Recent epidemiological studies indicate that the prevalence of cluster headache is about one person per 500. Genetic epidemiological surveys indicate that first-degree relatives are five to 18 times-and second-degree relatives, one to three times-more likely to have cluster headache than the general population. Inheritance is likely to be autosomal dominant with low penetrance in some families, although there may also be autosomal recessive or multifactorial inheritance in others. To date, no molecular genetic clues have been identified for cluster headache. Identification of genes for cluster headache is likely to be difficult because most families reported have few affected members and genetic heterogeneity is likely. Future focus should be on ion channel genes and clock genes. This review summarises the epidemiology and genetics of cluster headache.

Age Factors↗

PubMed1984

Genetics of Indian childhood cirrhosis.

Indian Childhood Cirrhosis (ICC) is a unique syndrome with characteristic clinical, epidemiological and histopathological features which is a major cause of mortality in India in children 1 to 4 years of age. The aetiopathogenesis of this invariably fatal disease is still obscure. Various theories of its aetiopathogenesis include genetic, viral, metabolic, toxic, autoimmune or a combination of factors. The present article deals with a brief review of literature to elucidate the possible genetic mechanisms involved. In earlier reports autosomal recessive (AR) mode of inheritance was suggested. A familial susceptibility, geographic limitation to the Indian sub-continent and some unknown environmental factors strongly suggest the multifactorial inheritance as the most likely genetic mechanism involved.

Child, Preschool↗