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Results for “multifactorial inheritance”

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PubMed1985

Male pseudohermaphroditism due to 3 beta-hydroxysteroid dehydrogenase-isomerase deficiency associated with atrial septal defect.

Male pseudohermaphroditism in a 6 month old boy, due to congenital 3 beta-hydroxysteroid dehydrogenase deficiency, associated with atrial septal defect, is reported. At 2 weeks he required therapy for severe dehydration and projectile vomiting. The parents were first cousins and one female sibling had died suddenly at 2 months. The patient presented with melanoderma, perineal hypospadias with testicles in a bifid scrotum and atrial septal defect (ostium secundum). Complete cytogenetic studies showed a 46,XY karyotype. Serum sodium ranged from 129 to 140 mEq/l and serum potassium from 5.1 to 4.6 mEq/l. Basal plasma hormonal studies showed normal androstenedione (delta 4A), decreased cortisol (F), slightly elevated ACTH, 17-hydroxy-progesterone (17-OH-P) and testosterone (T), and highly increased dehydroepiandrosterone-sulphate (DHEA-S) levels. ACTH stimulation increased and DXM suppression decreased the plasma levels of DHEA-S, 17-OH-P and T but not that of F; hCG stimulation during cortisone therapy did not change the levels of DHEA-S and T. Corticosteroid therapy normalized electrolyte levels and reduced melanoderma and hormonal hypersecretion. Moderately elevated plasma levels of 17-OH-P and T suggest a partial testicular 3 beta-HSD deficiency. The multifactorial inheritance and the relatively high prevalence of atrial septal defect vs the rarity of adrenal enzymatic defect suggest a causal association even if a common genetic factor cannot be excluded.

3-Hydroxysteroid Dehydrogenases↗

PubMed2003

The genetic basis of infertility.

Infertility is defined as the inability to conceive after one year of regular unprotected intercourse; approximately one in six couples wishing to start a family fall into this category. Although, in many cases, the diagnosis is simply 'unexplained', a variety of reasons including lack of ovulation, mechanical stoppage, sperm deficiencies and parental age have been implicated. It is difficult to assess accurately the overall magnitude of the contribution of genetics to infertility as most, if not all, conditions are likely to have a genetic component, for example susceptibility to infection. Nevertheless, a significant number of infertility phenotypes have been associated with specific genetic anomalies. The genetic causes of infertility are varied and include chromosomal abnormalities, single gene disorders and phenotypes with multifactorial inheritance. Some genetic factors influence males specifically, whereas others affect both males and females. For example, chromosome translocations affect both males and females, whereas Klinefelter syndrome and the subsequent infertility phenotype caused by it are specific to males. This article reviews current research in the genetic basis of infertility; gender-specific disorders and those affecting both sexes are considered.

Adult↗

PubMedDate not supplied

[Discrimination between genetic factors in attention deficit].

INTRODUCTION AND OBJECTIVE: In order to elucidate the genetic and environmental components involved in the susceptibility to develop attention deficit hyperactivity disorder (ADHD), a complex segregation analysis on nuclear families (n = 53) ascertained from affected probands belonging to Medellín, in the Antioquian State, Colombia, was performed. METHODS AND RESULTS: Models of cohort effect (non-inheritance), multifactorial, recessive major gene, non-major gene component and non-transmission of major gene were rejected. Contrarily, dominant and codominant major gene models and non-multifactorial component could not be rejected. Thus, the better model fitting the data was that of the major gene (dominant/codominant). This major gene explains more than 99.99% of the ADHD phenotypic variance (value of heritability in the mixed model equal to 0.007%), which permit to assume a low aport of the environmental component to the phenotype ADHD. Gene frequency of the major gene was 3% in the general population of Antioquia and its penetrance was closed to 30%. CONCLUSION: Some cautions and aspects related to the bias of the interview and diagnosis of the parents are discussed.

Attention Deficit Disorder with Hyperactivity↗

PubMed1999

[Hypertrophic pyloric stenosis in twins].

Two cases of the pyloric stenosis in twins were described. Etiology of the illness stays still difficult to explain. It is generally accepted that pyloric stenosis has multifactorial inheritance. Familial occurrence of the illness in twins suggests this etiology.

Humans↗

PubMedDate not supplied

Migraine as a complex disease: heterogeneity, comorbidity and genotype-phenotype interactions.

Migraine is a chronic illness interspersed with acute signs and symptoms which is currently defined, according to IHS criteria, in terms of "attacks". However, this should not lead us to ignore a critical point emerging from the simple observation of patients, i.e. the variability of the combinations in which the disease manifests itself in the same individual and especially in different individuals. This heterogeneity underpins both migraine "as attacks" (e.g. presence/absence of aura, different pain severity) and migraine "as a disease" (e.g. different onset, occurrence, association with other diseases, evolution, outcome). Genetic determinants are certainly at the basis of some migraine forms, and the role of genetics is now increasing due to the better phenotypical characterization rendered possible by the 1988 criteria. In most cases, however, migraine occurs as multifactorial inherited character. The level of complexity is further increased by the effect of "modifying" genes (such as those encoding for dopamine receptors), by comorbidity (the non coincidental association with other neurological diseases), and by the fact that the expression of comorbidity varies over time (phenotypical heterochronia). The clinical-descriptive approach allows only a partial understanding of migraine, the nature of which is more complex and heterogeneous than previously thought.

Adult↗

PubMed1975

The treatment of genetic disorders.

Dermatologists see many patients with disorders that have an important but variable genetic component. Conditions caused by multifactorial inheritance, which account for many patients seen in dermatologic practice, have a strong environmental component in their cause and are generally the most responsive to therapy. Treatment is also possible for many conditions of dermatologic importance that are caused by mutant genes of large effect. At this time, there is little chance of treating the patient in the sense of genetic engineering, but some understanding of the theoretic basis for laboratory manipulation of DNA is a prerequisite to understanding the possible potential of new forms of therapy.

Animals↗

PubMed2000

[The human genome project in the year 2000].

The human genome project was officially launched in 1990. This program started with a mapping phase which led to the development of a genetic map, a physical map based on large DNA fragments and more recently, a map of genes. Since 1996, the programme has progressively shifted to massive sequencing. A spectacular acceleration has occurred during the last 12 months and about 90% of the sequence is at present available in a draft format. This will be soon followed by a more complete version and by the progressive completion of each of the 24 chromosomes, a few of which being already in a "finished" state. It is to be hoped that the genome sequence, which can be used to efficiently identify genes involved in Mendelian phenotypes and which will lead to a better understanding of the evolution process, will also allow us to address other questions, such as those involving multifactorial inheritance.

Human Genome Project↗

PubMed1975

[Genetic studies in hypoplastic left heart syndrome (author's transl)].

The families of the 18 patients with hypoplastic left heart syndrome (HLH), who died in the Universitätskinderklinik Erlangen between 1967 and January 1974, have been investigated. There was no consanguinity of the parents. Only one sib has died of a cardiac failure which possibly could have been HLH. Therefore it could be excluded that HLH is an autosomal-recessive disorder. The overall incidence of cardiac failure in the sibs of patients was 3. Most of the patients with HLH have been born in June-August and December-January. Environmental factors seem to be of importance in the genesis of HLH. Our results suggest multifactorial inheritance of the hypoplastic left heart syndrome.

Abnormalities, Multiple↗

PubMed2000

[Genetic epidemiological study on non-insulin dependent diabetes mellitus].

OBJECTIVE: To study the general genetic pattern of non-insulin dependent diabetes mellitus patients. METHODS: 1,608 children were investigated for NIDDM family history, and 280 nuclear families were collected. RESULTS: The prevalence rates of NIDDM among first-degree relatives (2.38%), the parents (26.00%), the siblings (2.44%) and the offsprings (1.24%) were higher than that in general population respectively. The s/q was 10.17 by Penrose method, which was close to 1/q(1/2). The p(0) was 0.0244 by simple segregation analysis, which was lower than 0.10. The heritability of NIDDM was 0.54, using the Falconer Threshold Model. CONCLUSION: NIDDM has a familial aggregation, but not fit to the mono-genetic models. NIDDM has the feature of multifactorial inheritance.

Adult↗

PubMed2002

[Changing perception of hereditary eye diseases].

The authors present the cases of two parents with Usher syndrome type I who appeared to have normal offspring, and two families, one with autosomal dominant retinoblastoma and a RB1-gene mutation and one with primary open angle glaucoma and a myocilin gene mutation, in whom DNA-analysis was used to see whether check-ups were needed. The field of ophthalmogenetics comprises many disorders, both congenital and those with a later onset. Mendelian, mitochondrial, as well as multifactorial heredity is seen. Recent progress in this field, especially in molecular genetics, has created new possibilities, but some situations appear to be more complex than previously assumed. Particularly if there is genetic heterogeneity or multifactorial inheritance, possibilities for counselling and DNA analysis remain limited.

Adult↗

PubMed2002

[Analyses of genetic model of psoriasis vulgaris].

OBJECTIVE: To explore the possible genetic model of psoriasis vulgaris. METHODS: The complex segregation analysis and heritability calculation were performed with the aid of Penrose method, Falconer regression method and SAGE-REGTL program. RESULTS: It was found that in 1043 patients with psoriasis vulgaris, 305 patients (29.24%) have the family history of psoriasis, and 738 patients have not the family history. A ratio of s/q approached 1/(square root of q) with Penrose method, and the heritability values of psoriasis in the first-degree and second-degree relatives were 67.04%, 46.6% respectively. By complex segregation analysis, Mendelian, non-major-gene model and environment model were rejected for psoriasis. CONCLUSION: The results suggest that psoriasis follows a pattern of polygenetic or multifactorial inheritance rather than single-gene inheritance.

Adolescent↗

PubMedDate not supplied

Maxillary canine transpositions in two brothers and one sister: associated dental anomalies and genetic basis.

Transposition is an uncommon dental anomaly involving positional interchange of two teeth. The maxillary canine is the tooth more frequently transposed in man. Maxillary canine-first premolar appears to be the most common type of tooth transposition, followed by maxillary canine-lateral incisor transposition. Maxillary canine transpositions are frequently associated with other dental abnormalities such as agenesis and pegshaped incisors. This report describes the presence of transposed canines in one sister and two brothers. The female showed bilateral maxillary canine-first premolar transposition with the left canine fully mesial to its neighboring first premolar, and the right canine blocked-out facially between the first and second premolar. One of the brothers showed full maxillary left canine-lateral incisor transposition. The other brother showed maxillary canine-first premolar transposition and agenesis of maxillary lateral incisors, with the left canine blocked-out facially between the first and second premolar. Findings from this case report and other previously published cases provide strong evidence that maxillary canine transpositions are a disturbance of tooth order and eruptive position resulting from genetic influences within a multifactorial inheritance model.

Adolescent↗

PubMedDate not supplied

Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population.

Psoriasis is a chronic inflammatory skin disorder showing multifactorial inheritance. Linkage studies have mapped disease susceptibility loci to several genomic regions, including the chromosome 16 interval that contains the CARD15/NOD2 gene. CARD15 has been involved in Crohn's Disease (CD) susceptibility and it has been hypothesised that it may also contribute to the pathogenesis of psoriasis. To test this hypothesis we studied the distribution of 3 CARD15 SNPs in an Italian case-control data set. We failed to observe any significant difference between patients and controls, thereby excluding the presence of a strong genetic association between CARD15 gene polymorphisms and psoriasis, in the Italian population.

Alleles↗

PubMed1976

Prenatal diagnosis and genetic counseling.

Since the early 1960's knowledge regarding human genetics has increased at an exponential rate. Because genetics was not commonly taught in medical schools before the late 1960's, this review article is intended to acquaint physicians or refresh their knowledge regarding chromosomal, mendelian and multifactorial inheritance and the indications for prenatal diagnosis. Establishing an accurate diagnosis and mode of inheritance is essential in identifying and selecting those families at risk for genetic disease in their offspring. Medical genetics is evolving as a specialty in order to provide consultation and, if needed, management of those families who would benefit by genetic services. Families who would benefit from genetic counseling include, for example, those in whom any of the following conditions is present: known chromosomal disorders, known disorders due to mendelian inheritance, mental retardation of unknown origin, failure of sexual maturation or failure of sexual development, congenital malformations, floppy infant syndrome or leukemia.A list of more than 70 disorders now detectable in a fetus by means of amniocentesis provides a beginning in the prevention of genetic disease. Knowledge regarding these diseases allows a physician to provide families with accurate risk figures so that they may make informed decisions about having children. Also, a compassionate and nonjudgmental approach to counseling is essential. Decisions, in the final analysis, must be made by the family but aided and supported by the physician.

Chromosome Aberrations↗

PubMed1992

[Studies of distribution of subtypes of transferrin, group-specific component, alpha 1-antitrypsin in gastric cancer patients from Shanghai area].

The genetic polymorphism of transferrin (Tf) and alpha 1-Antitrypsin (alpha 1-AT) in 202 gastric cancer patients and 202 controls in Shanghai Hans were analyzed by isoelectric focusing. In transferrin, the phenotype frequency of C1C1 and gene frequencies of c1 and c2 were 0.3713, 0.5718 and 0.4109 respectively in gastric cancer patients, and 0.5149, 0.6782 and 0.2970 separately in controls. The frequencies of the c1c1 phenotype and the C1 gene increased significantly (p < 0.01) among the controls, while the frequency of the C2 gene greatly increased (p < 0.01) among the patients. The frequencies of the C2C2 in gastric cancer patients and controls were 0.2228 and 0.1436 respectively, showing a significant difference between them (p < 0.05). The genetic polymorphisms of group-specific component (Gc) in 200 gastric cancer patients and 200 controls in Shanghai Hans were studied with isoelectric focusing followed by immunofixation. The Gc1F1F phenotype frequency and 1Fgene frequency were 0.22 and 0.4375 in gastric cancer patients, and 0.14 and 0.3600 in controls, respectively. The frequencies of the Gc1F1F phenotype and the 1F gene were significantly increased (p < 0.05) among the patients. In alpha 1-Antitrypsin, there was no significant difference in phenotype frequencies and gene frequencies between the patients and controls. The data reported here indicate that the gastric cancer is associated positively with TfC2 and Gc1F, and negatively with TfC1. These facts support the notion that cancerogenesis is a multi-step process controlled by multifactorial inheritance.

Adult↗

PubMed2003

[Genetic aspects of migraine].

BACKGROUND, MATERIAL AND METHODS: On the basis of studies identified by Medline and PubMed searches, this review focuses on the genetics of migraine. RESULTS: Compared to the general population, first-degree relatives of probands with migraine without aura (MO) have a two-fold risk of MO, whereas first-degree relatives of probands with migraine with aura (MA) have a four-fold increased risk of MA. Population-based family and twin studies have shown that migraines with or without aura have a multifactorial inheritance. In patients with familial hemiplegic migraine, a rare variant, a mutated gene encoding a subunit of a brain-specific calcium channel in cell membranes has been found (CACNA1A). This gene may be of importance in the common forms of migraine in a few families and, at least in part, migraine may be a genetically determined channelopathy. However, migraine has also been linked to other genes with other functions, which makes the picture less clear. INTERPRETATION: It is to be hoped that in the next few years much more will be known about the molecular genetic mechanisms of migraines with and without aura. No gene is as yet defined.

Genetic Predisposition to Disease↗

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↗

PubMed2005

Genetic aspects of atopy and atopic dermatitis.

This review presents updated evidence on the genetic basis of atopy and atopic dermatitis. The etiology of atopic processes remains partially unknown but is likely to result from multifactorial inheritance, with an interaction between genetic and environmental factors. It seems that at least two major mechanisms, non-antigen specific and antigen specific, regulate the immune response to environmental allergens in humans. While many of environmental components have been studied for years, only recently significant progress has been made in identifying the genes responsible for susceptibility or expression of atopic diseases. Genome-wide screens in various populations have identified the locations of susceptibility genes for asthma and atopy as well as associated phenotypes such as bronchial hyperresponsiveness and increased total IgE concentrations typical for patients suffering from atopic dermatitis. Further research on genetic and environmental relationships is necessary for better understanding of atopic processes and development of new therapeutic approaches.

Dermatitis, Atopic↗