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PubMed1988

The role of major gene in clubfoot.

The roles of major gene and multifactorial inheritance in the etiology of clubfoot (talipes equinovarus) were studied using Caucasian clubfoot families ascertained in Indiana. The method of analysis used was complex segregation analysis under the mixed model, in which five genetic parameters were examined to test hypotheses on major gene by displacement (t), degree of dominance (d), gene frequency (q), transmission probability (tau2), and multifactorial inheritance by heritability (H). The analysis showed that the segregation pattern of clubfoot in these families is best explained by assuming the action of a major gene with additional contribution of multifactorial inheritance. The estimates of the parameters under the best-fitting model were d = .82, t = 4.69, q = .030, tau2 = .50, and H = .17.

Clubfoot↗
PubMed2000

[Analysis on genetic pattern of familial type II diabetes mellitus].

OBJECTIVE: To analyse hereditary familial type II diabetes mellitus (type II DM), including its pattern and the transmitted expression on different sex of type II DM. METHODS: Familial analysis, segregation analysis, tests were used for multifactorial inheritance and threshold analysis. One hundred seventy-seven pedigrees of familial type II DM were studied. RESULTS: The heritability of familial type II DM was 143.06% +/- 3.3%. One dominant major gene might influence the genesis of type II DM. There were 214 nuclear families in 3 different mating types: U x U, U x A and A x A. The segregation ratios of U x U, U x A and A x A were 0.4703, 0.4838 and 0.6712 respectively. The results of tests for multifactorial inheritance and segregation analysis indicated that the genetic pattern of U x A and A x A nuclear families was not multifactorial inheritant and autosomal recessive (AR) but autosomal dominant (AD) inheritance. The genetic pattern of U x U nuclear families was neither AD nor AR inheritance. CONCLUSION: There was genetic heterogeneity in type II DM discovered with subgroupes of autosomal dominant inheritance in type II DM.

Adult↗
PubMed1982

Family studies in psoriasis. I. Complex segregation analysis.

The genetic background of psoriasis is unknown and its mode of inheritance is still controversial. Family studies in psoriasis were based on complex segregation analysis and a special computer programme was prepared. The results of the analysis in 244 families strongly suggest multifactorial inheritance of psoriasis vulgaris. Among the nine hypotheses of rank 1 and rank 2, the lowest value of chi-square, 72.847, was for recessive inheritance, but for the multifactorial model it was extremely low (chi-square = 35.980). The estimated heritability was 82%. It might be possible that at least two genetically distinct subpopulations of psoriasis vulgaris exist: one with multifactorial inheritance and a second with multigenic determination, if the disease were due to recessive genes and to one or more dominant factors. The theoretical recurrence risk of psoriasis for the multifactorial model was computed for families with normal parents and for families with one affected parent.

Alleles↗
PubMed1981

[Epidemiology of hypothyroidism due to congenital malformation of the gland: athyreosis or ectopic thyroid (author's transl)].

The neonatal characteristics of 322 cases of hypothyroidism due to congenital malformation of the gland --athyreosis or ectopic thyroid--were compared with a national sample of births (N = 11,373), and a sample of births in public hospitals in Paris (N = 12, 895), in order to see if genetic factors were involved in the etiology of the disease. The hypothesis of multifactorial inheritance has been especially studied. Factors which appeared compatible with a multifactorial etiology were: marked excess of females (74%); higher frequency of twins (3.4%), of maternal familial thyropathy (9.2% among the mothers), of familial cases of thyroid malformations (11 cases); higher frequency of associated malformations of multifactorial origin (5.4%). But this type of malformation was not more frequent among siblings and relatives of the studied cases; it is thus not possible to accept the hypothesis of multifactorial inheritance without reservation.

Adult↗
PubMed1998

Biological principles of heredity of and resistance to disease.

Understanding the biological principles of disease heredity and resistance to disease is a prerequisite for the incorporation of these factors into multi-trait breeding programmes. Mutations represent an evolutionary aspect of disease. The author reviews patterns of Mendelian inheritance and possible causes of non-Mendelian inheritance, such as multifactorial inheritance, expansion of trinucleotide repeats, mitochondiral inheritance and genomic imprinting, in relation to diseases of domestic animals. Host-pathogen interactions underlie genetic variability in resistance to disease. Infectious pathogens endowed with a high potential for evolutionary change use this potential to evade various host defence mechanisms. This interaction may have a competitive or co-evolutionary character. The host immune system copes with the variability of pathogens by using the potential of genetic diversity of lymphocytes in immunoglobulin, T-cell receptor and major histocompatibility complex genes. Possible mechanisms for maintenance of this diversity are discussed in the context of selection for disease resistance.

Animals↗
PubMed1987

Delusional depression: further evidence for genetic contribution.

To quantify the contribution of genetic factors in the pathogenesis of delusional depression, the incidence of major depression in the first degree relatives of 77 delusional, 76 nondelusional depressive patients, and 153 age- and sex-matched controls was calculated in a case-control study. The morbid risk for psychiatric disorders, including major depression and bipolar I disorder, did not distinguish the two proband groups. The segregation analysis showed that the model of multifactorial inheritance fits best to our results. Heritability was estimated on the basis of a threshold model for multifactorial inheritance, and a high contribution of genetic factors for both subgroups was found.

Adult↗
PubMed1984

Detection of major gene for Gilles de la Tourette syndrome.

The families of 250 consecutive, unselected patients with Tourette syndrome (TS) were analyzed. If the parents had either motor or vocal tics, but not both, there was an increased risk of both TS and tics in the offspring. The mode of inheritance of the combined tic-Tourette trait was evaluated in both nuclear families and extended pedigrees. Complex segregation analysis was carried out allowing for possible contributions from both a major autosomal locus and multifactorial inheritance of variation in the background of each genotype. The most likely mode of inheritance was a major semidominant gene, Ts, with low heritability of the multifactorial background variation. This was true regardless of assumptions about the prevalence of the disorder. The hypothesis of strict multifactorial inheritance could not be rejected with nuclear family data alone. However, the hypothesis of no major gene effect was rejected using data on 3 generations for any estimate of lifetime risk less than 12 per 1,000 in the general population. A pure recessive major gene effect was also rejected. With a gene frequency of approximately .5%, the penetrance was estimated to be about 94% in abnormal Ts/Ts homozygotes, 50% in Ts/ts heterozygotes, and less than 0.3% in normal ts/ts homozygotes. More than two of every three cases are heterozygotes, and nearly all other cases are phenocopies or new mutations. This is the first demonstration by segregation analysis of a major gene in a human neuropsychiatric disorder with a frequency approaching 1% of the population.

Alleles↗
PubMed1996

Migraine with aura: segregation analysis and heritability estimation.

A genetic study was performed in a group of 60 migraine patients and their first-degree relatives as well as in a group of sex- and age-matched controls. Segregation analysis showed that multifactorial inheritance seems to be the most probable mode of genetic transmission. Heritabilities were estimated according to the sex of probands and relatives. Our findings favor multifactorial inheritance, but the contribution of a major gene can not be excluded.

Adult↗
PubMed1975

[Genetic problems in pediatric cardiology (author's transl)].

The genetic background of cardiovascular malformations is discussed. Congenital heart disease may occur as a consequence of chromosomal anomalies and of single Mendelian gene defects, respectively. However, in the vast majority of cases, the hypothesis of multifactorial inheritance is the most plausible one. The rules of genetic counselling, which plays an increasingly important role in pediatric cardiology, are briefly outlined. In those cases which fit the multifactorial inheritance hypothesis, counselling depends on empiric recurrence risks.

Adolescent↗
PubMed1980

Neural tube malformations: complex segregation analysis and recurrence risk.

A sample of 223 families with at least one child with anencephaly and/or spina bifida was ascertained in Southern Poland, where the incidence of neural tube malformations is 0.92/1,000. The recurrence risk in proband's sibs was 3.4%. The calculated heritability (h2) was 76%, implying a substantial contribution of genetic factors to the cause of neural tube defects. Complex segregation analysis was applied in an attempt to discriminate between the hypothesis of a single locus and that of quasi-continuity under multifactorial inheritance. The results excluded the hypothesis of dominant inheritance with full penetrance. The hypothesis of the two-allele model (at a single locus) fit the data with the same degree of exactness; however, for all hypotheses the estimated penetrance was low, and the phenocopy frequency was high. Less accurate conformity was observed for the multifactorial hypothesis. In view of very low penetrance and high frequency of phenocopies in single locus hypotheses and the finding that empirical data gave better support to the multifactorial model, the differences in chi 2 values should not be viewed as sufficient to discriminate between single locus and multifactorial models. The recurrence risks, assessed in the complex segregation analysis, showed an increase together with the growing number (r) of affected children. For constant r the recurrence risks decreased in successive pregnancies. Although discrimination between the mendelian and multifactorial inheritance models was incomplete, the risk values obtained can be employed in genetic counseling.

Anencephaly↗
PubMed1986

Segregation analysis of cleft lip with or without cleft palate: a comparison of Danish and Japanese data.

The genetic basis of cleft lip with or without cleft palate [CL(P)] remains unresolved. The controversy on the role of a major gene is confounded with possible population differences. This study examines the issue of population differences by comparing two contrasting populations: Caucasians and Japanese. Japanese are known to have higher population incidence of CL(P) and yet lower recurrence risks among relatives. The study subjects consist of 2,998 nuclear families of the Danish population and 627 families of the Japanese population. The uniformly coded data were subjected to complex segregation analysis based on the mixed model. The analysis has revealed that the Danish data can be best explained by a combination of major gene action and multifactorial inheritance. The best-fitting model is characterized by recessive gene with displacement effect (t) of 2.7 in the standardized unit and gene frequency of .035. The heritability is estimated as .97. The transmission probability of Aa----a for the major gene is consistent with 1/2. On the contrary, the Japanese data can be best accounted for only by multifactorial inheritance with the heritability estimate of .77. No major heterogeneity could be detected between subsets of the data within the populations as grouped by types of ascertainment or mating. It is thus concluded that the observed inconsistency between the two populations is explained by a significant role of major gene in the Caucasian population, but not in the Japanese population.

Abnormalities, Multiple↗
PubMed1986

Genetic aspects of Perthes' disease. A critical review.

Contradictory theories of the mode of inheritance of Perthes' disease have been largely due to sampling error, which is revealed by comparison of four series. Confusion also has been caused by the unequal sex incidence of the disease. Family data from a series of 87 boys and 58 girls with Perthes' disease were combined with those of Gray et al. (223 boys and 44 girls) to provide the largest possible group for analysis. Proportions of first-, second-, and third-degree relatives affected were recorded separately for each sex of index cases and each sex of relatives. Comparison of the incidence of Perthes' disease in relatives with that in the general population of the same sex revealed features of multifactorial inheritance, and a gradient of 35:4:4:1 from first:second:third-degree relatives to the general population. Equal estimates of heritability (h2) from first cousin and sib data suggest that environmental factors are of relatively little importance in etiology. Heritability from sib data was 84 +/- 4%, giving a recurrence risk of 2.6% for sibs and offspring, which agrees with the empirical figure of 2.4%. It is argued that the concentration of cases in certain families is not inconsistent with multifactorial inheritance.

Female↗
PubMed1982

Indian childhood cirrhosis--a heritable disease.

Pedigree charts of 20 families with an index case of Indian childhood cirrhosis, and 70 families of age-matched controls are analysed. Only 177 families were informative for segregation analysis. A single ascertainment model was used for analysis. The hypotheses of autosomal-recessive, partial sex-linkage, and doubly recessive inheritance were found untenable. Multifactorial inheritance was found more plausible. The estimates of heritability of liability were 0.904 for propositi sib and 1.587 for propositi cousins, which indicates a strong role of heredity in the etiology of the disease.

Adult↗
PubMed2005

The keeshond defect in cardiac conotruncal development is oligogenic.

Earlier studies in the keeshond breed of dogs established that isolated conotruncal defects (CTDs) are a group of genetically and embryologically related cardiac malformations, including sub-clinical defects of the conal septum, conal ventricular septal defects, tetralogy of Fallot, and persistent truncus arteriosus. The same spectrum occurs in some human families. In both species, inheritance of non-syndromic CTDs is usually complex and multifactorial inheritance has been assumed. Previous studies in the keeshond suggested that susceptibility to CTD is an autosomal recessive trait, with alleles at modifying loci affecting severity. Here we report results of a genome-wide scan for CTD linked loci in a keeshond x beagle F1 backcross pedigree in which 46 of 101 offspring had CTDs. Two-point linkage analysis identified regions of suggestive linkage on each of three chromosomes CFA2, CFA9, and CFA15. No single locus accounted for segregation of CTDs in the pedigree, ruling out a single autosomal susceptibility locus. Multipoint analysis with Genehunter resulted in a corrected LOD score of 3.7 at the locus on CFA9 and supported linkage to the loci on CFA2 and CFA15 (LOD scores of 2.71 and 3.03). Genehunter Twolocus analysis suggested that CTD-predisposing alleles of these three loci are necessary, at least in pairs, to produce CTD. The canine CTD-linked chromosome regions are orthologous to human regions HSA5q11-13, HSA5q31, HSA17q11-24, and HSA4q31. We excluded from the linked regions in the dog, a number of genes known to have a role in the etiology of CTDs and predict that continuing studies will identify CTD-predisposing genes not previously recognized.

Animals↗
PubMed1975

Family studies in cases with malignant lymphomas.

A short review of the genetic aspects of tumors of the reticuloendothelial system is given. Of special interest is the observation of a "familial lymphohistiocytosis of the nervous system" published by PRICE et al. in 1971. Important are also our own observations with different types of malignant lymphoma in the same family. In addition to the possibilities of classical mendelian inheritance and the possibility of multifactorial inheritance preexisting immunological deficiency syndromes and chromosomal aberrations have to be considered as causal factors.

Consanguinity↗