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At least 19 recordsLinked to original sources
PubMedDate not supplied

[Contribution of biology to nosology of depressive states. Neurochemical, endocrine and genetic factors (author's transl)].

Genetic factors have been evidenced in the etiology of manic-depressive syndromes through twins, morbidity risk studies, linkage studies with genetic markers such as color blindness and the Xga blood group, as well as through adoption studies. Most genetic studies indicate that there is a genetic and biological heterogeneity in manic-depressive illness. Among these manic-depressive syndromes, one group is consistent with a dominant X-linked transmission of the disease. From the neurochemical point of view, most investigators emphasize the importance of cerebral neurotransmitter substances such as catecholamines and indolamines in the pathogenesis of bipolar depressive states. According with this hypothesis, depression is associated with a functional deficit in brain monoamines while mania may be due to an hyperproduction of monoamines. These neuropharmacological studies are of importance because they also have neuroendocrine implications. Some pituitary hormones are secreted under the control of brain monoamines, and they are also implicated in the pathogenesis of depressive states.

Bipolar Disorder↗
PubMed2025

Influence of genetic factors of humans, mosquitoes and parasites, on the evolution of Plasmodium falciparum infections, malaria transmission and genetic control methods: a review of the literature.

Despite significant progress, malaria remains a public health problem in many regions, particularly in sub-Saharan Africa. This situation is partly explained by the mosquito's resistance to insecticides and the emergence of parasite resistance to antimalarial drugs. Indeed, in spite of the various vectors' controls, insecticide resistance emerges from multi-generational selection and poses worldwide concern. In parallel, artemisinin resistance unfortunately emerged independently in multiple countries in eastern Africa. Since 2014, artemisinin resistance has been observed in 6 countries in Africa and, more concerningly, the evidence from longitudinal molecular surveys in these countries suggests that it is spreading. While phenotypic evidence of treatment failure is still limited, the increasing reports of validated artemisinin resistance mutations are alarming. Unlike the emergence of artemisinin resistance in South-East Asia, our understanding of the genetic determinants of artemisinin resistance and our ability to sequence and map the spread of resistance are significantly greater. In addition to mosquito and parasite genetics affecting malaria evolution, many human individual variants have been identified that are associated with malaria protection, but the most important of all relates to the structure or function of red blood cells, the classical polymorphisms that causes sickle cell trait, α-thalassaemia, G6PD deficiency, and the major red cell blood group variants. In that biological complex context, there is a need to characterize the various genetic factors in Plasmodium falciparum, humans and mosquitoes that are potentially associated with resistance to antimalarial drugs and insecticides, and their involvement in the evolution, severity and transmission of malaria. In this direction, A comprehensive literature review was conducted to capture the objectives highlighted above. The advances in genomic surveillance and emerging genetic control strategies, such as gene drive technology were also considered in this review. We used search engines such as PubMed and Google scholar to retrieve articles useful to the objective of this paper and information on the knowledge of genetic factors and methods that contributed to malaria control were synthesized.

Humans↗
PubMed1978

[Genetic factors in the etiology of breast cancer (author's transl)].

A review of literature shows that, at present, genetic factors are difficult to distinguish from environmental factors. A number of studies have put into light relationships between factors tranmetted genetically and an increased risk of breast cancer in some women. This might be a reflect of the transmission of a certain susceptibility. However, one of these factors alone cannot explain the increase of the risk. Most likely, as for many types of cancers, the development of breast cancer is due both to a multigenic transmission of a certain susceptibility and to the action of environmental factors. Though, epidemiological studies make possible to identify a high risk population. A regular follow-up of this population would permit early diagnosis and possibly prophylactic measures concerning the known environmental factors, and in particular hormonal factors.

Adult↗
PubMedDate not supplied

Immunologic and genetic factors predisposing to allergy.

Allergy often begins with a subtle and/or transient T cell defect. This defect is first responsible for an IgA deficiency. The normal function of IgA is immune exclusion. In its absence, allergens can pass through the mucosa and stimulate the immunocompetent cells. The T cell defect may also be implied by the synthesis of IgE directed against the allergens which passed through. Clinical, biological and immunological findings (T cell defect in allergic disease, low range of IgA in the early life of atopics) are in agreement. The genetic factor for pollinosis and house dust allergy are segregated. In ragweed allergy there is an Ir gene coding for antigen-specific Ig of different classes and a group of non-linked major histocompatibility complex alleles coding for non antigen-specific IgE. There are some links with HLA. In house dust allergy the Ir gene is very common and almost everyone can produce an allergy under some conditions (T cell defect). Whatever the immunologic and genetic factors are, they need allergens and environmental factors to induce allergy. Allergy is a complex state in which several mechanisms, often associated and sometimes unclear, are involved. Some of them may be an abnormality of the autonomic nervous system, and/or an increase in the mucous membrane permeability, and/or a subtle immunodeficiency. All these mechanisms are regulated by genetic factors and modulated by environmental ones.

Environment↗
PubMed1979

Influence of genetic factors on natural resistance of mice to Pseudomonas aeruginosa.

In order to determine whether genetic background influences natural resistance to Pseudomonas aeruginosa, a series of 16 different strains of inbred mice were challenged intraperitoneally with P. aeruginosa. Significantly greater natural resistance to infection was found in mice of C3H background genome than in mice of A background genome. This phenomenon was documented for two different strains of P. aeruginosa but could not be demonstrated in control studies in which mice were intraperitoneally challenged with Staphylococcus aureus or Escherichia coli. The enhanced resistance of C3H mice was independent of currently defined haplotypes at the H-2 locus. The killing activity of serum against Pseudomonas was not greater in C3H mice than in A mice. The extension of these findings to disease in humans suggests that the particular susceptibility of certain populations of patients to Pseudomonas may be partially related to genetic factors.

Animals↗
PubMed1977

[Role of genetic factors in increasing the serum lactate dehydrogenase activity of schizophrenic patients].

To elucidate the role of genetic factors in the increase of the blood serum LDH activity in schizophrenics', there have been studied 103 patients, 97 first degree nonpsychotic relatives, 58 healthy people and 32 pairs of likesex MZ and DZ twins (schizophrenics and normals). A correlation between the enzyme activity in the probands and their relatives is marked. With the aid of a quantitative estimation of the degree of genetic determination of the studied characteristic and special and twin methods the authors obtained the results fitting the hypothesis of additive polygenic inheritance with threshold manifestation.

Diseases in Twins↗
PubMedDate not supplied

Rheumatology Rounds at the Hospital for Special Surgery. Aspects of systemic lupus erythematosus: consideration of viral and genetic factors, and remarks on therapy.

The presentation of SLE in one member of a twin pair has provided the background for discussion of genetic and environmental variables involved in the pathogenesis of the syndrome. There are promising leads (developing in parallel with studies in man and in NZB mice) suggesting that SLE results from the interaction of genetic factors with an etiologic stimulus provided by type-C RNA viruses. The principles of management of SLE have been reviewed briefly.

Adult↗
PubMedDate not supplied

[Role of genetic factors in the formation of trace reactions in man].

Trace processes due to presentation of visual nonverbal information, and the dynamics of the bioelectrical parameter (mean level of asymmetry of EEG-waves) were studies in 32 pairs of monozygote and 38 pairs of dizygote twins with twins method. Statistical processing of the data revealed a significant effect of genetic factors on the formation of individual variability of the characteristics of trace processes in humans. The results obtained showed that with increased functional load the intrapair similarity of trace reactions increased in monozygote twins and did not change or decrease in dizygote twins and in unrelated pairs. This fact is interpreted at a dependence of appearance of geneticly determined neurophysiological characteristics on the level of functional activity of the nervous system.

Adolescent↗
PubMed1978

Takayasu's disease in twin sisters. Possible genetic factors.

Takayasu's disease is well-known for its characteristic clinical features and its elusive etiology. Recently, we encountered twin Japanese sisters, both of whom were diagnosed as having Takayasu's disease. The parents, two sisters, and one brother are healthy. Family history revealed the parents are first cousins. Analyses of serveral blood types and HLA typing were performed on all members of the family, and it was confirmed that these twins are monozygotic. Moreover, HLA typing analyses revealed that one haplotype found in the father was passed only to these twins. The history of consanguinity of the parents, the occurrence in twins, and the results of HLA typing suggest a genetic factor in the etiology of Takayasu's disease.

Adolescent↗
PubMed2026

Meta-ERS: an exposome-based risk score using non-genetic factors to guide osteoporosis prevention.

BACKGROUND: Osteoporosis is influenced by both genetic and environmental factors, yet the relative contribution of the exposome remains unclear. This study aimed to systematically identify non-genetic exposures related to osteoporosis and develop an exposome risk score (ERS) to evaluate individual osteoporosis susceptibility. METHODS: We conducted an exposome-wide analysis of 477,792 UK Biobank participants to identify key exposures associated with osteoporosis. The selected exposures were combined into a weighted Meta-ERS and validated in the Scotland/Wales cohort. The Meta-ERS was further compared with polygenic risk scores (PRS) and linked to plasma proteomics to explore underlying biological pathways. RESULTS: We identified 41 independent non-genetic exposures spanning socioeconomic status, mental health, sleep, diet, smoking, physical activity, environment, and marital status, with socioeconomic status and mental health emerging as the most significant drivers. Based on the identified exposures, we constructed eight domain-specific exposure risk scores and integrated them into a weighted Meta-ERS. The Meta-ERS (R2 = 5.1%; Proportion of Chi-Square = 14.3%) demonstrated an ability to explain osteoporosis variation that was on par with polygenic risk scores (R2 = 4.8%; Proportion of Chi-Square = 12.0%). Importantly, modifying unfavorable exposures mitigated the negative effect of PRS on osteoporosis, particularly among high PRS individuals (1.5- to 1.8-fold greater absolute risk reduction than in those with low PRS). Proteomic analyses further revealed potential mechanisms through which the exposome influences osteoporosis, including hormonal regulation, inflammation, ossification, muscle development, lipid metabolism, and accelerated bone aging. Among these, growth/differentiation factor 15 was identified as a key mediator protein, with a mediation proportion of 13.13%-36.52%. CONCLUSIONS: The Meta-ERS facilitates the quantification of individual osteoporosis risk and identifies modifiable exposures for targeted prevention. Its application can enable personalized risk stratification and guide lifestyle or environmental interventions.

Aged↗
PubMed1978

Corneal thickness. II. Environmental and genetic factors.

In a material of 839 Greenland Eskimos with no corneal abnormalities, the variations of central corneal thickness (CT) were analysed from a genetic point of view. Environmental factors were suggested by a town-village difference in mean CT level (excess in town), by a higher CT level in families with an indoor occupation, and by a nearly significant husband-wife CT correlation. Using an age-sex-location-independent CT deviation score (CTDS) the family variations were studied in 86 families with two parents and one to seven children, and in 187 sibships with two to seven sibs. The first degree relationships showed a fairly high level of resemblance, which seems to indicate a major genetic influence on CT, with heritability estimates about 0.6--0.7. In men an association was found between CT and Caucasian admixture, which also suggested genetic factors. However, both findings call for reservation because of the socioeconomic environmental influence.

Adolescent↗
PubMed1977

Genetic factors in the development of chronic active hepatitis.

In 14 of 16 patients with chronic active hepatitis (C.A.H.) who did not have HLA antigens B8 and/or B12 an external triggering factor (drug or virus) could be demonstrated at onset of symptoms. In contrast external factors were involved in only 11 of 25 cases of C.A.H. in patients with HLA-B8 and/or B12. In the latter group antinuclear antibodies were less common in cases possible triggered by external agents compared with cases in which no such factor was demonstrated. The results suggest that there are at least two pathogenetically different types of C.A.H.---one genetically determined type in which no external factor is involved and in which autoimmune phenomena are common, and another type triggered by environmental agents and not involving predisposing genetic factors.

Autoantibodies↗
PubMed2026

Analysis of Genetic Factors in a Family With Short Stature.

BACKGROUND: To elucidate the genetic underpinnings of short stature in a familial cohort of five individuals. METHODS: A family with a history of short stature from Zhongnan Hospital of Wuhan University was the subject of this study. Peripheral blood samples were collected from family members for whole exome sequencing and Sanger sequencing to identify genetic anomalies. RESULTS: The male proband, aged 3&#x2009;years and 10&#x2009;months, had significant growth retardation, with a height of 91&#x2009;cm (<&#x2009;3rd percentile) and a weight of 13&#x2009;kg (<&#x2009;3rd percentile). Whole exome sequencing identified a missense mutation in the COL1A2 gene (c.577G>A, p.Gly193Ser) with maternal inheritance. Sanger sequencing confirmed this mutation in the mother and half-sister. According to American College of Medical Genetics and Genomics (ACMG) guidelines, this variant was classified as likely pathogenic. Additionally, a heterozygous mutation in the GH1 gene (c.291+1G>A) was detected in the father and grandfather, contributing to the familial short stature phenotype. CONCLUSION: In this family, we identified that variants in the COL1A2 and the GH1 can each cause short stature. This reflects both the genetic consistency and complexity of short stature, which is highly dependent on comprehensive genetic testing.

Humans↗
PubMed1978

Significance of genetic factors in Gilles de la Tourette syndrome: a review.

Observations suggesting a genetic basis for Gilles de la Tourette syndrome are reviewed with particular emphasis on the finding of familial aggregation. Studies of both Tourette syndrome and simple tic have found that approximately 30% of patients have a positive family history of tic. The significance of this figure depends on a number of factors, in particular the prevalence of positive tic histories in the population. If the latter figure is 10%, which the best available evidence suggests is a reasonable estimate, approximately 30% of families in the general population would be expected to contain at least one present or former tiquer. It is argued, therefore, that the family aggregation findings in Tourette syndrome do not support the hypothesis that the condition has a significant genetic component. Methodological considerations for future research are discussed.

Female↗
PubMed2025

Host Genetic Factors and Clinical Comorbidities Associated With Tuberculosis Risk.

HLA influence the immune response, shaping genetic susceptibility or resistance to tuberculosis (TB). This study aimed to investigate the associations of host genetics and comorbidities with TB infection in Taiwanese populations. This retrospective case-control study utilised data from the Taiwan Precision Medicine Initiative. TB cases and non-TB controls were compared using genome-wide association studies (GWAS), HLA allele typing, and genotype data. Multivariate logistic regression identified independent predictors of TB and interactions between risk factors. A total of 390 TB cases and 3,909 controls were analysed. Risk factors for TB included bronchiectasis (OR&#x2009;=&#x2009;2.76; 95% CI 1.54-4.44; p&#x2009;<&#x2009;0.001), diabetes mellitus (OR&#x2009;=&#x2009;1.30; 95% CI 1.00-1.68; p&#x2009;=&#x2009;0.050), malignancy (OR&#x2009;=&#x2009;1.46; 95% CI 1.15-1.85; p&#x2009;=&#x2009;0.002), smoking (OR&#x2009;=&#x2009;1.42; 95% CI 1.08-1.88; p&#x2009;=&#x2009;0.012), and steroid use (OR&#x2009;=&#x2009;1.66; 95% CI 1.29-2.13; p&#x2009;<&#x2009;0.001). HLA-DRB1*16:02 was associated with a higher frequency in the TB group (OR&#x2009;=&#x2009;1.47; 95% CI 1.04-2.09; p&#x2009;=&#x2009;0.030). Interaction analysis showed HLA-DRB1*16:02 increased TB risk in non-smokers (OR&#x2009;=&#x2009;1.58; 95% CI 1.02-2.46; p&#x2009;=&#x2009;0.042), but not in smokers. HLA-DRB1*16:02 was associated with a higher risk for TB. While carriers of HLA-DRB1*16:02 did not exhibit an increased risk of TB among smokers, we demonstrated a heightened risk among non-smokers.

Humans↗
PubMed2026

Suicidality phenotypes reflect both shared and distinct genetic factors.

Suicidality phenotypes, including suicidal ideation (SI), non-fatal suicide attempt (SA), and suicide death (SD), are heritable and exhibit both shared and phenotype-specific genetic influences. Using genomic structural equation modelling, we estimated the shared genetic architecture across GWAS of SI (176,147 cases, 1,010,300 controls), SA (53,919 cases, 1,063,988 controls), and SD (7,584 cases, 652,070 controls) and conducted a multivariate GWAS of a latent suicidality factor capturing their shared liability. This analysis identified 36 genome-wide significant loci, including seven not previously reported in any suicidality GWAS. Follow-up analyses identified residual genetic variance specific to each phenotype, including three SD-specific genomic risk loci. Conditioning suicidality phenotypes on genetic liability to psychiatric disorders revealed significant residual genetic variance across SI, SA, SD, and the suicidality common factor. Together, these results suggest that suicidality reflects both shared genetic liability and phenotype-specific contributions.

Journal Article↗