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Results for “Genetic connectivity”

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PubMed2006

Genetics of diabetic retinopathy.

Diabetes is rapidly increasing in frequency with an attendant toll of complications, including diabetic retinopathy. Although the underlying mechanisms remain elusive, genetic susceptibility is key to both types 1 and 2 diabetes and is increasingly recognized for its contribution to diabetic complications. In this article we review the evidence connecting genetic susceptibility to diabetic retinopathy. Elucidating the susceptibility genes and pathways should permit strategies to slow and reverse the troubling trends for the population, families, and individuals.

Diabetic Retinopathy↗

PubMed1992

The mouse genome: an overview.

A genetic map with one molecularly marked locus per cM will be available for the mouse in the near future. A map of this density should provide molecular reference points that connect genetic and physical maps, identify sites to initiate positional cloning studies for the molecular characterization of mutant loci, and define homologous regions of mouse and human genomes.

Animals↗

PubMed2026

Dissecting pleiotropy between major depressive disorder and physical disease comorbidities.

Major depressive disorder (MDD) is characterized by substantial comorbidity with medical conditions. To achieve better outcomes for patients with MDD, an improved understanding of the mechanisms underlying pervasive comorbidities is required. Here, to this end, we mapped patterns of pleiotropy by defining four clusters of physical diseases (cardiovascular, metabolic, gastrointestinal and immune) and analyzed their genetic relationships with MDD using genomic structural equation modeling. Three disease clusters exhibited independent associations with MDD and accounted for 47% of MDD h2SNP, with the gastrointestinal disease cluster having the strongest association (β = 0.63, s.e. = 0.05, P = 3.04 × 10-30). In addition, we identified independent loci associated with the shared genetic liability between each disease cluster and MDD, revealing different pleiotropic components. Characterization of these loci revealed previously unidentified associations with MDD and physical disease traits, along with unique biological pathways, drug groups, cell types and genes associated with each disease-MDD cluster. Our findings reveal genetic connections implicating the gut-brain axis as a key mechanism underlying the comorbidity of physical diseases in MDD. This work advances our understanding of MDD by highlighting unique and shared genetic components across different disease systems.

Major Depressive Disorder↗

PubMed1992

Survival of photoreceptor neurons in the compound eye of Drosophila depends on connections with the optic ganglia.

The importance of retinal innervation for the normal development of the optic ganglia in Drosophila is well documented. However, little is known about retrograde effects of the optic lobe on the adult photoreceptor cells (R-cells). We addressed this question by examining the survival of R-cells in mutant flies where R-cells do not connect to the brain. Although imaginal R-cells develop normally in the absence of connections to the optic lobes, we find that their continued survival requires these connections. Genetic mosaic studies with the disconnected (disco) mutation demonstrate that survival of R-cells does not depend on the genotype of the eye, but is correlated with the presence of connections to the optic ganglia. These results suggest the existence of retrograde interactions in the Drosophila visual system reminiscent of trophic interactions found in vertebrates.

Animals↗

PubMed1976

[A short observation on the cause of myopia (author's transl)].

The increased excretion of acid mucopolysaccharides in the urine of patients with advanced myopia is indeed relevant for understanding the chemical processes in the sclera during this period, but it does not say anything concerning the genesis of myopia as such. This is due more to an infiltrative malformation of the eyeball and the optic nerve. The behaviour of the connective tissue can also be due to infiltration, or contrariwise induced from parenchyma at the appropriate time. Hence therapeutic possibilities can hardly be deduced from the chemistry of the sclera. Abnormally small corneas in people with high myopia point to a genetic connection between such eyes and "true" microphthalmos with orbital cyst.

Humans↗

PubMed2026

Characterizing the impact of plasma protein levels on human brain structure and disorders leveraging integrative multi-omics analysis.

With recent advances in high-throughput proteomic technologies, population-scale plasma proteomics datasets, often linked to extensive genetic and phenotypic information, have become increasingly accessible. Yet the relationships between circulating protein levels, brain imaging phenotypes, and risk for neurological and psychiatric disorders remain largely unexplored. Proteome-wide association studies offer a promising approach for elucidating biological mechanisms that connect genetic variation to complex brain-related traits and diseases. In this study, we integrated protein quantitative trait loci (pQTLs) from the two largest plasma proteomic resources (the UK Biobank Pharma Proteomics Project [UKB-PPP] and Ferkingstad et al. [deCODE]) with genome-wide association studies of brain imaging-derived phenotypes in UK Biobank using Mendelian randomization and colocalization analyses. We identified 120 cis and 20 trans associations between plasma proteins and imaging phenotypes and validated these findings using brain tissue-derived proteomic and transcriptomic datasets. Multivariable Mendelian randomization revealed eleven plasma proteins (coding genes APOE, ARL3, MICB, NSF, RHOC, RSPO3, ENPP2, BTN2A1, EIF2AK3, MRVI1, and OPLAH) with significant direct effects on the risk of Alzheimer's disease, Parkinson's disease, multiple sclerosis, bipolar disorder, and schizophrenia. Single-cell expression and pathway enrichment analyses further revealed cell-type-specific effects and distinct biological processes underlying these protein-disease associations. Together, these findings demonstrate robust links between plasma protein variation and brain structure, delineate protein-disease pathways, and highlight the cellular and molecular mechanisms that contribute to neurobiological diversity and pathology.

Journal Article↗

PubMed1989

[Marfan disease presenting in neonates with rapid cardio-vascular failure. Apropos of 2 cases].

We report two exceedingly unusual and severe cases of Marfan syndrome with neonatal manifestations. Clinical features were caricatural. The skin was of the cutis laxa type. Both infants died shortly after birth as a result of severe cardiovascular lesions. Histologic examination of the aortic media confirmed the diagnosis. Because this genetic connective tissue dysplasia is inherited on an autosomal dominant basis with strong penetrance, and because in both instances the two parents had a negative family history, a dominant mutation seems likely in our cases and prompted us to be optimistic when giving genetic counseling. We point out the characteristic features of these exceptional early forms and describe the results of a detailed histologic examination of the skin that completes data from the literature.

Aorta↗

PubMed2005

Pedigree information reveals moderate to high levels of inbreeding and a weak population structure in the endangered Catalonian donkey breed.

The Catalonian donkey is one of the most endangered donkey breeds in the world. At present, five main subpopulations exist: AFRAC, which consists of many genetically connected Catalonian localities; Berga, which consists of a single herd located also in Catalunya but under private management; and three minor non-Catalonian subpopulations (Huesca, Sevilla and Toledo). In this study, we analysed the pedigree information of the Catalonian donkey herdbook to assess the genetic diversity and population structure of the breed. We found that the Catalonian donkey has suffered an important loss of genetic diversity and moderate to high increases of inbreeding because of the abuse of a few individuals in matings. This scenario is mainly characterized by the fact that both the effective number of founders and ancestors for the whole population was 70.6 and 27, respectively, while the equivalent number of founders was 146.5 and the number of ancestors explaining overall genetic variability was 93. In addition, only 14% of animals born between the 1960s and 1970s were significantly represented in the pedigree. Our results also show that subpopulations where breeders exchanged reproductive individuals had low levels of inbreeding and average relatedness. One subpopulation, Berga, was reproductively isolated and showed high levels of inbreeding (F = 7.22%), with average relatedness (AR = 6.61%) playing an important role in increasing the values of these coefficients in the whole pedigree. Using genealogical F-statistics we have found little evidence of population structuring (F(ST) = 0.0083) with major genetic differences among non-Catalonian subpopulations.

Animals↗

PubMed2006

Constructing families and kinship through donor insemination.

This paper presents some central findings of an exploratory qualitative study of New Zealand families with children conceived by donor insemination (DI). Drawing on social anthropological and sociological theorising about kinship and contemporary Western families, the paper explores the ways in which parents and their kin actively construct parent-child relationships and kin connections through the notions of biological and social ties, nature and nurture. The paper discusses three major themes emerging from the data: the social construction of the 'natural facts' of procreation, physical resemblance, and the construction of families through choice, not biology. Whilst the primacy of biological or genetic connection is a powerful cultural theme, particularly evident in the ambiguities and uncertainties for social fathers and their kin, these families also deconstruct this notion. Drawing simultaneously on the power of social and biological connection, using biology as a metaphor for social relations, or by privileging social ties and the formation of families through choice, over time these families strategically establish themselves as the sole parents and kin of their children conceived by DI.

Anthropology, Cultural↗

PubMed2004

Ehlers-Danlos syndrome, classical type: case management.

As the field of genetics expands, there will be more need for health care professionals to possess basic knowledge of genetic conditions and patterns of inheritance to assist their patients and to make the proper referrals. Ehlers-Danlos syndrome (EDS) is a group of genetic connective tissue disorders that affects approximately 1 in 5,000 live births, including males and females of all racial and ethnic groups. The main characteristics of EDS are skin hyperextensibility, tissue fragility, andjoint hypermobility. Diagnosis of EDS is often difficult due to the complexity of symptoms and lack of specific genetic tests. However, once a diagnosis is suspected or confirmed, nurses play a vital role in assisting the patient andfamily to manage the disorder. In this article, EDS symptoms and genetic basis, suggestions for management, and resources available for health care providers, families, and patients with EDS are provided.

Case Management↗

PubMedDate not supplied

Ehlers-Danlos Syndrome, classical type: case management.

As the field of genetics expands, there will be more need for health care professionals to possess basic knowledge of genetic conditions and patterns of inheritance to assist their patients and to make the proper referrals. Ehlers-Danlos Syndrome (EDS) is a group of genetic connective tissue disorders that affects approximately 1 in 5,000 live births, including males and females of all racial and ethnic groups. The main characteristics of EDS are skin hyperextensibility, tissue fragility, and joint hypermobility. Diagnosis of EDS is often difficult due to the complexity of symptoms and lack of specific genetic tests. However, once a diagnosis is suspected or confirmed, nurses play a vital role in assisting the patient and family to manage the disorder. This article describes EDS symptoms and genetic basis, provides suggestions for management, and reviews resources available for health care providers, families, and patients with EDS.

Case Management↗

PubMed1991

[Development and structure of epithelial formations of the connective tissue stroma of human gingiva].

Processes of development and structure of epithelial formations, localized in the connective tissue framework of the gingival mucous membrane have been studied. During the prenatal period of development they are presented as epithelial pearls of Serra, and after birth--as remnants of ++tooth-forming epithelium (RTE). They are remnants of sheaths of the destroyed pearls. The latter, like RTE in the gingival stroma, have a genetic connection with the epithelial islets of Malasser and can cause some diseases in the gingiva.

Adolescent↗

PubMed2026

From genotype to phenotype: understanding the genetic basis of autism.

PURPOSE OF REVIEW: This paper covers some of the key findings on the topic of genetic influences in autism over the last 12-18 months, which consist of significant conceptual shifts and new insights from recent technological advances. RECENT FINDINGS: Autism is a highly heritable condition, with significant heterogeneity of the genes that influence the development of this condition. The heterogeneity of autism, and multiple pathways contributing to the development of an autistic phenotype, create challenges in our understanding, diagnosis, and management of this condition.Recent studies of common genetic variation and polygenic risk scores have focussed on resolving phenotypic heterogeneity and identifying meaningful autism subtypes. Rare-variant discovery has expanded across ancestries, the X chromosome, noncoding loci, structural variants, and tandem repeats, aided by long-read and pangenome-informed sequencing. Single-cell multiomics, spatial perturbation methods and human organoid models have connected genetic variation to cell-type-specific and developmental phenotypes, while also revealing substantial mutation-specific effects and methodological sensitivity. Genetic testing increasingly provides aetiological diagnoses and informs medical surveillance. Recent developments also illustrate the therapeutic potential of gene-first approaches for selected monogenic neurodevelopmental disorders. SUMMARY: Recent developments have expanded our understanding of the way the genetic basis of autism manifests phenotypically.

autism↗

PubMed2004

Phylogeography of the Patelloida profunda group (Gastropoda: Lottidae): diversification in a dispersal-driven marine system.

In the last decade, greater than expected levels of genetic structure have been reported for many marine taxa with high dispersal capabilities. Although little-studied to date, it is predicted that taxa with poor dispersal abilities would exhibit even more genetic differentiation than high dispersal taxa. These systems may track biogeographical processes better than more dispersive taxa and, more critically, function as the 'lowest common denominators' in MPA design initiatives. We investigate phylogeographical patterns in the poorly dispersing, yet widely distributed Patelloida profunda group and related congeners across the Indo-west Pacific region. One hundred and twenty-five individuals were sequenced for COI mtDNA [593 base pairs (bp)] and 44 individuals were sequenced for 16S mtDNA (539 bp). Identified P. profunda group lineages are highly geographically structured, with 12 reciprocally monophyletic lineages reported from 13 localities. Divergences within Indian and Pacific basins range from d = 0.013 to 0.127 and between basins from d = 0.147 to 0.197. The latter split is ancient (> 15 Myr) and cannot be related to Plio-Pleistocene sea-level fluctuations, characteristic of previously reported divergences in the same region. Juxtaposed against this structure is genetic connectivity between two widely separated P. profunda populations that share a common haplotype (phiST = 0.001). This finding contrasts with previous work in the same geographical region and cautions strongly against single taxon indicators for designing conservation priorities or marine protected areas (MPAs). Historical and/or biological factors may play more significant roles than oceanography alone in determining the genetic structuring of taxa. In light of these findings, we discuss the difficulty in deriving biogeographical process or directionality from phylogenetic trees in dispersal-driven systems. Even with a well-resolved, highly supported topology, many equally parsimonious scenarios are possible.

Animals↗

PubMed2026

Multilevel Exploration of Shared Genetic Architecture Between Primary Biliary Cholangitis and Four Autoimmune Diseases.

INTRODUCTION: Primary Biliary Cholangitis (PBC) frequently coexists with various autoimmune diseases, such as Multiple Sclerosis (MS), Psoriasis (PS), Rheumatoid Arthritis (RA), and Sjögren's Syndrome (SS). Understanding the genetic associations between these diseases is crucial for providing deeper insights into their shared pathogenic mechanisms and comorbidity patterns. METHODS: This study utilized genome-wide association study summary data of PBC and four autoimmune diseases (MS, PS, RA, and SS). A multi-stage analytical pipeline was employed to systematically investigate the genetic associations between the diseases. The analytical approach consisted of three stages: first, linkage disequilibrium score regression and high-definition likelihood methods were applied to estimate overall genetic correlations between the diseases; second, local genetic correlation analysis was conducted to pinpoint genetic signals in specific chromosomal regions; third, conditional/conjunctional false discovery rate (cond/conjFDR) algorithms were used to quantitatively assess genetic overlap and identify shared susceptibility loci. RESULTS: Genome-wide analysis revealed significant genetic associations between PBC and the four autoimmune diseases (MS, PS, RA, and SS). Regional analysis showed local genetic correlations across various chromosomal segments. cond/conjFDR analysis confirmed genetic intersections among the diseases and identified several critical genetic polymorphic loci that influence disease susceptibility. DISCUSSION: This study comprehensively delineates the shared genetic architecture underlying PBC and four autoimmune diseases through integrative analyses of multiple genome-wide approaches. The results highlight strong genetic correlations, particularly between PBC and MS, PS, RA, and SS, and identify key shared susceptibility genes, including CLEC16A, CD58, CD86, STAT4, IRF5, TYK2, and TNFAIP3, which collectively mediate immune dysregulation through autophagy, cytokine signaling, and NF-κB pathways. These findings not only extend current understanding of the molecular mechanisms driving autoimmune comorbidity but also provide potential genetic targets for future functional validation and therapeutic exploration. CONCLUSION: This study provides comprehensive genomic evidence for the genetic connections between PBC and the four autoimmune diseases (MS, PS, RA, and SS), offering valuable insights into the shared pathological mechanisms underlying their comorbidities.

Humans↗

PubMed2000

Association of the I1307K APC mutation with hereditary and sporadic breast/ovarian cancer: more questions than answers.

The frequency of the APC I1307K mutation and its association with disease pattern was examined in 996 Ashkenazi women consisting of individuals with either sporadic (n = 382) or hereditary (n = 143) breast and/or ovarian cancer; asymptomatic BRCA1/2 mutation carriers (185delAG, 5382insC and 6174delT) (n= 53) and healthy controls (n= 418). The I1307K allele was equally distributed among women with sporadic (17/382; 4.6%) and inherited (10/143; 7%) breast and/or ovarian cancer irrespective of their being diagnosed before or after 42 years of age and among asymptomatic (7/53; 13.2%) and cancer manifesting BRCA1/2 carriers (10/143; 7%). Taken together, the prevalence of the I1307K allele was significantly higher in BRCA1/2 carriers compared to non-BRCA1/2 carriers (17/196; 8.7% and 40/800, 5%; respectively). The high prevalence of the I1307K allele among BRCA1/2 carriers is not associated with increased cancer risk but seems to be genetically connected because of Jewish ancestry.

Adenomatous Polyposis Coli Protein↗

PubMed1999

Evolutionary relationships among diverse bacteriophages and prophages: all the world's a phage.

We report DNA and predicted protein sequence similarities, implying homology, among genes of double-stranded DNA (dsDNA) bacteriophages and prophages spanning a broad phylogenetic range of host bacteria. The sequence matches reported here establish genetic connections, not always direct, among the lambdoid phages of Escherichia coli, phage phiC31 of Streptomyces, phages of Mycobacterium, a previously unrecognized cryptic prophage, phiflu, in the Haemophilus influenzae genome, and two small prophage-like elements, phiRv1 and phiRv2, in the genome of Mycobacterium tuberculosis. The results imply that these phage genes, and very possibly all of the dsDNA tailed phages, share common ancestry. We propose a model for the genetic structure and dynamics of the global phage population in which all dsDNA phage genomes are mosaics with access, by horizontal exchange, to a large common genetic pool but in which access to the gene pool is not uniform for all phage.

Bacteriophages↗

PubMed2004

An overview of the genetics of psychotic mood disorders.

This article presents a conceptual review of the genetic underpinnings of psychotic mood disorders. Both unipolar and bipolar forms of mood disorder sometimes feature psychotic symptoms. Some evidence from epidemiological research suggests that psychotic forms of mood disorder specifically might be heritable. Linkage studies of mood disorders in general have also provided some support for that notion, as have associated studies involving serotonin and dopamine genes and psychotic mood disorder. Some research suggests there might be a genetic connection between schizophrenia and bipolar disorder, undermining the Kraepelinian dichotomous classification of the psychoses. Future research should continue to examine psychotic forms of mood disorder using both epidemiological and molecular approaches.

Affective Disorders, Psychotic↗