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At least 19 recordsLinked to original sources
PubMed2024

Bioinformatics analysis to identify the relationship between human papillomavirus-associated cervical cancer, toll-like receptors and exomes: A genetic epidemiology study.

INTRODUCTION: Genetic variants may influence Toll-like receptor (TLR) signaling in the immune response to human papillomavirus (HPV) infection and lead to cervical cancer. In this study, we investigated the pattern of TLR expression in the transcriptome of HPV-positive and HPV-negative cervical cancer samples and looked for variants potentially related to TLR gene alterations in exomes from different populations. MATERIALS AND METHODS: A cervical tissue sample from 28 women, which was obtained from the Gene Expression Omnibus database, was used to examine TLR gene expression. Subsequently, the transcripts related to the TLRs that showed significant gene expression were queried in the Genome Aggregation Database to search for variants in more than 5,728 exomes from different ethnicities. RESULTS: Cancer and HPV were found to be associated (p<0.0001). TLR1(p = 0.001), TLR3(p = 0.004), TLR4(221060_s_at)(p = 0.001), TLR7(p = 0.001;p = 0.047), TLR8(p = 0.002) and TLR10(p = 0.008) were negatively regulated, while TLR4(1552798_at)(p<0.0001) and TLR6(p = 0.019) were positively regulated in HPV-positive patients (p<0.05). The clinical significance of the variants was statistically significant for TLR1, TLR3, TLR6 and TLR8 in association with ethnicity. Genetic variants in different TLRs have been found in various ethnic populations. Variants of the TLR gene were of the following types: TLR1(5_prime_UTR), TLR4(start_lost), TLR8(synonymous;missense) and TLR10(3_prime_UTR). The "missense" variant was found to have a risk of its clinical significance being pathogenic in South Asian populations (OR = 56,820[95%CI:40,206,80,299]). CONCLUSION: The results of this study suggest that the variants found in the transcriptomes of different populations may lead to impairment of the functional aspect of TLRs that show significant gene expression in cervical cancer samples caused by HPV.

Humans↗
PubMed2026

The reporting and handling of missing data in genetic epidemiological studies of mental health in childhood and adolescence: A systematic review.

BACKGROUND: Genetic epidemiological analyses of child and adolescent mental health often use data from prospective longitudinal cohorts. Missingness due to selective attrition is therefore an important potential source of bias in such analyses. Informatively reporting on missingness and taking appropriate steps to handle it in analyses can mitigate this potential bias. Here, we aim to systematically assess how researchers report and address missingness in genetic epidemiological studies of child and adolescent mental health-related outcomes using cohort data. METHODS: We systematically searched the Ovid Medline database for studies published between August 2012 and August 2025, reporting polygenic score, genome-wide association, or Mendelian randomization analyses, of data on children or adolescents participating in cohort studies. We extracted information from eligible studies based on criteria adapted from the strengthening and reporting of observational studies in epidemiology (STROBE) guidelines. RESULTS: A total of 133 eligible studies were included, of which 125 (93.98%) reported the number of complete cases in all waves, while 84 (63.16%) detailed the amount of missingness on all key variables. Most studies used complete case analysis, while 39 studies explicitly reported applying other methods to handle missingness, with multiple imputation (n&#xa0;=&#xa0;20, 15.04%) being the most common, followed by full information maximum likelihood 10 (8.1%). Only 18 studies (13.53%) reported an assumed missing mechanism along with the method used to address missingness. Full reporting of both the extent and handling of missingness at the item level was rare, occurring in only 5 (3.76%) and 15 (11.28%) studies, respectively, among the 123 studies that used multi-item instruments. CONCLUSION: Best practice recommendations for reporting on missing data handling emphasize the importance of detailing the proportion of missingness, types of mechanisms underpinning missingness, and details of approaches used. Based on this review, these recommendations for proper reporting of missing data are rarely followed in full.

children and adolescents↗
PubMed1979

Genetic epidemiology and the prevention of functional mental disorders and alcoholism: family study and biological predictors.

1. This review intends to present some theoretical and practical considerations which appear essential for the development of rational research strategies in the field of primary and secondary prevention of mental disorders and alcoholism. 2. The various advances and trends regarding the nosology and diagnosis of these disorders are discussed. Integrative epidemiological models for relating the multifactorial causation and the heterogeneity (multidimensionality) of these disorders are presented. 3. It is emphasized that alcoholism and the functional mental disorders occur in families as shown by (i) the increased incidence of these disorders among relatives and (ii) the existence of various clinical categories genetically associated. 4. Current methodology in clinical diagnosis and genetic epidemiology represent powerful procedures for typing and subtyping of these disorders. Family studies could identify more homogeneous subgroups and generate hypotheses as to the mode of transmission of mental disorders and alcoholism. 5. Real progress could be made in prevention only if the search for predictors is carried out in homogeneous subgroups. 6. There is a lack of knowledge regarding biological predictors. An urgent need for association studies and linkage analysis should be carried out in order to identify genetic markers (causal relationship) and chromosomal markers. These could provide for the specification of a constellation of markers and the development of appropriate tests to identify subjects at risk likely to develop alcoholism and mental disorders. 7. The immediate issues in secondary prevention and the later outcomes in primary prevention are outlined.

Alcoholism↗
PubMed2026

Eating Disorders and Parkinson's Disease-2: Genetic Epidemiology and Shared Genomics.

OBJECTIVE: Individuals with anorexia nervosa (AN) share premorbid traits with Parkinson's Disease (PD) (e.g.,&#xa0;anxiety) and exhibit a two-fold relative risk of a reported family history of PD. Published estimates of intra- and inter-disorder genetic architecture were extracted and compared prior to conducting novel analyses to provide evidence for cross-disorder genetic risk. METHODS: National register or meta-analytic familial, twin, and common variant genome-wide studies were searched; estimates and findings were extracted and compared. Novel cross-disorder conditional and conjunctional false discovery rate analyses were performed. RESULTS: Sibling relative risks and additive genetic estimates of the two disorders were similar. AN had greater common variant heritability than PD whether measured via infinitesimal model (linkage disequilibrium score regression, LDSC) or causal mixture model (MiXeR). AN had greater polygenicity than PD (mean (SD) 2.50E-03 (1.64E-04) versus 2.72E-4 (1.47E-05), p&#xa0;<&#xa0;0.001), but lower discoverability than PD (4.20E-05 (2.69E-06) versus 1.40E-04 (6.95E-06), p&#xa0;<&#xa0;0.001). Global genetic correlation was significant (e.g.,&#xa0;bivariate LDSC rg&#xa0;=&#xa0;0.10, p&#xa0;=&#xa0;0.0033). Novel analyses identified cross-disorder enrichment, and cross-disorder risk at chr3p21.31. CONCLUSIONS: Cross-disorder AN and PD research identified shared risk variants at chr3p21.31, genes and mechanisms (e.g.,&#xa0;conditioning, fear, and reward) linked to a shared endophenotype.

Parkinson's disease↗
PubMed1978

The aetiology of Perthes' disease. Genetic, epidemiological and growth factors in 310 Edinburgh and Glasgow patients.

The aims of this survey were to establish the familial incidence of Perthes' disease, to note any associated developmental anomalies and to collect information on preceding trauma or synovitis, on the pregnancy and birth, and on various sociological factors. Height and weight measurements were obtained for 217 patients, and comparisons made with those of their parents, unaffected sibs and (local) controls. Results showed an extremely low frequency of Perthes' disease among relatives, with no obvious pattern of inheritance. As genetic factors were not apparent, environmental and sociological causes were sought. The disease occurred particularly in children who were third-born or later in the family, and had older than average parents. Many came from low-income families and one in ten had been a breech birth, shown other malposition or had had a version late in pregnancy. Many children were already undersized at the time of developing Perthes' disease and remained short than average throughout life. Neither their parents nor sibs were shorter than normal, indicating that the patients' short stature was not familial. The child who is going to develop Perthes' disease is already constitutionally and socially at a disadvantage, and during the perinatal period and the first few years of life is perhaps more susceptible to trauma than is a normal child.

Adult↗
PubMed1979

[Wilson's disease in the German Democratic Republic. I. Genetics and epidemiology].

The experiences of the central institution for Wilson's disease are reported. On the basis of 126 patients who come from 90 clans with 92 families the authors adopt a definite attitude to the problem of genetics, epidemiology and genetic family consultation. The unexceptional validity of the autosomal-recessive hereditary transmission may be confirmed. An incidence of 2.9/100,000 is assumed, from which a gene frequency of 0.53% and a frequency of heterozygotes of 1.05% can be estimated. The questions of the genetic background of polyphenia are discussed.

Age Factors↗
PubMed1978

Clues from genetic and epidemiologic studies.

There are clear indications that genetic variables influence the pathogenesis of SLE. The frequency of the disease in first-degree relatives of SLE subjects appears to be in the range of 1-2%, but this is in great excess relative to the frequency of SLE in the general population. The frequency of concordance of the disease in monozygotic twin pairs is in excess of 50%. The frequency of concordance of dizygotic twins may be no higher than that in other first-degree relatives. Data in twins support the conclusion that familial aggregation is due to genetic rather than to other familial factors. The high female-to-male ratio of patients with SLE may reflect sex hormonal influence on immunoreactivity rather than the genetic aspects of sex per se. The approximately threefold higher incidence of SLE in black subjects relative to white, in some studies, may reflect a heightened activity of the humoral immune system in blacks.

Antibodies, Antinuclear↗
PubMed1976

Primary angle-closure glaucoma. Oculometry, epidemiology, and genetics in a high risk population.

The ocular dimensions in patients suffering from primary angle-closure glaucoma (a.c.g.) have been studied in several clinical series, chiefly in Caucasians. The epidemiology and aetiology of a.c.g. are less well known although genetic factors seem to be involved. Eskimos have recently been shown to constitute a high risk population with respect to a.c.g. Consequently, a series of oculometric, epidemiologic, and genetic studies among Greenland Eskimos was undertaken. Besides the immediate purpose, prevention of blindness in this population, the survey had important general aspects and the following main results were obtained: 1a) Ocular dimensions, as well as clinical symptoms, in Eskimo a.c.g. patients correspond closely to those of a.c.g. reports from other ethnic groups and 1b) ocular dimensions of the anterior segment in the general Eskimo population deviate conspicuously towards the low level characteristic of all samples of a.c.g. patients. 2) A.c.g. prevalence rates were estimated at 1.6% in males and 5.1% in females of the general population aged 40 years or more. The epidemiology of a.c.g. seems to reflect closely the variations of axial anterior chamber depth (ACD) according to race (Eskimo, Caucasian), sex and age. Empirical a.c.g. risk estimates, depending on the ACD value, were obtained in elderly females. 3) A relatively shallow chamber was found in 1st and 2nd degree relatives of a.c.g. patients, in close agreement with an earlier study in Caucasians (Törnquist 1953). However, also in the general Eskimo population a pronounced familial resemblance with respect to ACD and corneal diameter was found. Thus the family studies indicate that the size of the anterior chamber shows a mainly genetic determination, which probably constitutes the genetic basis of a.c.g. as well. With this background a hypothesis is discussed, which interprets the small anterior chambers in Eskimos as a result of genetic adaptation to arctic environment. Corneal protection may have been the significant advantage and the a.c.g. load in elderly persons a relatively less important cost.

Adolescent↗
PubMed2026

Functional Variant Discovery Identifies a Novel Genetic Link between SPRY2, Wood Smoke, and Asthma.

As a consequence of climate change and land-use policies, there has been a historic rise in wildfire smoke across the United States and the world. Although the deleterious effects of wildfire smoke and associated air pollution on asthma outcomes are established epidemiologically, genetic risks and molecular mechanisms of how wildfire smoke affects asthma are unknown. This knowledge gap hinders the identification of high-risk individuals and the creation of targeted therapies or recommendations to protect these individuals. We identified 52 genetic risk variants that colocalized with genomic responses to woodsmoke particles (WSPs), a model of wildfire particulate matter, and associated with asthma in the GERA (Genetic Epidemiology Research on Adult Health and Aging) cohort. We used additional filters to prioritize variants for direct testing of allele-dependent transcriptional regulatory function in plasmid reporters. We found that the rs3861144 variant (odds ratioasthma, 1.036) changes SPRY2 responses to WSPs in airway epithelial cells, which are involved in IL-8 secretion, ERK (extracellular signal-related kinase) activation, and mechanical scratch repair in cell culture. These findings provide insights into the molecular pathways through which WSPs may influence asthma risk and propose genetic candidates that warrant further study for their potential as clinical tools for asthma.

Asthma↗
PubMed1978

The epidemiology and genetics of antibiotic resistance of Salmonella typhimurium isolated from diseases animals in New York.

Only 12% of 249 strains of Salmonella typhimurium isolated during the period 1973-1976 from diseased animals were sensitive to six commonly used antibiotics. Isolates from calves exhibited the highest frequency of resistance as well as a steadily increasing frequency of resistance to ampicillin and chloramphenicol. The majority of strains from horses, dogs, and cats were also resistant to more than one antibiotic, a finding which was interpreted as primarily an effect of therapeutic rather than of growth-promoting use of antibiotics in these species. Ninety-one percent of resistant strains possessed transferable resistance. In 31% of these strains, the transfer factors were heat-sensitive and did not function at 37 C. The determinant of resistance to ampicillin was usually associated with a non-heat-sensitive transfer factor, whereas resistance to chloramphenicol, kanamycin, and tetracycline was more commonly associated with heat-sensitive transfer factors. Strains of S. typhimurium with similar patterns of resistance often contained different plasmids. There was more genetic homogeneity among determinants of resistance to tetracycline than among other determinants.

Ampicillin↗
PubMed1979

Ureolytic Escherichia coli of human origin: serological, epidemiological, and genetic analysis.

Forty-five strains of ureolytic Escherichia coli of human origin, isolated in the United States between 1956 and 1977, were characterized by geographical distribution, site of infection, serotype, resistance to antibiotics, and biochemical reactions. All strains were studied for the ability to generate clones of nonureolytic E. coli (segregants), and a subset of these were selected for plasmid analysis and a variety of bacterial matings. There did not appear to be a common geographical distribution, serotype, antibiogram, or other aberrant biochemical reactions other than the hydrolysis of urea among these strains. The predominance of urinary tract isolates (46.7% total) may reflect a relationship between urea hydrolysis and pathogenesis at this site. Ten of the strains (22.2%) did segregate nonureolytic E. coli colonies, and all possessed at least one common plasmid species with a molecular weight of about 65 X 10(6). Only strain 1138-77 serotype O16:H6 conjugally transfered the ability to hydrolyze urea, ferment sucrose, and resist inhibition by sulfadiazide simultaneously. The resulting, recombination-deficient E. coli K-12 tranconjugant was found to possess a plasmid with a molecular weight of about 80 X 10(6) to 90 X 10(6).

Anti-Bacterial Agents↗