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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↗
PubMed1978

Genetic epidemiology of an institutionalized cohort of mental retardates.

By criterion scaling and principal component analysis of performance, social class, symptoms, institutionalization, and medical history, a cohort of mental defectives has been divided into medical, biological, and sociofamilial categories. This division, corresponding to differences in etiology and severity, reveals changing patterns of admission and provides evidence that male excess is not primarily due to sex linkage. The incidence of mental retardation increases about 5% with first-cousin marriage, in agreement with other studies. The decline of IQ with inbreeding appears to be due entirely to rare recessive genes, not to dominance deviations of polygenes.

Consanguinity↗
PubMed1977

Clozapine-induced agranulocytosis. A genetic and epidemiologic study.

An epidemic of agranulocytosis and granulocytopenia occurred in 1975 in conjunction with clozapine treatment of mental patients in Finland. An attempt was made to assess the epidemiologic and genetic factors contributing to the adverse drug effect. The estimated incidence rate in Finland was 2.1/1000 patient-months. This figure could not be compared with rates from other countries because of the inexact nature of the figures reported so far. All 16 cases occurred in seven hospitals in southwestern Finland, whereas the overall hospital net use of the drug was geographically evenly distributed. The difference between the observed and the proportionally expected incidence of cases amongst the hospitals where clozapine was used was statistically significant. The average consumption of the drug did not differ between the hospitals where cases occurred and those where no definite cases could be diagnosed. Six-generation pedigree analyses failed to reveal significant parental consanguinity or genetic kinship between probands. Neither did the birth places of the ancestors of the probands disclose a typical isolate pattern. In conclusion, the cases appeared to be confined to a few hospitals in southwestern Finland. Although a genetic factor is not excluded, we found no evidence in support of a genetic mechanism.

Agranulocytosis↗
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↗
PubMed1977

A genetic and epidemiologic study of periodontal disease in Hawaii. II. Genetic and environmental influence.

In order to determine the relative influence of genetic and environmental factors in periodontal disease, path analysis has been applied to 241 nuclear families. Common family environment was represented by an index. The data failed to detect significant heritability, and common family environment proved to be a major determinant in the variation of periodontal health.

Adolescent↗
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↗