Search results for "Predisposition"
showing 10 items of 771 documents
Identifying gene-environment interactions in schizophrenia: contemporary challenges for integrated, large-scale investigations
2014
European Community Recent years have seen considerable progress in epidemiological and molecular genetic research into environmental and genetic factors in schizophrenia, but methodological uncertainties remain with regard to validating environmental exposures, and the population risk conferred by individual molecular genetic variants is small. There are now also a limited number of studies that have investigated molecular genetic candidate gene-environment interactions (G x E), however, so far, thorough replication of findings is rare and G x E research still faces several conceptual and methodological challenges. in this article, we aim to review these recent developments and illustrate h…
Vēža ģenētiskās testēšanas laboratorijas izveide Rīgā
2016
Onkoloģiskā saslimšana ir mūsdienās viena no smagākajām diagnozēm, no kuras ik gadu mirst liels cilvēku skaits pasaulē un Latvijā. Katru gadu pieaug pacientu skaits, kuriem ir diagnosticēts kāds no ļaundabīgā audzēja veidiem. Onkoloģijas pacienti ir visas pasaules mēroga problēma, un arī Latvijā vēža pacientu skaita pieaugums ir epidēmijas līmenī pašlaik. Diemžēl Latvijā ir novērojama tendence, ka vēzis tiek diagnosticēts vēlajās tā stadijās. Vēža diagnosticēšana tā agrākajā stadijā nozīmē pacienta dzīvildzes rādītāju pagarinājumu vai pat slimības remisiju. Vēža ģenētika sniedz visaptverošu informāciju par vēža slimības attīstību, tās iespējamajām lokācijām un daudzos gadījumos ar ģenētiskā…
Long-term effects of the home literacy environment on reading development: Familial risk for dyslexia as a moderator.
2021
This study aimed to gain better understanding of the associations between literacy activities at home and long-term language and literacy development. We extended the home literacy environment (HLE) model of Sénéchal and LeFevre (Child Development [2002], Vol. 73, pp. 445–460) by including repeated assessments of shared reading, oral language, and reading comprehension development, including examination of familial risk for dyslexia as a moderator, and following development over time from ages 2 to 15 years. Of the 198 Finnish participants, 106 have familial risk for dyslexia due to parental dyslexia. Our path models include development in vocabulary (2–5.5 years), emerging literacy (5.5 ye…
Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an "FCS score".
2018
Familial chylomicronaemia syndrome (FCS) is a rare, inherited disorder characterised by impaired clearance of triglyceride (TG)-rich lipoproteins from plasma, leading to severe hypertriglyceridaemia (HTG) and a markedly increased risk of acute pancreatitis. It is due to the lack of lipoprotein lipase (LPL) function, resulting from recessive loss of function mutations in the genes coding LPL or its modulators. A large overlap in the phenotype between FCS and multifactorial chylomicronaemia syndrome (MCS) contributes to the inconsistency in how patients are diagnosed and managed worldwide, whereas the incidence of acute hypertriglyceridaemic pancreatitis is more frequent in FCS. A panel of Eu…
Social Interactions of Dat-Het Epi-Genotypes Differing for Maternal Origins: The Development of a New Preclinical Model of Socio-Sexual Apathy
2021
Social interaction is essential for life but is impaired in many psychiatric disorders. We presently focus on rats with a truncated allele for dopamine transporter (DAT). Since heterozygous individuals possess only one non-mutant allele, epigenetic interactions may unmask latent genetic predispositions. Homogeneous “maternal” heterozygous offspring (termed MAT-HET) were born from dopamine-transporter knocked-out (DAT-KO) male rats and wild-type (WT) mothers
Type 1 Diabetes and Autoimmune Thyroid Disease—The Genetic Link
2021
Type 1 diabetes (T1D) and autoimmune thyroid disease (AITD) are the most frequent chronic autoimmune diseases worldwide. Several autoimmune endocrine and non-endocrine disorders tend to occur together. T1D and AITD often cluster in individuals and families, seen in the formation of autoimmune polyendocrinopathy (AP). The close relationship between these two diseases is largely explained by sharing a common genetic background. The HLA antigens DQ2 (DQA1*0501-DQB1*0201) and DQ8 (DQA1*0301-DQB1*0302), tightly linked with DR3 and DR4, are the major common genetic predisposition. Moreover, functional single nucleotide polymorphisms (or rare variants) of various genes, such as the cytotoxic T-lym…
Comparative evolution of P–M system and infection by the sigma virus in French and Spanish populations ofDrosophila melanogaster
1992
SummaryIn 1983, an extensive survey of populations ofD. melanogasterwas started in a southern French region (Languedoc) in two non-Mendelian systems: the P–M system of transposable elements and the hereditary Rhabdovirus sigma. Unexpectedly fast-evolving phenomena were observed and interesting correlations were noted, giving similar geographical pattern to the region in both systems. For these reasons, the analysis was continued and extended towards the north (Rhône Valley) and the south (Spain). In the P–M system, all the Languedoc populations evolved from 1983 to 1991 towards the Q type which is characteristic of the Rhône Valley populations. In contrast, M′ strains are currently observed…
Psoriasis and Inflammatory Bowel Disease.
2018
<b><i>Background:</i></b> Inflammatory bowel disease (IBD) and psoriasis (PS) are associated conditions. The reason for this association lies in the sharing of predisposition genes and common immunological mechanisms. <b><i>Summary:</i></b> This review will focus on the interplay between IBD and PS, with details on prevalence and phenotype of PS in IBD, genetics, pathogenetic pathways, and therapy. <b><i>Key Messages:</i></b> Microbiome seems relevant in both conditions: a reduction of beneficial bacteria has been observed. IBD and PS have in common some comorbidities like cardiovascular disease, similar risk of cancer …
The new world of human genetic technologies: The policy environment and impacts of genetic screening tests
1995
Today it is possible to screen for mutated DNA sequences which do not induce any diseases but predispose to develop diseases under certain environmental condition. These latter disorders are called “multifactorial” since they result from the interplay of genetic and environmental factors. Among multifactorial disorders there are job-related diseases whose genetic component can be identified by genetic screening tests. The use of these tests to predict occupational disorders, to cut down on them, and to save costs—in particular for absenteeism, health care, and lawsuits—is of interest to employers and insurers. As for employees, it could entail an extremely deep invasion of privacy, economic…
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Data…
2021
Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic …