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Multifactorial Disease (multifactorial + disease)
Selected AbstractsUnraveling the Genetic Component of Multifactorial Diseases: Dream or RealityINTERNATIONAL STATISTICAL REVIEW, Issue 1 2000F. Clerget-Darpoux Summary The etiology of many human diseases is complex and very likely involves a combination of genetic and environmental risk factors. A popular strategy to detect genetic risk factors is to perform a systematic screening of the genome searching for linkage. The power of such and approach depends very much on the unknown characteristics of the genetic factors and the main difficulty is to establish a good trade-off between false positives and false negatives. Besides, a precise localisation of the risk factor will generally not be obtained. The set up of a candidate gene stratery is necessary to go further in genetic factor identification. It is likely that for multicfactorioal diseases the only genetic risk factors that can be detected are those with fairly strong effect. Even in that case, it is important to design strategies which increase the power of detection and provide for a better evaluation of the associated risks. Résumé La majorité des maladies humaines ont une étiologic complexe et résultent, de I'interaction de facteurs génétiques, etd' environnment. Une stratégic, populaire pour détecter; des cacteurs de risque est la recherche systématique, de liaison sur le génome. La puissance d' une telle approch dépend essentiellement des caractéristiques, inconnues des facteurs génétiques, et la difficultéprincipale est d'établir un bon cornpromis entre faux positifs et faux négatifs. PPar ailleurs, elle ne permet généralement pas de locatiser de facon préciseles facteurs génétiques, impliqués. La misc en place d'une stratégic, de géne candidat est nécessaire pour avancer vers I; identificatin d' un facteur de risque génétique. IIest vraisemblable que pour les maladies multifactorielles, seuls les facteurs ayant un effet immportant pourront étre, détecté. Méme, dans ce cas, il est important de mettre enpalce des stratégies, qui donnent une pussance maximum de détection, et permettent d' évaluer au mieux les risques associés. [source] Maternal environment affects endogenous virus induction in the offspring of type 1 diabetes model non-obese diabetic miceCONGENITAL ANOMALIES, Issue 3 2005Yukiko Kagohashi ABSTRACT Type 1 diabetes results from the destruction of pancreatic b-cells (insulitis). It is a multifactorial disease involving genetic and environmental factors, including the maternal environment. Viruses have also been implicated in the pathogenesis of human type 1 diabetes as well as in its model non-obese diabetic (NOD) mice during the perinatal period, as endogenous viruses and/or as infectious agents vertically transmitted from mothers. However, the role of virus as genetic or environmental factor and its interaction with other maternal factors remain unclear. In a series of experiments, we transplanted preimplantation-stage NOD embryos into the uterus of recipient Institute of Cancer Research (ICR) mice, which are without diabetic genetic predisposition, and NOD mice, which did not exhibit overt diabetes during the experiment, and designated offspring as NOD/ICR and NOD/NOD, respectively. We previously observed that NOD/ICR offspring developed insulitis significantly earlier than NOD/NOD offspring. To assess the role of viruses in the development of insulitis, we examined the appearance of viral particles and expression of retroviruses between NOD/ICR and NOD/NOD. NOD/ICR showed earlier expression of env region of the xenotropic type C retrovirus by polymerase chain reaction analysis than NOD/NOD, while the retrovirus-like particles were observed in the islet b-cells similarly in both groups by electron microscopy. Serum corticosterone level, which is suggested to enhance retroviral induction, was significantly higher in the ICR than in the NOD surrogate mothers. These findings suggest that the observed virus is endogenous and that maternal environmental factors, including hormone levels, affect the induction of endogenous viruses and cause the earlier onset of insulitis. [source] Prevention of Type 2 diabetes mellitus.DIABETIC MEDICINE, Issue 5 2004A review of the evidence, its application in a UK setting Abstract Type 2 Diabetes mellitus (T2DM) is a complex metabolic, multifactorial disease, which affects the quality, quantity and style of life. People with T2DM have a life expectancy that can be shortened by as much as 15 years, with up to 75% dying of macrovascular complications. To reduce the impact of T2DM in the 21st century, we need an approach that not only optimally treats the person with established diabetes but also prevents diabetes from occurring in the first place. The best evidence for prevention of diabetes is for interventions that target individuals at highest risk. Targeting patients who have impaired glucose tolerance with lifestyle changes including physical activity and dietary factors has been shown to be effective in the Chinese, North American and Finnish populations. In order for such lifestyle interventions to be successful in other populations, they need to be culturally sensitive, individualized and sustained. Some pharmacological agents including metformin and acarbose have also been shown to be effective, although the profile of those who respond is different. There continues to be a need to develop and evaluate interventions that target communities and populations at risk in a UK setting. Diabet. Med. (2004) [source] Lack of association between the G-2548A polymorphism of the leptin gene and psoriasis in a Turkish populationINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 12 2007Nurten Kara PhD Background,, Psoriasis is a multifactorial disease in which genetic and inflammatory factors play important roles. Leptin is classified as a cytokine and plays an important role in the regulation of the T-helper response. A common polymorphism in the promoter of the human leptin gene (G-2548A) may have a role in the pathogenesis of psoriasis. Aim, To investigate the association between psoriasis and leptin gene polymorphism (G-2548A). Methods, The study involved 109 patients with psoriasis and 125 healthy controls. Analyses of G-2548A polymorphism of the leptin gene were made by the polymerase chain reaction-restriction fragment length polymorphism technique. The genotypes (GG, GA, and AA of leptin gene G-2548A) and alleles (G and A) were scored and the frequencies were estimated. The frequencies of alleles and genotypes in patients and controls were compared. The relationship between leptin gene polymorphism and the clinical features of the patients was analyzed. Results, Both genotype [odds ratio (OR), 0.921; 95% confidence interval (CI), 0.501,1.694; P = 0.792] and allele (OR, 0.864; 95% CI, 0.600,1.242; P = 0.429) frequencies were not significantly different between patient and control groups. In addition, there was no significant association between genotype and allele frequencies and the clinical characteristics of psoriasis. Conclusion, In this case,control study, no evidence of association between the G-2548A variant of the leptin gene and psoriasis was found. [source] CADISP-genetics: an International project searching for genetic risk factors of cervical artery dissectionsINTERNATIONAL JOURNAL OF STROKE, Issue 3 2009S. Debette Background Cervical artery dissection (CAD) is a frequent cause of ischemic stroke, and occasionally death, in young adults. Several lines of evidence suggest a genetic predisposition to CAD. However, previous genetic studies have been inconclusive mainly due to insufficient numbers of patients. Our hypothesis is that CAD is a multifactorial disease caused by yet largely unidentified genetic variants and environmental factors, which may interact. Our aim is to identify genetic variants associated with an increased risk of CAD and possibly gene,environment interactions. Methods We organized a multinational European network, Cervical Artery Dissection and Ischemic Stroke Patients (CADISP), which aims at increasing our knowledge of the pathophysiological mechanisms of this disease in a large group of patients. Within this network, we are aiming to perform a de novo genetic association analysis using both a genome-wide and a candidate gene approach. For this purpose, DNA from approximately 1100 patients with CAD, and 2000 healthy controls is being collected. In addition, detailed clinical, laboratory, diagnostic, therapeutic, and outcome data are being collected from all participants applying predefined criteria and definitions in a standardized way. We are expecting to reach the above numbers of subjects by early 2009. Conclusions We present the strategy of a collaborative project searching for the genetic risk factors of CAD. The CADISP network will provide detailed and novel data on environmental risk factors and genetic susceptibility to CAD. [source] E-selectin and L-selectin polymorphisms in patients with periodontitisJOURNAL OF PERIODONTAL RESEARCH, Issue 1 2009B. Houshmand Background amd Objective:, Periodontitis is a multifactorial disease in which environmental and genetic determinant factors contribute to individual subject's susceptibility. A DNA polymorphism in the regulating region of adhesion molecule genes is suggested to modulate the molecule's physiological effects. The aim of this study was to investigate the genetic association between the E-selectin Ser128Arg and L-selectin Phe206Leu polymorphisms and periodontitis. Material and Methods:, DNA was isolated from the whole blood of 88 patients with periodontitis and 139 healthy individuals. All samples were genotyped for the E-selectin Ser128Arg and L-selectin Phe206Leu polymorphisms using the polymerase chain reaction with sequence specific primers. Results:, Our findings revealed a significant difference in the Ser128Arg polymorphism of E-selectin, but not in the L-selectin polymorphism, between periodontal patients and controls. The 128Arg allele was present more frequently in patients than in healthy individuals (31.25% vs. 12.2%, p < 0.0001). In addition, there was an association between the presence of the 128Arg allele and periodontitis (odds ratio 2.9; 95% confidence interval: 1.75,4.4, p < 0.0001). No significant association was found between the polymorphisms tested and the subgroups of periodontal disease (i.e. chronic periodontitis and aggressive periodontitis). Conclusion:, The findings of this study showed that the Ser128Arg polymorphism of E-selectin might contribute to the susceptibility of Iranian individuals to periodontitis. [source] Birch pollen allergen Bet v 1 binds to and is transported through conjunctival epithelium in allergic patientsALLERGY, Issue 6 2009J. Renkonen Background:, Previous work in type-I pollen allergies has mainly focused on lymphocytes and immune responses. Here, we begin to analyse with a systems biology view the differences in conjunctival epithelium obtained from healthy and allergic subjects. Methods:, Transcriptomics analysis combined with light and electron microscopic analysis of birch pollen allergen Bet v 1 located within conjunctival epithelial cells and tissues from birch allergic subjects and healthy controls was carried out. Results:, Bet v 1 pollen allergen bound to conjunctival epithelial cells within minutes after the exposure even during the nonsymptomatic winter season only in allergic, but not in healthy individuals. Light- and electron microscopy showed that Bet v 1 was transported through the epithelium within lipid rafts/caveolae and reached mast cells only in allergic patients, but not in healthy individuals. Transcriptomics yielded 22 putative receptors expressed at higher levels in allergic epithelium compared with healthy specimens. A literature search indicated that out of these receptors, eight (i.e. 37%) were associated with lipid rafts/caveolae, which suggested again that Bet v 1 transport is lipid raft/caveola-dependent. Conclusions:, We show a clear difference in the binding and uptake of Bet v 1 allergen by conjunctival epithelial cells in allergic vs healthy subjects and several putative lipid raft/caveolar receptors were identified, which could mediate or be co-transported with this entry. The application of discovery driven methodologies on human conjunctival epithelial cells and tissues can provide new hypotheses worth a further analysis to the molecular mechanisms of a complex multifactorial disease such as type-I birch pollen allergy. [source] The dietetic treatment of obesityPRACTICAL DIABETES INTERNATIONAL (INCORPORATING CARDIABETES), Issue 9 2001Alison H. Beattie BSc Hons, SRD Senior Dietitian Abstract Obesity has a direct, proportional link to morbidity and mortality, and despite the proven medical benefits of weight loss treatment failure rates are high. Historical approaches to weight management within the health service have focused solely on dietary issues. It is now widely accepted that dietary advice given in isolation is ineffective in inducing and sustaining significant weight loss. Obesity is a complex, multifactorial disease and any successful weight management programme should provide tailored dietary advice and facilitate permanent behavioural and lifestyle change. In addition, realistic goals (10% body weight loss) should be recommended. Exercise and physical activity suggested should be geared to individual capabilities. This article addresses how dietitians are treating obesity and what factors other than traditional diet sheets are essential components of a weight management programme. Copyright © 2001 John Wiley & Sons, Ltd. [source] Chronic prostatitis and male accessory gland infection , is there an impact on male infertility (diagnosis and therapy)?ANDROLOGIA, Issue 5 2003K. Everaert Summary. The aim of this article was to discuss by means of a review of the literature and own study material the multifactorial aetiology of male infertility, extrapolate this hypothesis to male accessory gland infection (MAGI) and relate it to chronic prostatitis and its treatment. Infertility is a multifactorial disease and diagnosis and therapy must be oriented as such. Although the relationship between prostatitis and infertility remains unclear, bacteria, viruses, leucocytes, reactive oxygen species, cytokines, obstruction and immunological abnormalities must be seen as cofactors in the development of infertility in patients with MAGI and prostatitis. Infection, trauma, allergy, neurogenic damage, chemical or mechanical factors can lead to a long-lasting inflammation of the prostate or pelvic organs even after eradication of the aetiological agent, and is potentially related to infertility through cytokines. In relation to treatment of infertility, antibiotics play a role in bacterial prostatitis whereas in abacterial prostatitis other treatments like antioxidants, sacral nerve stimulation and anti-inflammatory treatment are worth to be studied in the future. [source] Epidemiology, clinical presentation and diagnosis of onychomycosisBRITISH JOURNAL OF DERMATOLOGY, Issue 2003J. Faergemann Summary Onychomycosis is a common nail disease, responsible for up to 50% of diseases of the nail. The distribution of different pathogens is not uniform; it depends on various factors such as climate, geography and migration. However, studies have revealed that two dermatophytes, Trichophyton rubrum and Trichophyton mentagrophytes, account for more than 90% of onychomycoses. Onychomycosis can be divided into four major clinical presentations: distal subungal (the most common form of the disease), proximal subungal (the most common form found in patients with human immunodeficiency virus infection), and superficial and total dystrophic onychomycosis. Onychomycosis is a multifactorial disease. Age has a very important effect on the occurrence of onychomycosis, with a correlation between increasing age and infection. Genetics has also been identified as a factor governing the epidemiology of onychomycosis; T. rubrum infection shows a familial pattern of autosomal dominant inheritance. Disease and lifestyle may also play a role in the epidemiology of fungal nail infections. Studies have shown that diabetes, acquired immunodeficiency syndrome and peripheral arterial disease may be independent predictors of onychomycosis. Because of the multifactorial nature of the epidemiology, accurate diagnosis, pertinent treatment and patient education must be paramount when treating the disease. [source] Venous thromboembolism associated with the management of acute thrombotic thrombocytopenic purpuraBRITISH JOURNAL OF HAEMATOLOGY, Issue 5 2003Helen Yarranton Summary. Venous thromboembolism (VTE) is not a feature of thrombotic thrombocytopenic purpura (TTP), but there has been a recent report of VTE in association with plasma exchange (PEX) treatment for TTP using the solvent detergent (SD) plasma, PLAS+®SD. We reviewed the occurrence of VTE in 68 consecutive patients with TTP (25 men, 43 women). Eight documented VTE events [six deep venous thromboses (DVTs), three pulmonary emboli] were identified in seven patients (all female) during PEX therapy. All six DVTs were associated with central lines at the site of thrombosis. Other known precipitating factors included pregnancy, immobility, obesity and factor V Leiden heterozygosity. VTE occurred at a mean of 53 d following the first PEX. The European SD plasma, Octaplas® was the last plasma to be used in PEX prior to the VTE in 7/8 events. This is the first report of VTE following Octaplas® infusion. VTE is a multifactorial disease and, although several known precipitating factors were present in all patients in this study, the use of large volumes of SD plasma in PEX may be an additional risk factor. We recommend prevention of VTE with graduated elastic compression stockings (class I) at diagnosis and prophylactic low-molecular-weight heparin once the platelet count rises above 50 × 109/l. [source] Erectile Dysfunction in High-Risk Hypertensive Patients Treated with Beta-Blockade AgentsCARDIOVASCULAR THERAPEUTICS, Issue 1 2010Alberto Cordero Background: Erectile dysfunction (ED) is a multifactorial disease related to age, vascular disease, psychological disorders, or medical treatments. Beta-blockade agents are the recommended treatment for hypertensive patients with some specific organ damage but have been outlined as one of leading causes of drug-related ED, although differences between beta-blockade agents have not been assessed. Methods: Cross-sectional and observational study of hypertensive male subjects treated with any beta-blockade agent for at least 6 months. ED dysfunction was assessed by the International Index of Erectile Dysfunction (IIEF). Results: 1.007 patients, mean age 57.9 (10.59) years, were included. The prevalence of any category of ED was 71.0% (38.1% mild ED; 16.8% moderate ED; 16.1% severe ED). Patients with ED had longer time since the diagnosis of hypertension and higher prevalence of risk factors and comorbidities. The prevalence of ED increased linearly with age. ED patients received more medications and were more frequently treated with carvedilol and less frequently with nebivolol. Patients treated with nebivolol obtained higher scores in every parameter of the IIEF questionnaire. The multivariate analysis identified independent associations between ED and coronary heart disease (OR: 1.57), depression (OR: 2.25), diabetes (OR: 2.27), atrial fibrillation (OR: 2.59), and dyhidopiridines calcium channel blockers (OR: 1.76); treatment with nebivolol was associated to lower prevalence of ED (OR: 0.27). Conclusion: ED is highly prevalent in hypertensive patients treated with beta-blockade agents. The presence of ED is associated with more extended organ damage and not to cardiovascular treatments, except for the lower prevalence in nebivolol-treated patients. [source] A comprehensive review of biomarkers in psoriasisCLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 6 2009R. Rashmi Summary Psoriasis is a common, chronic skin disorder, the pathogenesis of which is incompletely understood. Results from various clinical and experimental studies indicate that psoriasis is a complex, multifactorial disease with a genetic predisposition. Factors such as climate, physical trauma, drug, stress and infections (Streptococcus, human immunodeficiency virus) are known to trigger psoriasis. The success of treatment of psoriasis with T-cell depletion and antitumour necrosis factor (TNF)-, treatment is explained by the involvement of T cells and TNF- , in the pathogenesis of psoriasis. The biochemical basis for the pathogenesis of psoriasis can be attributed to both overexpression and underexpression of certain proteins in psoriatic lesions. The anomalies in protein expression can be classified as abnormal keratinocyte differentiation, keratinocyte hyperproliferation and inflammation. Oxidative stress (OS) and increased free-radical generation have been linked to skin inflammation in psoriasis. The review presents evidence for various markers of psoriasis that can be targeted for effective treatment, including biomarkers of inflammation, keratinocyte hyperproliferation and abnormal differentiation, and stress. [source] Gene therapy and enhancement for diabetes (and other diseases): the multiplicity of considerationsDIABETES/METABOLISM: RESEARCH AND REVIEWS, Issue 7 2010Marta Bertolaso Abstract Gene therapy has reached the forefront of studies and research over the last 30 years because of its potential for curing, treating, and preventing diseases associated with DNA mutations. Type 1 and type 2 diabetes are two examples of very common polygenic and multifactorial diseases. The huge amount of scientific literature on this topic reflects a growing general interest in the possibilities of altering our genetic heritage and thus controlling the onset of diseases associated with mutations and relative risk factors. We have focussed on the new treatment opportunities and possibility of enhancing an individual's health, physical well-being, and even an individual's behaviour through technologies specially designed for therapeutic purposes, which have been presented in literature. This historical perspective shows how this type of research, however, was immediately subjected to an ethical evaluation, especially regarding the decoding of the human genome and the questions raised by the alteration of our genetic heritage through new biotechnologies. Moreover, understanding the limitations of gene therapy protocol experiments and the multifactorial nature of many diseases, which have a genetic base, also contributes to these considerations. Copyright © 2010 John Wiley & Sons, Ltd. [source] Calcium ions in neuronal degenerationIUBMB LIFE, Issue 9 2008Urszula Wojda Abstract Neuronal Ca2+ homeostasis and Ca2+ signaling regulate multiple neuronal functions, including synaptic transmission, plasticity, and cell survival. Therefore disturbances in Ca2+ homeostasis can affect the well-being of the neuron in different ways and to various degrees. Ca2+ homeostasis undergoes subtle dysregulation in the physiological ageing. Products of energy metabolism accumulating with age together with oxidative stress gradually impair Ca2+ homeostasis, making neurons more vulnerable to additional stress which, in turn, can lead to neuronal degeneration. Neurodegenerative diseases related to aging, such as Alzheimer's disease, Parkinson's disease, or Huntington's disease, develop slowly and are characterized by the positive feedback between Ca2+ dyshomeostasis and the aggregation of disease-related proteins such as amyloid beta, alfa-synuclein, or huntingtin. Ca2+ dyshomeostasis escalates with time eventually leading to neuronal loss. Ca2+ dyshomeostasis in these chronic pathologies comprises mitochondrial and endoplasmic reticulum dysfunction, Ca2+ buffering impairment, glutamate excitotoxicity and alterations in Ca2+ entry routes into neurons. Similar changes have been described in a group of multifactorial diseases not related to ageing, such as epilepsy, schizophrenia, amyotrophic lateral sclerosis, or glaucoma. Dysregulation of Ca2+ homeostasis caused by HIV infection or by sudden accidents, such as brain stroke or traumatic brain injury, leads to rapid neuronal death. The differences between the distinct types of Ca2+ dyshomeostasis underlying neuronal degeneration in various types of pathologies are not clear. Questions that should be addressed concern the sequence of pathogenic events in an affected neuron and the pattern of progressive degeneration in the brain itself. Moreover, elucidation of the selective vulnerability of various types of neurons affected in the diseases described here will require identification of differences in the types of Ca2+ homeostasis and signaling among these neurons. This information will be required for improved targeting of Ca2+ homeostasis and signaling components in future therapeutic strategies, since no effective treatment is currently available to prevent neuronal degeneration in any of the pathologies described here. © 2008 IUBMB IUBMB Life, 60(9): 575,590, 2008 [source] Time-series nasal epithelial transcriptomics during natural pollen exposure in healthy subjects and allergic patientsALLERGY, Issue 2 2010P. Mattila To cite this article: Mattila P, Renkonen J, Toppila-Salmi S, Parviainen V, Joenväärä S, Alff-Tuomala S, Nicorici D, Renkonen R. Time-series nasal epithelial transcriptomics during natural pollen exposure in healthy subjects and allergic patients. Allergy 2010; 65: 175,183. Abstract Background:, The role of epithelium has recently awakened interest in the studies of type I hypersensitivity. Objective:, We analysed the nasal transcriptomics epithelial response to natural birch pollen exposure in a time series manner. Methods:, Human nasal epithelial cell swabs were collected from birch pollen allergic patients and healthy controls in winter season. In addition, four specimens at weekly intervals were collected from the same subjects during natural birch pollen exposure in spring and transcriptomic analyses were performed. Results:, The nasal epithelium of healthy subjects responded vigorously to allergen exposure. The immune response was a dominating category of this response. Notably, the healthy subjects did not display any clinical symptoms regardless of this response detected by transcriptomic analysis. Concomitantly, the epithelium of allergic subjects responded also, but with a different set of responders. In allergic patients the regulation of dyneins, the molecular motors of intracellular transport dominated. This further supports our previous hypothesis that the birch pollen exposure results in an active uptake of allergen into the epithelium only in allergic subjects but not in healthy controls. Conclusion:, We showed that birch pollen allergen causes a defence response in healthy subjects, but not in allergic subjects. Instead, allergic patients actively transport pollen allergen through the epithelium to tissue mast cells. Our study showed that new hypotheses can arise from the application of discovery driven methodologies. To understand complex multifactorial diseases, such as type I hypersensitivity, this kind of hypotheses might be worth further analyses. [source] Pathophysiologic mechanisms of persistent pulmonary hypertension of the newbornPEDIATRIC PULMONOLOGY, Issue 6 2005S. Dakshinamurti MD Abstract Persistent pulmonary hypertension of the newborn (PPHN), among the most rapidly progressive and potentially fatal of vasculopathies, is a disorder of vascular transition from fetal to neonatal circulation, manifesting as hypoxemic respiratory failure. PPHN represents a common pathway of vascular injury activated by numerous perinatal stresses: hypoxia, hypoglycemia, cold stress, sepsis, and direct lung injury. As with other multifactorial diseases, a single inciting event may be augmented by multiple concurrent/subsequent phenomena that result in differing courses of disease progression. I review the various mechanisms of vascular injury involved in neonatal pulmonary hypertension: endothelial dysfunction, inflammation, hypoxia, and mechanical strain, in the context of downstream effects on pulmonary vascular endothelial-myocyte interactions and myocyte phenotypic plasticity. © 2005 Wiley-Liss, Inc. [source] Multiple sclerosis and virusesANNALS OF NEUROLOGY, Issue 1 2010Michel Brahic MD Discussing the problem of multiple sclerosis and viruses should not be limited to reviewing the epidemiological evidence in favor, or against, a particular candidate, such as Epstein-Barr virus or human herpes virus 6. In this text, I discuss the difficulty of going from association to causation in human epidemiology; the fact that viruses can trigger or prevent autoimmunity; the problem of our very limited knowledge of the viruses that we harbor as part of our metagenome; and the role of such viral flora in multifactorial diseases and also, possibly, in health. ANN NEUROL 2010;68:6,8 [source] Delayed clearance of fetal lung liquid and sodium transport,genetic predisposition not evident yetACTA PAEDIATRICA, Issue 3 2005Mikko HALLMANArticle first published online: 2 JAN 200 Abstract The epithelial Na+ channel (ENaC) contributes to the clearance of fetal lung liquid. In premature infants, low ENaC activity and low expression level of ,-ENaC have been associated with respiratory failure. The polymorphism in the ,-ENaC gene remains to be studied as a factor explaining the variation in the incidence of transient tachypnoea or respiratory distress syndrome in the newborn. Conclusion : The study of genetic predisposition to common multifactorial diseases requires analyses of large, well-defined cohorts for representative variants of relevant candidate genes. [source] | |||||||||||||||||||||||||