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At least 73 records · Page 4Linked to original sources
PubMed1988

The role of genetic factors in bladder cancer.

The etiology of bladder cancer with regard to environmental factors is well known, but little attention has been focused on the role of genetic factors. The international variation in bladder cancer rates leaves open the question of whether this can be accounted for solely as the result of the differential distribution of environmental factors. In this review, the diverse literature on the potential role of genetic factors in bladder cancer is summarized in four categories: 1) familial aggregation, 2) genetic polymorphisms, 3) the N-acetyltransferase phenotype, and 4) activated oncogenes and chromosomal changes. The role of genetic factors has not been conclusively ascertained, but it appears that two different patterns of genetic involvement can be identified: a Mendelian pattern of autosomal dominant inheritance that accounts for a very small number of cases, and a multifactorial, probably polygenic, pattern involving genetic and environmental interaction. More research is needed to corroborate these findings and assess their significance.

Acetyltransferases↗
PubMed2001

Clustering of metabolic abnormalities in obese individuals: the role of genetic factors.

The objective of this paper is to review the current evidence in support of genetic factors underlying the clustering of components of the metabolic syndrome in obese individuals. It has become clear that individual features of the metabolic syndrome are partially determined by familial factors some of which are unique to a given component and others that are shared among several features. A few candidate genes, encoding proteins of glucose, insulin and lipid metabolism, lipolytic cascade, fatty acid intestinal absorption, glucocorticoid metabolism, haemostasis and blood pressure, have been associated with a clustering of metabolic abnormalities, although the functional significance of these associations remains to be established. Furthermore, genetic polymorphisms, such as those detected at several lipoprotein metabolism loci, can modulate the relationships between different components of the metabolic syndrome. An overfeeding study conducted on identical twins has demonstrated that genetic factors play an important role in the responsiveness to changing energy balance conditions. Leptin receptor, beta2 adrenergic receptor and glucocorticoid receptor gene polymorphisms have been associated with an augmented clustering of metabolic abnormalities in response to overfeeding. Gene-gene interaction effects between markers of the alpha2A, beta2 and beta3 adrenergic receptor genes on components of the metabolic syndrome have been described. Genetic factors also seem to modify the responsiveness of metabolic syndrome features to endurance training. A growing understanding of the genetic architecture of the metabolic syndrome may help in the prevention of this condition. The reduction of excess body fat, the most common clinical feature among the cluster of metabolic abnormalities, should be the focus of the prevention and treatment of the metabolic syndrome.

Adipose Tissue↗
PubMed1996

Genetic factors in dilated cardiomyopathy.

Recent studies have demonstrated that genetic factors are likely to play a major role in the pathogenesis of idiopathic dilated cardiomyopathy (IDC). In clinical surveys, a familial trait has been demonstrated in 20 to 30% of idiopathic dilated cardiomyopathy patients (familial dilated cardiomyopathy). Molecular genetic studies have confirmed the clinical hypothesis of genetic heterogeneity in familial dilated cardiomyopathy, and are currently producing relevant advances in the understanding of this disease. The autosomal dominant form is considered to be the most frequent form of inherited idiopathic dilated cardiomyopathy. After the exclusion of a large series of candidate genes, the first familial dilated cardiomyopathy gene has been mapped to the long arm of chromosome 9. A second locus has been found on chromosome 1. Moreover, in two large families, characterized by a peculiar form of conduction delays and later development of myocardial dysfunction, the disease loci have been mapped to chromosome 1 and 3, respectively. The identification of the disease genes is in progress. In families with X-linked dilated cardiomyopathy, the disease gene has been identified as the dystrophin gene. The 5' end of the gene appears to be the critical region for the development of dilated cardiomyopathy without clinical evidence of muscle dystrophy. Furthermore, other cytoskeletal proteins, such as adhalin, could be involved in the pathogenesis of familial dilated cardiomyopathy. In familial right ventricular cardiomyopathy (or arrhythmogenic right ventricular dysplasia) characterized by isolated or prevalent right ventricular involvement, three different disease loci have been identified so far: two localized on the long arm of chromosome 14 and one on chromosome 1. The disease genes are still unknown and are currently under investigation. The study of the genetic factors at the molecular level is starting to elucidate the pathogenetic mechanisms of idiopathic dilated cardiomyopathy. These findings will also have relevant clinical and therapeutic implications.

Cardiomyopathy, Dilated↗
PubMed1994

Genotypes of ALDH2 related to liver and pulmonary diseases and other genetic factors related to alcoholic liver disease.

Genetic factors related to the development of alcoholic liver and pancreatic diseases (ALD and APD) and of alcohol-induced asthma were analyzed. The development of ALD is genetically controlled and is directly associated with the polymorphisms of the genes of acetaldehyde (Ac-CHO) and ethanol-metabolizing enzymes, aldehyde dehydrogenase-2 (ALDH2) and cytochrome P4502E1. The development of ALD and APD may also be genetically linked with the induction of gamma-glutamyl transferase (GTT) by alcohol. Alcohol-induced asthma is related to the genotypes of ALDH2 and is caused by rapid elevation of blood Ac-CHO. ALDH1 plays a very important role in the oxidation of Ac-CHO in blood.

Acetaldehyde↗
PubMed1989

[Relation between genetic and non-genetic factors of individual susceptibility to silicosis].

The study was carried out at a number of industrial enterprises at risk of silicosis by means of the methodological approach based on the mathematical theory of image discrimination. It was shown that under the given conditions of dust exposure higher or lower probability of the development of silicosis and silicotuberculosis in an individual depended on the whole set of environment and endogenic factors, involving genetic predisposition to the disease as one of the leading factors. The impact of the above factors being similar irrespective of the type of the enterprise, their comparative contribution could be different. Thus reliable prediction of high probability of the disease development could be provided by means of the method of multifactorial analysis only as applied to specific conditions of the given enterprise. In spite of low prevalence of the genotype of silicosis- and silicotuberculosis-associated resistance, under the exposure to quartz dust, high probability of the disease development was predicted only in a number of cases if other individual symptoms were taken into account along the genotype. Therefore it became possible to identify the most susceptible persons at the stage of medical vocational selection.

Bronchitis↗
PubMedDate not supplied

Comparison of environmental and genetic factors for Parkinson's disease between Chinese and Caucasians.

This review paper compares the differences in prevalence, and environmental and genetic risk factors for Parkinson's disease between Chinese and Caucasian subjects. Comparison of age-specific prevalence between Chinese people and Caucasians suggests that the prevalence is lower in the Chinese (at least in the past), although the prevalence rate in China appears to be rising. Distinctions in environmental risk factors and genetic factors are discussed. The difference in prevalence may be due to distinctions in environmental and genetic risk factors as well as the complex interaction between these environmental and genetic factors, although discrepancies in methodology for prevalence surveys can also be an explanation.

Asian People↗
PubMed1974

Genetic factors in malaria.

Some of the available information on the genetics of Plasmodium is reviewed, and some of its peculiarities are emphasized. Genetic factors in the human host that may affect susceptibility to malaria are critically evaluated. Most of the studies thus far have been concerned with the genetics of host erythrocytes but there is recent evidence that genes affecting immune processes may also be involved. At least two genes affecting red cells confer relative resistance to P. falciparum: the autosomal gene for haemoglobin S (Hb S) and the sex-linked gene for the glucose-6-phosphate dehydrogenase (G6PD) variant known as A(-). Whereas malaria selection can be regarded as established for these genes, it still remains a hypothesis for some other polymorphic traits of red cells. Differential susceptibility to P. falciparum of red cells with different genotypes has been tested by in vitro cultures, in which the invasion of new cells and intracellular development of the parasite can be followed by parasite counts and by (14)C-isoleucine uptake. A model that relates genetic factors in Plasmodium and in man and that may account for certain features of host-parasite interactions is presented.

Animals↗
PubMed2003

[Genetic factors of osteoporosis and polymorphisms].

Osteoporosis is a common disease with a strong genetic factors. Twin studies have shown that genetic factors play an important role in regulating bone turnover and bone mineral density. These phenotypes are determined by the combined effects of several genes and environmental influences. A great deal of research has been done on candidate genes, among the best studied are vitamin D receptor gene. From a clinical standpoint, advances in knowledge about the prospect of developing genetic markers for the assessment of fracture risk will be used as targets for the design of new drugs for the prevention and treatment of osteoporosis.

Humans↗
PubMed2004

Identifying the combination of genetic factors that determine susceptibility to cervical cancer.

Cervical cancer is common among women all over the world. Although infection with high-risk types of human papillomavirus (HPV) has been identified as the primary cause of cervical cancer, only some of those infected go on to develop cervical cancer. Obviously, the progression from HPV infection to cancer involves other environmental and host factors. Recent population-based twin and family studies have demonstrated the importance of the hereditary component of cervical cancer, associated with genetic susceptibility. Consequently, single-nucleotide polymorphism (SNP) markers and microsatellites should be considered genetic factors for determining what combinations of genetic factors are involved in precancerous changes to cervical cancer. This study employs a Bayesian network and four different decision tree algorithms, and compares the performance of these learning algorithms. The results of this study raise the possibility of investigations that could identify combinations of genetic factors, such as SNPs and microsatellites, that influence the risk associated with common complex multifactorial diseases, such as cervical cancer.

Algorithms↗
PubMed1997

[Genetic factors, Na K ATPase activity and neuropathy in diabetics].

A genetic predisposition to develop a polyneuropathy in case of diabetes seems to exist. Some ethnic groups such as North Africans are prone to develop a diabetic polyneuropathy. To identify this predisposition could help in targeting a preventive treatment. We have observed that red cell Na/K ATPase activity was lower among diabetic patients than controls and even lower when diabetic neuropathy was present. Now an impaired NA/K ATPase activity has been implicated in the pathogenesis of diabetic neuropathy and ethnic differences in this enzyme activity have been demonstrated. For these reasons, we have compared red cell Na/K ATPase activity of European and North African individuals with or without diabetes and in case of diabetes with or without neuropathy. Among European subjects, Na/K ATPase activity was higher in 46 control subjects than in 84 insulin-dependent diabetic patients (405 +/- 16 nmol.mg Prot-1h-1 versus 282 +/- 10 p. < 0.05) and in the diabetic group Na/K ATPase activity was lower in the patients presenting with neuropathy (242 +/- 19 versus 323 +/- 12 p. < 0.05). The mean red cell Na/K ATPase activity was lower in 16 North African control subjects than in their European counterparts (296 +/- 26 p. < 0.05). The same observation was made when comparing 24 North Africans insulin dependent diabetic patients to the European diabetics (246 +/- 20 p. < 0.05). A low Na/K ATPase activity appears to be a risk marker of diabetic neuropathy. It could explain the propensity of North African patients to develop this diabetic complication. A restriction polymorphism exist on the first intron of the ATP1 A1 gene coding for the ATPase alpha 1 isoform. This isoform is preponderent in the nervous tissue and exclusive in red cells. Among European diabetic individuals, the presence of the restricted allele is strongly associated to diabetic neuropathy, confering a relative risk of 6.5 (95%, confidence interval 3.3-13). The restricted allele is associated to a lower Na/K ATPase activity but only among diabetic patients and not in control subjects. This fact suggests an interaction between genetic factors (the restriction polymorphism of ATP1 A1 gene) and environmental factors (diabetes) to induce a decrease in Na/K ATPase activity which in turn could favor the development of diabetic neuropathy. Among North African individuals the impairement of Na/K ATPase activity is not explained by the presence of this polymorphism. Other genetic factors remain to be identified.

Adult↗
PubMed1990

Role of initial sensitivity and genetic factors in the development of tolerance to ethanol in AT and ANT rats.

The role of initial sensitivity and genetic factors in the development of tolerance to ethanol were examined in rats selected for low (AT) and high (ANT) sensitivity to the motor impairment effect of ethanol. Following chronic ethanol treatment (5 g/kg PO, daily for 20 days), the AT and ANT rats acquired tolerance to the motor impairment effect of ethanol at a similar rate. The AT rats, however, acquired tolerance to the hypothermic effect of ethanol at a higher rate than the ANT rats. Such ethanol treatment did not produce any metabolic tolerance to ethanol in these animals. Since there is no difference in the initial response to the hypothermic effect of ethanol between the AT and ANT rats, the observed differences in the rate of tolerance development might be related to a direct genetic factor. The similar rate of tolerance development to the motor impairment effect of ethanol between the two lines was attributed to an interaction between an indirect (initial sensitivity) and a genetic factor in tolerance development.

Animals↗
PubMed2006

Preterm birth: a review of genetic factors and future directions for genetic study.

Preterm birth remains the leading cause of neonatal morbidity and mortality and is likely the result of interactions between specific genes and the maternal or fetal environment. The strong familial clustering of disease with documented increased risks in patients with a personal or family history of preterm birth and the racial disparities in the incidence of preterm birth support a genetic component of this condition. New technologies such as microarray, single nucleotide polymorphism analysis, and proteomics will lead to the eventual identification and characterization of the genetic etiology of preterm birth.

Female↗
PubMedDate not supplied

[Analysis of the genetic factors controlling malarial infection in man].

Genetic factors have clearly been shown to play a role in controlling malarial infection in animal models. There is now also increasing evidence for the genetic control of malaria in man. We carried out a segregation analysis based on blood parasite load phenotype for a population of the town of Bobo-Dioulasso (Burkina-Faso). This analysis demonstrated a strong genetic effect. Our results were not consistent with the segregation of a major gene and thus suggest that parasite load is under the control of minor genes. The genetic effect was stronger in children than in adults. We carried out a regression analysis in children and found that there was an association between the phenotype for blood parasite load and the q31-33 region of chromosome 5. We identified a gene in this region, Pfil1 (Plasmodium falciparum infection levels 1), which accounted for almost 50% of the variance in blood parasite load and which played a fundamental role in the control of infection. The 5q31-33 region contains several genes encoding cytokines that regulate T lymphocytes. The identification of genes controlling malarial infection opens up new possibilities for preventive and treatment strategies. It should be possible in the near future to identify individuals at risk of malaria, who would derive the greatest benefit from preventive and therapeutic measures. Finally, a deeper understanding of these genes controlling protective immune responses could be of value for the development of vaccines.

Adolescent↗
PubMed1999

Phenotypic and genetic factors in motives for smoking.

Underlying phenotypic and genetic factors involving motives for smoking were assessed using data from 1756 twins, including 390 complete pairs. Respondents were aged 50 or older and included both current and former smokers. The Motives for Smoking Questionnaire (MSQ) hypothesizes eight correlated but distinct motives for smoking, which correspond to pharmacological and nonpharmacological second-order factors. This paper concentrates on the pharmacological motives. Principal-factor analysis recovered five categories. Items constituting Sedative, Stimulative, and Addictive reasons for smoking merged into one factor, whereas Automatic smoking, also considered to have pharmacological origins, formed a separate factor. Twin analysis was used to test for genetic effects and to determine whether these factors, although combined phenotypically, were affected by distinct genetic or environmental influences. Genetic effects accounted for a significant amount of the variance in the four hypothesized pharmacological motives for smoking, as did shared environment. The separate factor for Automatic smoking in the phenotypic analysis was due to environmental effects, and shared environment was a greater influence on Automatic smoking for women than men. One common effect explained the genetic variance; no genetic influence uniquely affected any specific motive. Therefore, individual differences in the hypothesized pharmacological motives for smoking appear to originate from a common genetic pathway.

Aged↗
PubMedDate not supplied

Prenatal events and genetic factors in epileptic patients with neuronal migration disorders.

Because disorders of neuronal migration to cerebral cortex in humans are believed to occur in the first half of gestation, prenatal events or genetic factors are suspected to have a pathogenetic role. We evaluated this by comparing the frequency of potentially harmful prenatal events and of genetic factors in a series of 40 patients (38 with epilepsy) with neuronal migration disorders (NMD) and in 40 epileptic controls, using a predetermined standardized questionnaire to minimize interviewer bias. Potentially harmful prenatal events (significant maternal physical trauma, ingestion of medications, exposure to roentgenograms, infections, uterine or metabolic abnormalities) were reported in the pregnancy histories of 58% of patients with NMD but in only 15% of epileptic controls (p = 0.0002). In contrast, peri- and postnatal potentially relevant etiologic factors were reported in the histories of only 22% of patients with NMD but in 50% of the epileptic controls (p = 0.01). Genetic factors (a family history of epilepsy, mental retardation, or congenital malformations of the CNS) were noted in 13 and 20% of the families, respectively. Stillbirths occurred only in the group with NMD, accounting for 3.06% of sibling pregnancies. The findings suggest that prenatal potentially harmful environmental events play a central role in the pathogenesis of NMD in humans.

Abortion, Spontaneous↗
PubMed1995

[Influence of genetic factors on family history of upper urinary stones].

The family history between patients with upper urinary tract stones and healthy subjects was compared to evaluate the possible involvement of genetic factors in obtaining information through a questionnaire. The patients showed a significantly more marked history than the healthy subjects (p < 0.001). In particular, recurrent stone formers showed a significantly more marked history than single stone formers (p < 0.05). Compared with the healthy subjects, a more marked family history was observed in the parents, brothers and sisters, and children, but not in the spouse (p < 0.05-0.005). However, the family history was not affected by consanguineous marriage. A more marked family history was observed in patients with upper urinary tract stones, suggesting the involvement of genetic factors in the development of upper urinary tract stones. In particular, genetic factors seem to be more closely involved in recurrent stone formers.

Adult↗