Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Polymorphic alleles of several genes such as ADH2, ALDH2, ApoB100, GST1, GST3 and ALAD were investigated from the aspect of the relationship with alcohol related diseases. DNAs were prepared from whole blood samples of 84 healthy controls (male), 70 patients (male) with alcohol related diseases and 87 patients (male) with non-alcoholic diseases. PCR technique was used for the detection of GST1 showed a good correlation to alcoholic liver diseases. The patients with alcoholic liver diseases had a higher frequency of ALDH2*1 than the healthy controls (p < 0.005). The frequencies of GST1 gene deletion in the samples were as follows: Healthy controls; 47.6%, alcoholic liver diseases (fibrosis: 75%, cirrhosis: 65.5%, hepatoma: 75%) and non-alcoholic liver diseases: 54%. The data indicated that the patients with alcoholic liver diseases had a significantly higher frequency of gene deletion than the healthy controls (p < 0.005). In addition, homozygote of ALAD1 allele detected by MpsI-RFLP showed a good correlation to alcoholic liver diseases. Thus, the genetic polymorphism of ALDH2, GST1 gene deletion and ALAD can be applied widely for the study of genetic association with alcoholic liver diseases.
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PMID:[Genetic and epidemiologic studies on alcoholic liver diseases]. 826 23

Comprehensive analysis of the contribution of genetic factors into predisposition to alcoholic toxic cirrhosis (TC) was performed. The ABO, RH, HP, TF, GC, PI, ACP1, PGM1, ESD, GLO1, and GST1 genetic polymorphisms were compared in 34- to 59-year-old male TC patients and control donors of the same sex and age. The phenotypic frequencies in the TC group deviated from the theoretically expected values; the main difference was the excess of rare homozygotes for the loci GC, ACP1, ESD, and GLO1. In the TC patients, the observed heterozygosity (Ho) was considerably lower than the theoretically expected value (H(e)). Wright's fixation index (F) in the TC patients was 30 times higher than in the control group (0.0888 and 0.0027, respectively). The frequencies of PI*Z and PI*S, the PI alleles that are responsible for lower concentrations of proteinase inhibitor, were 12 and 6 times higher in the TC than in the control group. The TC patients exhibited a significantly higher frequency of the liver glutathione-S-transferase GST1*0 allele, whereas the GST1*2 frequency was two times higher in the control subjects than in the TC patients (0.2522 and 0.0953, respectively). The TC and control groups showed statistically significant differences in the frequencies of the following alleles of six independent loci: ABO*0, TF*C1, TF*C2, PI*M1, PI*Z, ACP1*C, PGM1*1+, PGM1*1-, PGM1*2-, GST1*0, and GST1*2. The haptoglobin level was significantly higher and the serum transferrin level was drastically lower in all phenotypic groups of TC patients than in control subjects. The concentrations of IgM and IgG depended on the HP, GC, and PI phenotypes. The total and direct reacting bilirubin concentrations depended on the erythrocytic-enzyme phenotypes (ACP1, PGM1, and GLO1) in both TC and control groups.
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PMID:[Genetic predisposition to development of toxic liver cirrhosis caused by alcohol]. 1143 64