[Genetic aspects of digestive diseases. Part 1].

The paper presents the data available in the literature on mutations in known genes in pancreatitis, such as cationic trypsinogen (PRSS1), pancreatic secretory trypsin inhibitor (PSTI/SPINK1), cystic fibrosis (CFTR), and apolipoprotein E (APOE) genes, as well as the new candidate gene--chymotrypsinogen (CTRC). It also gives the results of the authors studies estimating the spread of the mutations in the PRSS1 (2.5%), PSTI/SPINK1 (3.3%), and CFTR (0.8%) genes, as well as APOE polymorphism in patients with pancreatitis. It is shown that the E4 allele of the APOE gene was more frequently identified in patients with acute pancreatitis than in those with chronic pancreatitis (0.143 +/- 0.05 and 0.026 +/- 0.02, respectively; p < 0.05). An overview is given of 7 major classes of candidate genes implicated in the pathogenesis of cholesterol cholelithiasis (CL): hepatic enzymes regulating blood lipid composition; receptors of lipoproteins, hepatic and intestinal membrane and intracellular transport proteins; factors regulating the transcription of lipids and bile salts, cholecystokinin and its receptors, and mucin. In the authors' epidemiological study, the spread of APOE alleles and genotypes did not differ in women with and without CL; low molecular-weight apolipoprotein(a) isoforms (B, S2) were significantly found in patients with CL than in those without CL; the spread of the CG genotype in the TRPM8 gene was significantly lower in women with cholesterol CL than that in the Novosibirsk population. These polymorphisms have been proved to be associated with bile cholesterol concentrations in women with cholesterol CL. The opposite effect of the APOE4 allele on gallbladder stone formation processes is demonstrated, by using the APOE polymorphism as an example, which shows it necessary to examine each specific population to elicit a possible association between the polymorphism of different genes and gastrointestinal tract diseases.

[Lipoprotein(a)--a new independent cholelithiasis risk factor?].

AIM: To study the level of lipoprotein(a)--Lp(a) in the blood serum and incidence of isoforms of apolipoprotein(a)--apo(a) in males and females with cholelithiasis and free of it in population of Novosibirsk; to assess possible correlations between Lp(a) level in the blood, apo(a) isoforms and bile lithogenicity in females with cholesterol cholelithiasis. MATERIAL AND METHODS: Examination of the representative samples of 870 females aged 25-64 years and 405 males aged 35-54 years has detected cholelithiasis in 91 females and 19 males. RESULTS: Serum levels of Lp(a) are associated with cholelithiasis. Risk of the latter in males (Lp(a) > 28 mg/dl) and females (Lp(a) > 24 mg/dl) is estimated. It is confirmed that isoforms of apo(a) B, S1 and S2 in females and isoforms of apo(a) B, S2 in males with cholelithiasis occur much more frequently than in individuals free of cholelithiasis while isoform apo(a) S4 is rare. Females with cholesterol cholelithiasis have positive correlation between blood Lp(a) levels, the presence of isoforms apo(a) B, S1 and bile lithogenicity. CONCLUSION: Males and females with cholelithiasis have more frequent high concentrations of Lp(a) (> 30 mg.dl) while low levels (0-5 mg/dl) are rare. There is a correlation between blood levels of Lp(a), apo(a) isoforms, bile lithogenicity in females with cholesterol cholelithiasis.

[Lithogenicity of bile and serum lipoproteins (A) in cholelitiasis in women].

Blood serum Lp (a) level's increasing accompanied significant rising of gallbladder bile lithogenicity in the women with gallstone disease (GSD) with verified cholesterol gallstones. Apolipoprotein (a) (Apo (a)) isoforms B, S1 (most atherogenic) frequency in the women with GSD was significantly higher, and isoforms Apo (a) 0, S4 - significantly lower than in the women in control group without GSD. Gallbladder bile was significantly more lithogenic in the women with GSD who had Apo (a) B and S1 isoforms than in women with GSD with isoforms Apo (a) 0 and S4.

[APOE gene polimorphism and lithogenicity of the bile in the women with cholelithiasis].

AIM: to study the frequency of alleles and genotypes of APOE gene in women with gallstone disease (GSD), and also to research the association of the APOE gene polymorphism and bile lithogenicity indices. MATERIALS AND THE METHODS: were investigated 104 women after cholecystectomy about verified cholesterol gallstones, and 176 women from the female Novosibirsk population, they were control group for the comparison of the frequency of APOE alleles and genotypes. Gallbladder bile (bile cholesterol, common bile acids) was investigated in women with GSD. Blood serum lipids and APOEgene polymorphism were studied in all women. RESULTS: APOE gene polymorphism in the women with GSD did not differ from those registered in control group from women population. At the presence of APOE4 allele at the women with GSD the significant increase of gallbladder biliary cholesterol level was marked. In the women with GSD with various APOE genotypes average levels of blood serum lipids, common bile acids and bile cholesterol indices were similar.

[Erratum: The forearm fractures in patients with diabetes and without diabetes in population sample aged over 50 years (Novosibirsk) (Problems of Endocrinology (2019) 65(2) DOI: 10.14341/probl9799)].

A corrigendum on the article The forearm fractures in patients with diabetes and without diabetes in population sample aged over 50 years (Novosibirsk) by E.S. Mazurenko, S.K. Malyutina, L.V. Shcherbakova, S.V. Mustafina, T.M. Nikitenko, M. Bobak, O.D. Rymar (2018). Problems of Endocrinology 65(2). doi: 10.14341/probl9799 There was an error on the page 84 in the Table 4: symbol greater than or equal to was confuse with lower than in the table raw for menopause; symbol lower than or equal to was confuse with greater than in the table raw for total cholesterol level. The authors and editors apologize for this error. The original article has been updated.

[The forearm fractures in patients with diabetes and without diabetes in population sample aged over 50 years (Novosibirsk)].

BACKGROUND: The attention to the forearm fractures, as to osteoporotic fractures, is important for ensuring early detection of individuals at increased risk of future fractures and taking preventive measures. AIMS: To determine the frequency of a history of forearm fractures in patients with type 2 diabetes mellitus (DM2) and without diabetes, and their association with risk factors for chronic non-communicable diseases (NCD). MATERIAL AND METHODS: In 2015-2017, in Novosibirsk, a random urban population sample of males and females, 58-84 years old (n=3878), was surveyed. The study included persons who signed the informed consent to conduct the study, excluded individuals who wrote a waiver of taking blood to determine biochemical parameters. In total, the analysis included n=3393 people, 718 of them with DM2 (21.2%). Work design is cross-sectional research. The collection of information on fractures during for the last 3 years, the registration of socio-demographic data; and risk factors for NCD, a study of biochemical blood parameters. The analysis of the association of DM2 and a complex of risk factors for NCD with a chance of a forearm fracture. RESULTS: The prevalence of forearm fractures in the last 3 years did not differ in patients with DM2 compared with those examined without diabetes and was 2.4% and 2.8%, respectively (p=0.557). Men with fractures had higher cholesterol and HDL values, women had lower body mass index (BMI), compared with people without fractures. According to the results of a multivariate analysis in women, the chance of a forearm fracture is directly associated with smoking in the past, a total cholesterol level of more than 200 mg/dl and inversely associated with a BMI. In men, associations were found of the chance of a forearm fracture with an increase in the level of cholesterol. There was no evidence of DM2 with forearm fracture. CONCLUSION: The obtained data on the incidence of fractures and their association with risk factors for chronic low risk infections suggest the need for preventive measures for osteoporotic fractures, both in people with and without DM2.