Phosphoglycolate phosphatase in several population groups in Israel

The genetic polymorphism of phosphoglycolate phosphatase (PGP) found in red blood cells has been investigated in several population groups in Israel: Ashkenazi Jews, non-Ashkenazi Jews from Iraq, Yemen, Turkey, Iran, Balkan, North Africa and Arabs. The distribution of the PGP genes was not homogeneous (chi 2 = 40.545; d.f. = 20; p less than 0.005). The PGP2 gene frequency varied between 0.0185 in the Yemenite and 0.0688 in the Iranian Jews. PGP3 gene frequency ranged between 0.0062 in the Iranian and 0.0547 in the Moroccan Jews. Depsite this heterogeneity all the Israeli population groups showed some unifying characteristics which differentiated them from a random European population sample, namely higher frequencies of PGP1 gene (92-97% as opposed to 82% in th European sample) and lower frequencies of PGP2 gene (1.8-6.8% compared to 12.9% among Europeans).     

Polymorphism of the apolipoprotein E gene and the risk of myocardial infarction

The apolipoprotein E (ApoE) gene polymorphism resulting from nucleotide substitutions in exon 4 was analyzed in Russian and Tatar patients with myocardial infarction (MI) from Bashkortostan. Alleles epsilon 2, epsilon 3, and epsilon 4 were identified by PCR. The genotype frequency distribution proved to be age-dependent in healthy Russians, genotype E2/3 increasing in frequency in subjects beyond 45. Russians who suffered MI under 45 had lower frequencies of genotype E3/3 (50.00% vs. 75.47% in controls of the same age, P = 0.013, OR = 0.33) and allele epsilon 3 (72.12% vs. 85.85%, P = 0.020, OR = 0.43) and a higher frequency of allele epsilon 4 (22.12% vs. 10.38%, P = 0.030, OR = 2.45). Russians who suffered MI complicated by cardiogenic shock (CS) had a significantly higher frequency of genotype E3/4 and lower frequencies of genotype E3/3 and allele epsilon 3 as compared with MI patients without CS. In Tatars, genotype E4/4 occurred at a frequency of 14.29% in patients who suffered MI under 45, and was not detected in healthy subjects of the same age (P = 0.024, OR = 17.85). Thus, the ApoE polymorphism was associated with higher risk of MI in Russians and Tatars under 45.     

Haptoglobin types among the population of western Kazakhstan and their relation to humoral factors of body resistance

Among 803 healthy persons examined, 20.4% of Russians and 18.1% of Kazakhs had Hp 1-1 phenotype, 50.0 and 49.3%, respectively, had Hp 2-1 and 29.6 and 32.6% had Hp 2-2 phenotype. The frequency of Hp1 and Hp2 genes is 0.455 and 0.429, 0.545 and 0.571 (p less than 0.05) for Russians and Kazakhs, respectively. The correlation is established between the haptoglobin type and the level of haemolysins. For example, the latter is greater in number in the organisms of persons possessing the Hp2 gene, especially, when in homozygotic state.     

Polymorphism of Alcohol Dehydrogenase Gene <Emphasis Type="Italic">ADH1B</Emphasis> in Eastern Slavic and Iranian-Speaking Populations

Frequencies of alleles and genotypes for alcohol dehydrogenase gene ADH1B (arg47his polymorphism), associated with alcohol tolerance/sensitivity, were determined. It was demonstrated that the frequency of allele ADH1B*47his, corresponding to atypical alcohol dehydrogenase variant in Russians, Ukrainians, Iranians, and mountain-dwellers of the Pamirs constituted 3, 7, 24, and 22%, respectively. The frequencies established were consistent with the allele frequency distribution pattern among the populations of Eurasia. Russians and Ukrainians were indistinguishable from other European populations relative to the frequency of allele ADH1B*47his, and consequently, relative to specific features of ethanol metabolic pathways. The data obtained provide refinement of the geographic pattern of ADH1B*47his frequency distribution in Eurasia.     

DNA Length Polymorphism of Tetranucleotide Repeat at the 5′ Side of the Myelin Basic Protein Gene in Russian Multiple Sclerosis Patients

The myelin basic protein gene (MBP) can confer the susceptibility to multiple sclerosis, because its protein product is the main protein component of myelin of the central nervous system and a potential autoimmune antigen in the disease. A possible association of multiple sclerosis with alleles and genotypes of a microsatellite repeat (TGGA) _n , located to the 5 side from the first exon of MBP in ethnic Russians (126 patients with definite multiple sclerosis and 142 healthy controls from Central Russia) was analyzed in a case–control study. Upon separation of the tetranucleotide repeat amplification products in 1.5% agarose gel, one can see two distinct bands that can be analyzed as two allele groups (A and B). The distribution of allele A and B group frequencies as well as phenotype frequency of alleles B and genotype frequency of A/A differs significantly in multiple sclerosis patients and healthy controls. Alleles A and genotype A/A are associated with multiple sclerosis. We also analyzed the association of multiple sclerosis with combined bearing of alleles and genotypes A and B of MBP and groups of alleles of the DRB1 gene of the major histocompatibility complex that correspond to serological specificities DR1-DR18. The comparison of subgroups of multiple sclerosis patients and healthy individuals, stratified according to HLA-DRB1 phenotypes, has shown a reliable increase in the phenotype frequency of allele B in healthy individuals and the genotype A/A frequency in patients, only among DR4- and DR5-positive individuals. No significant difference was found in the MBP allele and genotype distribution between multiple sclerosis patients and healthy individuals in combined groups of (DR4,DR5)-negative individuals, i.e., in the group of carriers of any phenotype except DR4 and DR5. Thus, MBP or some other nearby gene is involved in the multiple sclerosis development in Russians, predominantly (or exclusively) among DR4 and DR5 carriers. In this case, without stratification of analyzed individuals by the MBP alleles, multiple sclerosis is associated only with DR2(15), but not DR4 and DR5 alleles of DRB1. The results obtained are in favor of the genetic heterogeneity of multiple sclerosis, and suggest the possibility of epistatic interactions between the MBP and DRB1 genes.     

Apolipoprotein E and A-IV Polymorphisms in Ethnic Russians Living in Estonia

To determine the distribution of genetic variations in apolipoprotein E (apoE) and apolipoprotein A-IV (apoA-IV) genes, 137 Russians living in Estonia was screened by isoelectric focusing and immunoblotting procedures. The apoA-IV-2 allele and apoE4 allele frequency of the Russians tended to be lower than in most other European populations.     

Polymorphism of the prion protein gene <Emphasis Type="Italic">PRNP</Emphasis> and risk of multiple sclerosis development in ethnic Russians from Bashkortostan

M129V polymorphism of prion protein gene PRNP has been studied in patients with multiple sclerosis (MS) and healthy ethnic Russians from Bashkortostan using allele-specific PCR. The genotype frequency distribution of the examined polymorphism in Russians from Bashkortostan was similar to that in European populations. MM, MV, and VV genotype frequencies in control group and in the MS patients were 50.24%, 42.58%, 7.18% and 43.33%, 45.83%, 10.84%, respectively. It was shown that in the group of MS patients with onset of the disease at the age of 21 and older, the frequency of the VV genotype was higher than in the control group (14.3% versus 6.18%, respectively, P = 0.041). We suggest that the VV genotype is associated with higher risk factor of MS development in the patients aged 21 years and older.     

Polymorphism of the Apolipoprotein E Gene and Risk of Myocardial Infarction

The apolipoprotein E (ApoE) gene polymorphism resulting from nucleotide substitutions in exon 4 was analyzed in Russian and Tatar patients with myocardial infarction (MI) from Bashkortostan. Alleles 2, 3, and 4 were identified by PCR. The genotype frequency distribution proved to be age-dependent in healthy Russians, genotype 2/3 increasing in frequency in subjects over 45. Russians who suffered MI under 45 had lower frequencies of genotype E3/3 (50.00% vs. 75.47% in controls of the same age, = 0.013, OR = 0.33) and allele 3 (72.12% vs. 85.85%, = 0.020, OR = 0.43) and a higher frequency of allele 4 (22.12% vs. 10.38%, = 0.030, OR = 2.45). Russians who suffered MI complicated by cardiogenic shock (CS) had a significantly higher frequency of genotype 3/4 and lower frequencies of genotype 3/3 and allele 3 as compared with MI patients without CS. In Tatars, genotype 4/4 occurred at a frequency of 14.29% in patients who suffered MI under 45, and was not detected in healthy subjects of the same age ( = 0.024, OR = 17.85). Thus, the ApoE polymorphism was associated with higher risk of MI in Russians and Tatars under 45.     

Genotypes of vitamin-D-binding protein (DBP) in patients with chronic obstructive pulmonary disease and healthy population of Republic Bashkortostan

The distribution of alleles and genotypes of vitamin D-binding protein (DBP) gene has been studied in patients with Chronic Obstructive Pulmonary Disease (COPD, n = 298) and healthy individuals (n = 237) from two ethnic groups (Tatars and Russians) living in Republic Bashkortostan. Statistically significant differences in the distribution of DBP gene genotypes between Tatars and Russians (chi2 = 8.854, df = 5, P = 0.04) were revealed. The pattern of allele's distribution within DBP gene was similar in healthy control subjects of both ethnic groups, with gradient reduction in row GC*1S> GC*1F> GC*2. The most common genotypes were: GC*1F/1S in Tatars (36.79%) and GC*1S/2 in Russians (34.62%). It has been shown, that Tatars with genotype GC*1F/1S have a lower risk of COPD development: the frequency of GC*1F/1S genotype in COPD patients was significantly lower than in healthy individuals (19.85% versus 36.79%; chi2 = 7.622, P = 0.0067, Pcor = 0.0335; OR = 0.42 CI 95% 0.22-0.79). At the same time, COPD patients from the same group had higher frequency of GC* 1F/2 genotype than healthy individuals (19.08% versus 8.49%; chi2 = 4.52, P = 0.033, Pcor = 0.165; OR = 2.54 CI 95% 1.067-6.20). In Russian population the distribution of alleles and genotypes of DBP gene were similar in COPD patients and healthy individuals.     

Population genetics study of functional brain asymmetry in the native and immigrant populations of northeastern USSR. I. Sex-age distribution and familial data

Clearly definable polymorphism of hemisphere interrelations represented by three phenotypes was established by the method of EEG cross-correlation analysis. Each phenotype of the three, representing polymorphism, is characterized by marked specificity of perception and the processing of information, which determines certain integral physiological characteristics of individuals. Phenotype frequencies in aboriginal and new-come populations of the North-East of the USSR differ significantly. In comparison with the inhabitants, Moscow Russians of Magadan are significantly closer to aboriginal population, judging by their frequency distribution, and this may be due to the strategy specificity in adaptation of populations to environmental conditions. Significant difference in phenotype frequencies is shown in representatives of both sexes, this being more pronounced in the aboriginal population. The establishment of interhemispheric reaction type by approx. 10th year of individual's life is confirmed. Phenotype frequency correlations, depending on parental phenotype, were analyzed in children. The role of genetic and environmental factors in manifestation of the hemisphere relationship type is discussed. Rationality of the population analysis of hemisphere asymmetry types is grounded, according to the study of behavioural genetics and population adaptation.     

HindIII polymorphism of lipoprotein lipase gene and risk of myocardial infarction

The purpose of this study was to determine whether HindIII restriction polymorphism found in intron 8 of lipoprotein lipase gene is associated with the onset of myocardial infarction (MI) in Russians and Tartars living in Bashkortostan. HindIII polymorphism was investigated by the polymerase chain reaction in myocardial infarction survivors (males aged under 55 years (98 Russians and 68 Tartars) and in controls (53 Russians and 80 Tartars). The distribution of genotypes and allele frequencies in the controls were as follows: the frequencies of genotypes HindIII(-/-), HindIII(+/-), and HindIII(+/+) in Russians (3.77, 49.06, and 47.17%, respectively) did not differ from those in Tartars (7.50, 51.24, and 41.25%, respectively), while the frequency of HindIII(-) allele was 28.30% in Russians and 33.13% in Tartars. Among Tartars, the HindIII(+/+) genotype was more common in myocardial infarction survivors than in controls (OR 2.03). In the Russians this genotype was not associated with the risk of MI. The frequencies of HindIII(+/+) genotype and allele HindIII(+) were significantly higher (OR 8.96 and 6.71, respectively) and frequencies of HindIII(+/-) genotype and allele HindIII(-) were lower (OR 0.13 and 0.15) in Russian patients with repeated MI. These findings indicate that HindIII polymorphism may be a genetic risk factor for MI before 55 years of age in the Tartars and for repeated MI in Russians. This association prompts genotyping of HindIII polymorphism for predicting MI recurrence in Russian survivors after MI.     

Distribution of Gd- alleles in some ethnic groups of the USSR

Summary A population study of Gd^- allele distribution was made in similar (age-sex) samples of schoolchildren and students from different ethnic groups: Russians, Ashkenazi Jews, and Azerbaijanians. Both the frequency and the spectrum of the Gd^- alleles were quite different. The Gd^- frequency in Russians (Kostroma region) was 0.36%; in Ashkenazim (Gomel region), 0.91%; in Azerbaijanians (Sheki region and Apsheron region), 3.6% and 10.5%, respectively. G6PD deficiency in Russians is represented by familial forms; in Ashkenazi Jews by class II alleles Kirovograd and Zhitomir; and in Azerbaijanians, by a wide spectrum of class II and III alleles. Genetic factors involved in the formation of Gd^- allele frequencies and the spectrum in these three ethnic groups are discussed.     

Association of the T174M Polymorphism of the Angiotensinogen Gene with Essential Hypertension in Russians and Tatars from Bashkortostan

The alleles and genotypes of the T174M polymorphism of the angiotensinogen gene were PCR-analyzed in Russians and Tatars from Bashkortostan. The genotype frequency distribution observed in either ethnic group did not differ from that reported for other populations. The T174M polymorphism was tested for association with essential hypertension (EH). Genotypes TT, TM, and MM were found respectively in 82.56, 13.95, and 3.49% normotensive Russians and in 83.81, 16.19, and 0% normotensive Tatars. The frequency of genotype TM in patients with EH onset beyond 45 years of age was significantly higher than in controls of the same age without signs of cardiovascular disorders (51.72 vs. 11.11% in Russians and 45.45 vs. 16% in Tatars). Patients with EH onset under 45 did not differ in genotype frequency distribution from normotensive subjects of the same age. Genotype TM was associated with higher risk of EH in people over 45.     

Analysis of reproductive and age parameters in Kalmyk rural populations

Questionnaire data of 704 women of postreproductive age were used in this study. Questionnaire involved 462 Kalmyks, 119 Russians, 43 Kazakhs, 52 representatives of Northern Caucasus ethnic groups and, 28 other ethnic groups. The average number of pregnancies in Kalmyks was 5.49; the average number of live births was 3.21. The Crow index for Kalmyks was I(m) = 0.038, I(f) = 0.300, I(tot) = 0.350; and for Russians in Kalmykia, I(m) = 0.030, I(f) = 0.264, I(tot) = 0.302.     

Association of the T174M polymorphism of the angiotensinogen gene with essential hypertension in Russians and Tatars from Bashkortostan

The alleles and genotypes of the T174M polymorphism of the angiotensinogen gene were PCR-analyzed in Russians and Tatars from Bashkortostan. The genotype frequency distribution observed in either ethnic group did not differ from that reported for other populations. The T174M polymorphism was tested for association with essential hypertension (EH). Genotypes TT, TM, and MM were found respectively in 82.56, 13.95, and 3.49% normotensive Russians and in 83.81, 16.19, and 0% normotensive Tatars. The frequency of genotype TM in patients with EH onset beyond 45 years of age was significantly higher than in controls of the same age without signs of cardiovascular disorders (51.72 vs. 11.11% in Russians and 45.45 vs. 16% in Tatars). Patients with EH onset under 45 did not differ in genotype frequency distribution from normotensive subjects of the same age. Genotype TM was associated with higher risk of EH in people aged beyond 45.     

Protein gene product 9.5 expression in the human fetal cochlea.

The distribution of protein gene product (PGP) 9.5 was analyzed in the human fetal cochlea using the indirect immunofluorescence method. In the 12- and 14-week-old human fetuses, the cells of the greater epithelial ridge and the lesser epithelial ridge were overall labelled with PGP 9.5, while the stria vascularis and the Reissner's membrane did not exhibit any staining. Spiral ganglion cells and cochlear nerve fibers were labelled with PGP 9.5 and PGP 9.5-positive nerve fibers made contact with the basement membrane of the Corti primordium in the 12-week-old human fetus. These results suggest that PGP 9.5 might be used as a histological marker of maturation and innervation in the human cochlea.     

Alpha-1-antitrypsin (PI) subtypes in Russians and Poles.

alpha-1-antitrypsin (PI) subtypes were studied in Poles and Russians. The frequencies of the PI alleles were similar in the two populations, with the exception of the Z allele, whose frequency was significantly lower in Poles. The M3 allele frequency, which is highly heterogeneous in European populations, has medium frequencies in Poles and Russians.     

Polymorphism of alcohol dehydrogenase gene ADH1B in eastern Slavic and Iranian-speaking populations

Frequencies of alleles and genotypes for alcohol dehydrogenase gene ADH1B (arg47his polymorphism), associated with alcohol tolerance/sensitivity, were determined. It was demonstrated that the frequency of allele ADH1B*47his, corresponding to atypical alcohol dehydrogenase variant in Russians, Ukrainians, Iranians, and mountain-dwellers of the Pamirs constituted 3, 7, 24, and 22%, respectively. The frequencies established were consistent with the allele frequency distribution pattern among the populations of Eurasia. Russians and Ukrainians were indistinguishable from other European populations relative to the frequency of allele ADH1B*47his, and consequently, relative to specific features of ethanol metabolic pathways. The data obtained provide refinement of the geographic pattern of ADH1B*47his frequency distribution in Eurasia.     

Apolipoprotein E and A-IV polymorphisms in ethnic Russians living in Estonia

137 Russians living in Estonia was screened by isoelectric focusing and immunoblotting procedures to determine the distribution of genetic variations in apolipoprotein E (apoE) and apolipoprotein A-IV (apoA-IV) genes. The apoA-IV-2 allele and epsilon4 allele frequency of the Russians tended to be lower than in most other European populations.     

Ontogeny of intrinsic innervation in the human thymus and spleen.

The ontogeny of the innervation of human lymphoid organs has not been studied in detail. Our aim was to assess the nature and distribution of parenchymal nerves in human fetal thymus and spleen. We used the peroxidase immunohistochemical technique with antibodies specific to neuron-specific enolase (NSE), neurofilaments (NF), PGP9.5, S100 protein, and tyrosine hydroxylase (TH) and evaluated our results with image analysis. In human fetal thymus, NSE-, NF-, S100-, PGP9.5-, and TH-positive nerves were identified associated with large blood vessels from 18 gestational weeks (gw) onwards, increasing in density during development. Their branches penetrated the septal areas at 20 gw, reaching the cortex and the corticomedullary junction between 20 and 23 gw. Few nerve fibers were seen in the medulla in close association with Hassall's corpuscles. In human fetal spleen, NSE-, NF-, S100-, PGP9.5-, and TH-positive nerve fibers were localized in the connective tissue surrounding the splenic artery at 18 gw. Perivascular NSE-, NF-, S100-, PGP9.5-, and TH-positive nerve fibers were seen extending into the white pulp, mainly in association with the central artery and its branches, increasing in density during gestation. Scattered NSE-, NF-, S100-, PGP9.5-, and TH-positive nerve fibers and endings were localized in the red pulp from 18 gw onward. The predominant perivascular distribution of most parenchymal nerves implies that thymic and splenic innervation may play an important functional role during intrauterine life.