Restriction Analysis of N-Acetyltransferase 2 Gene in Caucasian Population of West Siberia

Restriction analysis of the NAT2 gene was carried out in inhabitants of Novosibirsk. Polymorphism of this gene for nine known point mutations was studied in a sample of Novosibirsk residents consisting of 109 healthy Caucasians. The frequencies of these mutations did not significantly differ from the frequencies reported for Caucasian populations of other countries. In 79 patients with lung cancer, a region of the NAT2 gene that includes 29.7% of the coding sequence was analyzed for the new mutations by the RFLP analysis. No new mutations were found in this group.     

Spatial-typological structure and mapping of reptile population of West Siberia

West Siberian reptiles were studied on the basis of the materials collected in forest, forest-steppe, and steppe zones of the Ob’ region during 12 years. Their abundance in certain biotopes has been determined. The relationship between the heterogeneity of reptile community and basic structure-forming environmental factors has been estimated, and a map of population of this faunal class was compiled.     

Arylamine N-acetyltransferase 2 genotypes in a Mexican population

The acetylating activity of N-acetyltransferase 2 (NAT2) has critical implications for therapeutics and disease susceptibility. To date, several polymorphisms that alter the enzymatic activity and/or protein stability of NAT2 have been identified. We examined the distribution and frequency of NAT2 genotypes in the Mexican population. Among 250 samples amplified and sequenced for the NAT2 gene, we found seven different SNPs; the most frequent allele was 803 A>G (35.8%), followed by 282 C>T, 341 T>C, and 481 C>T. There were no differences in the distribution of SNPs between healthy subjects and cancer patients. These eight polymorphisms defined 26 diplotypes; 11.6% were wild type (NAT2*4/NAT2*4), while the most common diplotype was NAT2*4/NAT2*5B, present in 17.2%. We did not identify other common polymorphisms. The results were compared with the NAT2 SNPs reported from other populations. All but the Turkish population was significantly different from ours. We conclude that the mixed-race Mexican population requires special attention because NAT2 genotype frequencies differ from those in other regions of the world.     

Genogeographic analysis of subdivided population. The Adyge gene pool in the Caucasian gene pool system]

A gene geographic analysis of the indigenous population of the Caucasian historical cultural province was carried out with a set of genetic markers extensively studied in the Adyges (39 alleles of 18 loci): AB0, ACP, C3, FY, GC, GLO, HP, KEL, LEW, MN, MNS, P, PGD, PGM1, RH-C, RH-D, RH-E, and TF. Genetic information on 160 Caucasian populations was used (on average, 65 populations per locus). A synthetic map of the first principal component clearly showed a division into two gene geographic provinces: Northern Caucasus and Transcaucasia. The component significantly differed across the Greater Caucasian Ridge. One of the major regions of extreme values corresponded to the Adyge region. A map of the second component revealed two poles, Northwestern (the Adyges) and Caspian, in gene pool variation of the Caucasian population. The analysis of the maps and the space of principal components showed that the Adyge population is an important component of the Caucasian gene pool. A map of genetic distance from all Caucasian populations to the Adyges showed that the north Caucasian populations (excluding the Ossetes) are the most genetically similar to the Adyges, while Georgians from the Kolkhida Valley and Azerbaijanians from the lowlands near the Caspian Sea and highland steppes are the most genetically remote from the Adyges. The genetic diversity (GST x 10(2)) of the entire Caucasian gene pool was studied. The average diversity of subpopulation within a Caucasian ethnos was GS-E = 0.81, the diversity of ethnoses within a linguistic family was GE-L = 0.83, and the diversity of linguistic families was GL-T = 0.58. The race classification of the Caucasian populations (GS-E = 0.81, GS-R = 0.80, GR-T = 0.76) proved to be more genetically informative than the linguistic one. The major parameters of the Adyges (total diversity HT = 0.364, heterozygosity HS = 0.361, and subpopulation diversity within the ethnos GS-E = 0.69) were similar to those averaged over the entire Caucasian population. A comparison with the same set of genetic markers showed that the interethnic diversity in the Caucasian region was lower than in the other north Eurasian regions (GS-E was 1.24 in the European region, 1.42 in the Ural region, 1.27 in Middle Asia, and 3.85 in Siberia).     

Association of cytokine gene polymorphisms with malignant melanoma in Caucasian population

It has been hypothesized that polymorphisms expected to result in functional changes in cytokine genes may influence susceptibility to cancer, including malignant melanoma (MM). Here, we have screened 24 potentially functional polymorphisms in five cytokine genes by PCR-SBT and PCR-SSP methods in 122 MM cell lines derived from Caucasian patients. The polymorphic positions studied were: TNFA −1031, −863, −857, −851, −574, −376, −308, −238, +488; TGFB1 −988, −800, −509, +869, +915, +652, +673, +713, +788; IL10 −1082, −819, −592; IL6 −174; IFNG −333, +874. The frequencies of cytokine genotypes of melanoma tumours were compared with those published for healthy Caucasians. It was found that TNFA −238 GA, TGFB1 −509 CT, −800 GG, IFNG +874 AT, IL6 −174 GG, IL10 −1082 GA genotypes were significantly decreased, while TNFA −238 AA, −857 CC, TGFB1 −509 TT, IFNG +874 AA, IL6 −174 CC, IL10 −1082 AA, −819 TT, −592 AA genotypes were significantly increased, in MM. This suggests that genotypes provisionally associated with low expression of pro-inflammatory and immunomodulatory TNF-α, IFN-γ and IL-6 and anti-inflammatory IL-10 and TGF-β1 could be involved in the mechanisms of cancer progression and escape from immunoserveilance.     

Comparative analysis of karyotypes of Opisthorchis felineus from West Siberia

Karyotype of the trematode Opisthorchis felineus from two populations of the Ob and the Tom’ rivers basins in the southeast of the West Siberian plain was investigated. Comparative analysis of the relative length and centromere indices of seven chromosomes showed that they are identical to literature data on the chromosome sets of this trematode species from the lower and upper courses of the Irtysh River. The quality of chromosome spreads improved the former knowledge of the karyotype structure of this species, in particular, the 6th and 7th chromosomes.     

N-acetyltransferase 2 gene polymorphism in patients with colorectal carcinoma

The acetylation polymorphism is a common inherited variation in human drug and carcinogen metabolism. Because N- acetyltransferase (NAT2) is important for the detoxification and/or bioactivation of drugs and carcinogens, polymorphisms of this gene have important implications in therapeutics of and susceptibility to cancer. In this study, NAT2 genotype (NAT2*5A (C(481)T), NAT2*6A (G(590)A), NAT2*7A/B (G(857)A)) and NAT2*14A (G(191)A) and phenotype were determined in 125 patients with colorectal carcinoma and 82 healthy control in Mersin, a city located in the southern region of Turkey. Isolation of the subjects' DNA was performed by using a highly purified PCR template preparation kit/(Roche Diagnostics cat. no: 1 796 828) and the NAT2 polymorphism was detected using real-time PCR (Roche Diagnostics, GmbH, Mannheim, Germany). According to this study high protein intake is associated with the increased risk for the development of colon cancer (OR = 1.73; 95% CI, 1.10-3.07). Although only NAT2*14A fast type was associated with increased risk in patients with colorectal carcinoma (OR = 3.03; 95% CI, 1.56-5.86), when a high protein diet was considered, NAT2*7A/B fast genotype was also found to be associated with an increased risk (OR = 2.06, 95% CI for NAT2*7A/B, 1.10-3.86; OR = 2.65; 95% CI, 1.29-5.46 for NAT2*14A). Smoking status did not differ between the control and patient groups. Our data suggest that exposure to carcinogens through consumption of a high-protein diet may increase the risk of colorectal carcinoma only in genetically-susceptible individuals.     

Lichen biota of West Siberia

The author has surveyed the diversity of lichen biota of West Siberia and distribution of lichens over its two geographic parts: the West Siberian Plain and the mountain frame in the south of West Siberia. The diversity of lichen biota in entire West Siberia is currently estimated at 1845 species in 325 genera and 95 families. The diversity of the West Siberian Plain is estimated at 1421 species in 271 genera and 86 families, and that of the southern mountains of West Siberia, at 1682 species in 312 genera and 94 families.     

Greenhouse gas emission in West Siberia

The major gases contributing to the greenhouse effect are carbon dioxide and methane (60 and 15–18%, respectively). The former Soviet Union area accounts for 11% of the global methane flux on the average. However, virtually no records of methane flux were kept in Russia in the late 1980s-early 1990s. Inventories of methane emission in Russia were reported in the middle 1990s, but those data were confined to measurements performed by the early 1990s. This paper presents generalized data on methane and carbon dioxide emission from the surfaces of marsh ecosystems in West Siberia in the 1990s, when the majority of measurements were carried out.     

A phytogeographic analysis of birch woodlands in the southern part of West Siberia

A minimum variance cluster analysis of 87 species of vascular plants occurring in south Siberian birch woodlands, based on their total distribution ranges, grouped them into 9 phytogeographic elements. The main distribution patterns of each element are illustrated by means of maps obtained by automatic mapping programs, showing the joint occurrence of the species of each element on a world scale. The results indicate a predominance of Eurasiatic-temperate taxa. The south Siberian birch woodlands can be considered as the easternmost extensions of the European deciduous forest belt, which in Siberia is compressed between the taiga biome in the north and the steppe biome in the south. The marginal position of Siberian Betula stands is reflected by the persistence of plants which are ecologically marginal with respect to true forest vegetation; most of the Eurasiatic species are typical, in Europe, of forest-meadows and forest-margins.     

Silent cholinesterase gene: three homozygotes in a small Caucasian population.

Three sera, showing only a 2-3% of the usual cholinesterase activity and belonging to two families of 800 Caucasian inhabitants of the same small town, were classified as type II silent cholinesterase genes by polyacrylamide slab gel electrophoresis, dibucaine and fluoride number and by their specific activity with acetyl- butyryl- or propionyl-thiocholine.     

Characteristics of opisthorchiasis foci in southern West Siberia

Natural foci of opistorchiasis were studied in southern West Siberia. It has been shown that the foci are of two biocenotic groups: floodplain-river and lake-interfluve. The main difference between them is that in the former intermediate hosts of opistorchides are commercial Cyprinidae fish and final hosts are humans and domestic carnivores, whereas in the latter, intermediate hosts are noncommercial Cyprinidae fish, wild carnivores, and muskrat. Floodplain-river foci are associated with river basins in the north of Baraba, big and small tributaries of the Ob and Irtysh rivers, as well as euthrophic lakes within floodplains of the rivers. Lake-interfluve foci are associated with euthrophic and dystrophic lakes in the river floodplains which do not communicate with the Ob-Irtysh water system. They are located in North Kulunda and in the south of Baraba lowland.     

Restriction site polymorphisms at the human HepG2 glucose transporter gene locus in Caucasian and west Indian subjects with non-insulin-dependent diabetes mellitus

Digestion of human genomic DNA with the restriction enzyme StuI revealed a 2-allele polymorphism with a human HepG2 glucose transporter probe. Bands of 3.2 kilobases (kb; S1 allele) and 2.6 kb (S2 allele) were observed. The genotype frequencies were investigated in 2 non-insulin-dependent diabetic populations. The genotype frequencies of S1S1, S1S2 and S2S2 were 6, 42 and 52% among Caucasian diabetic subjects (n = 48), and 11, 38 and 51% in 47 controls, respectively. In West Indian diabetic patients (n = 48), the genotype frequencies were 17, 54 and 29%, and for 36 controls they were 25, 33 and 42%, respectively. The polymorphism information content of this restriction fragment length polymorphism (RFLP) is 0.32 in Caucasians and 0.37 in West Indians, respectively. There was no significant difference of allele or genotype frequencies between the diabetic patients and non-diabetic controls in either group. Haplotype analysis of the StuI and XbaI RFLPs showed that there was also no significant difference in the frequencies of the four different haplotypes S1X1, S1X2, S2X1 and S2X2 between the patients and controls. However, there was a difference for the frequency of the S1 allele between Caucasians (controls 30%, patients 27%) and West Indians (controls 42%, patients 44%). There was also a significant difference in the frequency of haplotype S2X2 between these two racial groups (controls 48%, cases 51% for Caucasians, and controls 33%, cases 22% for West Indians).     

Chromosomal Q-heterochromatin regions in the indigenous population of the northern part of West Siberia and in new migrants

The variability of Q-heterochromatin regions (Q-HR) was studied in native residents of the northern part of West Siberia, viz Yakuts (n = 127), Selkups (n = 90) and Khants (n = 54), as well as in newcomers including oil-borers (n = 43) and children (n = 113) living permanently in this part of the USSR. The major quantitative characteristics of chromosomal Q-HR variability were shown to be very similar in oil-borers and natives, and this is considered to be the result of specific selection of individuals according to the amount of Q-HRs in their genome. The hypothesis on the possible selective value of chromosomal Q-HRs in human adaptation to extreme environmental conditions of the extreme north is discussed.     

The association between N-acetyltransferase 2 gene polymorphisms and pancreatic cancer

Pancreatic cancer has been linked with exposure to environmental chemicals, which generally require metabolic activation to highly reactive toxic or carcinogenic intermediates. N-acetyltransferase 1 (NAT1) and N-acetyltransferase 2 (NAT2) are expressed primarily in extrahepatic and hepatic tissues, respectively. Both enzymes catalyze N- and O-acetylation of aromatic and heterocyclic amines. It is believed that these compounds are activated via O-acetylation and detoxified by N-acetylation. Several polymorphisms of these two genes have been associated with an increased risk of cancer. Twenty-seven cases of pancreatic cancer and 104 controls were included in this study. Blood was collected in EDTA-containing tubes, and genomic DNA was extracted from the white blood cells by using a high pure PCR template preparation kit. Genotyping of NAT2 polymorphisms was detected by a real time PCR instrument. There was a significant difference in the distribution of the NAT2*6A acetylators phenotype between cases and the controls. The odds ratio of pancreatic cancer for the NAT2*6A slow phenotype was 5.7 (95% CI = 1.27-25.55; p = 0.023) compared with the fast type. Our results suggest that slow acetylators have higher risk of developing pancreatic cancer than fast acetylators. NAT2 gene polymorphisms may be associated with genetic susceptibility to pancreatic cancer.     

Pedigree analysis in evaluating gene frequency in aboriginal populations of Siberia]

Procedure is described to estimate allele frequencies in indigenous populations of Siberia using phenotype data not only for "pure-blood" representatives of the ethnic groups examined, but also for the descendants of mixed marriages. Implementation of the method requires reconstruction of the data on relatives for the sample examined. Inclusion of the data on descendants of mixed marriages into the analysis increases the sample information content and decreases variance of the estimates obtained. The advantages of the method are illustrated using an example of Tundra Nentsy, for whom it was shown that variance of estimates at the analysis of the blood groups allele frequencies can be diminished approximately by a factor of 1.5.     

Polymorphic analysis of CYP2C9 gene in Vietnamese population

Molecular Biology Reports - Genetic variations in CYP2C9 are associated to inter-individual variability of drugs metabolism and response. The only report has been done previously mainly focusing on...     

Association of peroxisome proliferator-activated receptor γ Pro12Ala gene polymorphism with type 2 diabetic nephropathy risk in Caucasian population

Abstract

Association of peroxisome proliferator-activated receptor gamma (PPARγ) Pro12Ala gene polymorphism with type 2 diabetic nephropathy (T2DN) risk in Caucasians is still not clear. This investigation was conducted to assess if there was an association between the PPARγ Pro12Ala gene polymorphism and T2DN risk in Caucasians using meta-analysis. The relevant literatures were identified from PubMed, and Cochrane Library on 10 October 2013, and eligible studies were included and synthesized. Six reports including eight studies were recruited into this meta-analysis for the association of the PPARγ Pro12Ala gene polymorphism with T2DN risk in Caucasians. The Pro/Pro genotype was shown to be associated with T2DN risk in Caucasians. However, the Ala/Ala genotype and Ala allele were not associated with T2DN risk in Caucasians. In the sensitivity analysis, according to the control source from hospital, the control source from population, the genotyping methods using PCR-RFLP, Taqman, sample size of case <100, the association of the PPARγ Pro12Ala gene polymorphism with T2DN risk was similar to those in non-sensitivity analysis. In conclusion, the PPARγ Pro/Pro genotype was associated with T2DN risk in Caucasians, but the Ala/Ala genotype and Ala allele not. However, additional studies are required to firmly establish a correlation between the PPARγ Pro12Ala gene polymorphism and T2DN risk in Caucasians.