Научная статья на тему 'Definition the frequency of gene polymorphism G2014 А ESR-α and its significance in the pathogenesis of osteoporosis'

Definition the frequency of gene polymorphism G2014 А ESR-α and its significance in the pathogenesis of osteoporosis Текст научной статьи по специальности «Биологические науки»

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European science review
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single nucleotide polymorphisms / association / polymorphism rs2228480 / ESR1 gene osteoporosis

Аннотация научной статьи по биологическим наукам, автор научной работы — Karimov Кhamid Yakubovich, Ibragimov Zafar Zokirjonovich, Mukhamedov Rustam Sultanovich, Alimov Timur Raufovich, Boboev Kodirjon Tuxtabaevich

The results of the genetic analysis showed that the frequency of ESR1 gene alleles studied in patients and controls was significantly different. It was revealed that in the basic group the association of polymorphism rs 2228480 ESR1 gene plays an important role in the osteoporosis (OP). The presence of an allele “A” and hetero/homozygous genotypes (G/A and A/A) of this polymorphism significantly increases and carrier allele genotype G and G/G lowers the risk of OP

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Текст научной работы на тему «Definition the frequency of gene polymorphism G2014 А ESR-α and its significance in the pathogenesis of osteoporosis»

of hydrophilic cells. The shift of physicochemical properties of bac- Exposure to conversion (shift) of physicochemical properties

teria increases in the range — E.coli<S.aureus<coagulase-negative of bacterial surface in interaction with the innate immunity factors is

staphylococci. typical more for staphylococci than for Escherichia coli.

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DOI: http://dx.doi.org/10.20534/ESR-17-1.2-10-12

Karimov ^amid Yakubovich, Ibragimov Zafar Zokirjonovich, Mukhamedov Rustam Sultanovich, Alimov Timur Raufovich, Boboev Kodirjon Tuxtabaevich, Scientific-Research Institute of Hematology and Blood Transfusion,

Tashkent, Republic of Uzbekistan Institute of Bioorganic Chemistry A. S. Sadykova, Academy of Sciences, Tashkent, Republic of Uzbekistan E-mail: [email protected]

Definition the frequency of gene polymorphism G2014 A ESR-a and its significance in the pathogenesis of osteoporosis

Abstract: The results of the genetic analysis showed that the frequency of ESR1 gene alleles studied in patients and controls was significantly different. It was revealed that in the basic group the association of polymorphism rs 2228480 ESR1 gene plays an important role in the osteoporosis (OP). The presence of an allele "A" and hetero/homozygous genotypes (G/A and A/A) of this polymorphism significantly increases and carrier allele genotype G and G/G lowers the risk of OP.

Keywords: single nucleotide polymorphisms, association, polymorphism rs2228480, ESR1 gene osteoporosis.

Introduction. Osteoporosis (OP) — has a complex pathogen- To date, a number of genes examined, each of which, alone,

esis is multifactorial disease characterized by low bone mass and having little effect in combination with other genes contributes

bone microstructural rearrangement, leading to increased bone to the overall phenotype of the patient. Among many candidate

fragility and risk of fracture [3; 8]. The causes of osteoporosis and genes involved in the regulation of bone metabolism, an important

osteoporotic fractures can be a genetic background, environmental role belongs to the estrogen receptor gene (ESR) [1; 2]. factors and their interaction [3; 6; 7; 9].

Definition the frequency of gene polymorphism G2014 A ESR-a and its significance in the pathogenesis of osteoporosis

The effect of estrogens on bone tissue mediated by their binding to specific receptors localized in the cytoplasm and nucleus of cells. Estrogen receptors belong to the superfamily of nuclear hormone receptors are ligand-inducible transcription factors. Currently we identified two types of estrogen receptors — ESR-a and ESR-p, encoded by a single gene that is expressed in osteoclasts, osteoblasts and stromal cells. There is also evidence of the predominance ESR-a in the cortex, and ESR-p in the trabecular compartment of the bone [4; 5].

Molecular mechanisms of action of estrogen on bone, not-de-spite numerous studies, are not fully understood and require further research [4; 5].

The aim of this study was to determine the association of polymorphism rs2228480 ESR1 gene with the risk of osteoporosis.

Materials and methods of research. In total, this study involved 235 people were living in Uzbekistan, of which 98 patients with OP and the control group consisted of 137 conditionally healthy individuals with no history of fractures.

The diagnosis of OP was set on the basis of clinical, radiological and densitometric studies. Genomic DNA was isolated from peripheral blood samples. DNA extraction was performed using a DNA extraction kit "AmpliPraym Ribo-prep" (LLC "Next-Bio", Russia), in accordance with the manufacturer's instructions. Qualitative and quantitative evaluation of DNA held spectrophotometer NanoDrop-2000 (Th ermo Fisher Scientific, USA).

Testing polymorphic locus 2014G> A (rs2228480), ESR1 gene PCR was performed on a real-time thermocycler Rotor Gene

6000 Model 65N0-100 (Australia) using a test system of "Synthol" Cat. №-NP-551-100 (Russia), in the manufacturer's instructions.

Statistical analysis of the results carried out using the statistical software package «OpenEpi 2009, Version 2.3» and «Doctor Stat 2013".

Results. The statistical analysis of allele frequencies and genotype polymorphism 2014G> A ESR gene between the main and population groups showed statistically significant differences. The frequency distribution of wild homozygous G/G genotype at OP was markedly lower than in the control (49,0% vs. 67,9%, P <0.005, OR = 0.45 [0.27-0.77]), that It can be considered as a protective factor against the risk of OP in carriers of this genotype (Table. 1). Frequency distribution of the genotype heterozygous G/A ESR1 gene in patients with OP up 42.9% (42/98) and 29.9% in the control group (41/137), respectively. (OR = 1,76; 95% CI- [1,02-3,02]).

The frequency distribution of rs2228480 genotype A/A ESR1 gene in patients with OP was 8.1% (8/98) in the control group and 2.2% (3/137) respectively. The criterion x2 between the frequencies of genotypes in groups of patients with osteoporosis and control is at 10.46 df = 2 and p = 0,005, OR = 3.97; 95% CI- [1,03-15,4]. According to the calculated odds ratio the presence of unfavorable genotype A/A significantly increases the risk of OP in 4.0 times (Table. 1). The findings the genotypes G/G + G/A and showed that in patients with OD and the control group was 91.8 (90/98) and 97.8 (134/137), respectively (OR = 0,25; P = 0,03, x2 = 4,57; 95% CI 0,07-0,98). The findings suggest that there is a protective effect of genotype G/G + G/A in relation to the OP.

Table 1. - The distribution of genotypes and allele frequency of polymorphism G/A ESR1 gene in the population and in patients with osteoporosis

Alleles and genotypes The population sample (n=137) Osteoporosis (n=98) x2 p OR 95% CI

n % n %

G 227 82,8 138 70,4 10,2 0,001 0,49 0,32-0,76

A 47 17,2 58 29,6 2,03 1,31-3,15

G/G 93 67,9 48 49,0 0,45 0,27-0,77

G/A 41 29,9 42 42,9 10,5 0,005 1,76 1,02-3,02

A/A 3 2,2 8 8,1 3,97 1,03-15,4

G/G+G/A 134 97,8 90 91,8 4,57 0,03 0,25 0,07-0,98

G/A+A/A 44 32,1 50 51,0 8,51 0,004 2,20 1,29-3,76

At the same time, examining the genotypes of G/A + A/A, we obtained the following values of the indicators in the group with control and OP: 51.0 (50/98) and 32.1 (44/137), which indicates that genotype data statistically significantly increased risk of OD 2.2 times (OR = 2,2; p = 0,004, x2 = 8,51; 95% CI 1,29-3,76).

As a result of statistical analysis of polymorphism rs 2228480 alleles of ESR gene showed that the frequency of occurrence of G allele is Osteoporosis in 70.4%, whereas in the control group, 82,8% (OR = 0,49; 95% CI-0,32-0, 76). The study also revealed that detection of the unfavorable allele «A» Group to OP and control was

29.6% and 17.2%, respectively (x2 = 10.2; p = 0,001; OR = 2,03; 95% CI 1,31-3,15).

Thus, the above results indicate a unique association ESR-a gene polymorphism G2014A with osteoporosis risk.

Conclusion:

1. Our results suggest an important role of the polymorphism rs2228480 ESR1 gene in the formation of OP.

2. The presence of an allele "A" and hetero/homozygous genotypes (G/A and A/A) of this polymorphism significantly increases and carrier allele genotype G and G/G lowers the risk of OP.

References:

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2. Bi-Hua Cheng. et al. Association between single nucleotide polymorphisms of the estrogen receptor 1 and receptor activator of nuclear factor kappa B ligand genes and bone mineral density in postmenopausal Taiwanese//Taiwanese Journal of Obstetrics & Gynecology, - 2013. - Vol. - 52 - P. 197-203.

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9. World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases - 26-29. - March - 2015. - Milan, Italy.

DOI: http://dx.doi.org/10.20534/ESR-17-1.2-12-17

Tursinbaeva Gulbakhor Sultanovna, Pedagogical State University name Nizami, Uzbekistan, Tashkent E-mail: [email protected]

The growing and branching model of ephemera of central Asia

Abstract: It has been described a model of branching and growing of 22 species of ephemers from 4 families: Asteraceae, Brassicaceae, Chenopodiaceae, Fabaceae of Kyzylkum desert. It has been distinguished 5 types of shoots growing: monopodial with apical and lateral-apical dominance, hemisympodial, sympodial and pseudo dichotomy in generative period of ontogenesis. It has been given a range of variety signs by 8 morphological indexes. The description was confirmed by 19 figures — schemes. It has been noted a predominance basitonic branching.

Keywords: growing model, branching, generative period, ephemer, Kyzylkum.

Introduction

The shoot system structure is an important characters hereditary fixed feature of biomorphs, reflecting of meristem the activity in the growing. F. Halle (1975) has invented the term and defined the porpoise of "architectural model" as accounting of structure formation, i. e. growing strategy, fixed by the genetic code. "Architectural model" — is not a synonym of life forms, but one of its essential indexes, visually reflecting the formation process.

Material and methods

At determination of the growing and branching models, we proceeded from the definition of I. G. Serebryakov (1964), A. E. Vasi-lyev et al. (1988) and M. V. Markov (1989) for herbaceous plants. On the basis of growing, branching and growing analysis among ephemera, it has been distinguished 5 architectural models dramatically differ in growing form and habitus.

Results and discussion

I. Monopodial growing with apical dominance, type of

L2<1/2/L1( L1-shoots ofthefirst order;L2- shoots ofthe secondorder) . It includes plants with clear terminal (apical) domination, well-developed the 1-order shoot.

Isatis minima. Height ofthe plant upon the average is 18,5 (1285) cm. First internodes shortened, following elongated — 2-3 cm alternate. Acrotonic branching, up to II orders. The length of the shoots of the II order — 1-3 cm. Number of metameres on the shoots of the I order — 10 -14, on the shoots of the II order — 4.

Isatis violascens. Height of the plant upon the average is 35 (14-60) cm. First 3 internodes shortened, following internodes 2,0-2,5 cm long, alternate nodes. Branching is mesotonic to 2 orders. The II order shoots of 1.5-5 cm (up to 8) in length. On the I order shoots ofwith 8-12 metameres, on the II order shoots ofwith 2-14metamers (Fig. 1 a, Table 1.).

Senecio subdentatus. Height of the I order shoot are 18-25 cm. Acrotonic branching to the II order, nodes are alternate. Lower

10-12 internodes are shortened, length is 0,5-1 cm, following internodes up to 2-5 cm. Branching is to 2-3 orders (Fig. 1 b).

II. Monopodial growing with lateral-apical dominance

L2<L1-

Consolida paradoxa. Plant height of 15-20 cm. Basitonic branching to III orders. Alternate nodes. Internodes of the I order 1.5-2.5 cm in length. The II order shoots are sparse (1-2), 1-8 cm in length (Fig. 1).

Strigosella africana. Height of the I order shoot 7-15 cm. Mesotonic branching with 3 nodes to 2-3 orders. Lower nodes close together, internodes — 0.5 cm in length, following, alternate internodes — 1-3 cm in length. The II order shoots up to 12 cm in length with 7-10 metameres (Fig. 1 e, 3 a).

Strigosella grandiflora. The I order shoots upon the average is 35 cm (8-80) in height. Basitonic and mesotonic branching up to III-IV orders. At the base of the I order shoot nodes close together, leaves form a rosette. Sometimes branching starts with a cotyledonary node. Above internodes elongated: 1.5-4 cm. On the shoots of the I and II orders long internodes alternating with short (Fig. 3 b).

Londesia eriantha. Height of the I order shoot of 7-15 cm. Basitonic branching to 2-3 orders. Lower nodes close together, following internodes 1-1.5 cm long. On the I order shoots 15-25 metameres, on the II order shoots 10-18. Long internodes sometimes alternate with shorter (Fig. 1d).

Tetracm e recurvata. Height the I order shoot of 7-10 cm. Basitonic branching to the II orders. Lower nodes close together, 3-5 internodes 1-2 cm long. There is an alternation of long and short internodes. On the shoot of the I order 15-25 metameres on the shoot of the II order 7-12 metameres (Fig. 1g).

III. Hemisympodial growing with apical-lateral dominance L;=L2 The I order shoot developed, but not exceed II order shoots, which are equal to or greater than the length.

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