Distribution of Polymorphic Markers of Genes Encoding the Renin-angiotensin System (ACE, AGT, AGTR1), ITGB3, PPARG, Pparg in Patients With Essential Hypertension Depending on the Age

Essential hypertension (EH) is a multifactorial disease with a hereditary predisposition. Genes encoding the renin-angiotensin system (RAS) play a leading role in the stabilization of elevated BP in the course of EH, which determines the relevance of our clinical and genetic study. The study was based on the determination of the frequencies of polymorphic markers of the AGT, AGTR1, ACE, ITGB3, PPARG genes in 2 groups, depending on the age of patients (up to 60 years - group1, n=18, and after 60 years - group2, n=31), for the intergroup frequencies comparison and comparison of group frequencies with population data. Genotyping by gene polymorphisms was performed by real-time polymerase chain reaction. 24-hour ambulatory BP monitoring (ABPM) and Holter HR monitoring were conducted. Phenotypic features of the course of EH were accompanied by changes in the frequency characteristics of the studied genotypes. In patients of group 1, an increase in the frequency of protective genotypes of the ACE(II) and ITGB3(TT) genes was observed (p=0.004;0.015), which confirms the hypothesis of a possible favorable course of EH in patients under 60 years.

Study of Parental Polymorphism and Allelic Variation for Grain Quality and Yield Traits in Rice (Oryza sativa L.) Using SSR Markers

Aim: Identification of polymorphic markers is prerequisite for conducting any QTL mapping experiment because if the parents are polymorphic for the traits of interest, then further selection of plants in the progenies becomes easy. Hence, the objective of the present study was to identify polymorphic markers for grain quality and yield traits among the parental lines Improved Samba Mahsuri and Badshabhog. Place and Duration of Study: It was carried out at Molecular Breeding Lab, Department of Genetics and Plant Breeding, Institute of Agricultural Sciences, Banaras Hindu University, Varanasi - 221 005, India, during 2019. Methodology: Two parents Improved Samba Mahsuri and Badshabhog were used for the present study. The DNA extraction was done as per the CTAB method suggested by Murray and Thompson. Standard PCR protocol was followed. Results: For parental polymorphism survey, a total of 576 randomly selected SSR markers including 26 gene specific markers related to aroma, cooking and eating quality, grain dimension and yield related traits distributed across the 12 chromosomes of rice were used. Overall, 96 markers including 4 gene specific markers were found to be polymorphic between the two genotypes indicating a total polymorphism percentage of 16.67%. The highest polymorphism percentage was recorded on chromosome 6 (26.67%) followed by chromosome 4 (21.43%) and the lowest polymorphism percentage was observed on chromosome 10 (8.93%). The gene specific markers nksbad2, ARO7, BADEX7_5 and SSI were found to be polymorphic. Conclusion: Based on the present study it may be concluded that the polymorphic markers identified will further be utilized in genotyping of F2:3 population, linkage analysis and mapping QTL’s for grain quality and yield traits.

Disentangling potential genotypes for macro and micro nutrients and polymorphic markers in Chickpea

Background- The present investigation was conducted to assess the nutritional diverseness and identify novel genetic resources to be utilized in chickpea breeding for macro and micro nutrients. Methods-The plants were grown in randomized block design. Nutritional and phytochemical properties of nine chickpea genotypes were estimated. The EST sequences from NCBI database were downloaded in FASTA format, clustered into contigs using CAP3, mined for novel SSRs using TROLL analysis and primer pairs were designed using Primer 3 software. Jaccard’s similarity coefficients were used to compare the nutritional and molecular indexes followed by dendrograms construction employing UPGMA approach. Results- The genotypes PUSA-1103, K-850, PUSA-1108, PUSA-1053 and the EST-SSR markers ICCeM012, ICCeM0049, ICCeM0070, ICCeM0078, SVP55, SVP95, SVP96, SVP146, SVP213 & SVP217 were found as potential donor / marker resources for the macro-micro nutrients. The genotypes differed (p<0.05) for nutritional properties. Amongst newly designed primers, 6 were found polymorphic with median PIC (0.46). The alleles per primer ranged 1 to 8. Cluster analysis based on nutritional and molecular diversities partially matched to each other in principle. Conclusion-The identified novel genetic resources may be used to widen the germplasm base, prepare maintainable catalogue and identify systematic blueprints for future chickpea breeding strategies targeting macro-micro nutrients.

Polymorphism parental survey in three Indonesia improved varieties to support development of new submergence tolerant varieties

Submergence by flooding caused damage in rice growing areas and huge economic loss, and developing tolerant varieties is considered as the best approach to overcome the problem. Markers Assisted Backcrossing (MABC) approach is widely to develop Sub-1 tolerant varieties. The availability of polymorphic markers is among the most crucial requirement to implement the MABC method. This research was subjected to assess DNA polymorphism between IR64Sub1 and tree Indonesian popular varieties. A total of 136 microsatellites/simple sequence repeat markers were used to genotype tree Indonesian popular varieties; Cisantana, Angke and Mekongga and IR64-Sub1. A total of 39 markers covering 11 chromosomes were found polymorphic between IR64 Sub-1 and the three varieties, however no polymorphic markers found in chromosome 12. The lack polymorphic markers were also found in chromosome 10 and 11 between IR64 Sub 1 and Angke. With the completion of the missing markers, these 39 polymorphic SSR markers can be utilized to support the MABC program for the development of new Sub-1 tolerant variety with multiple tolerances.

Association of polymorphic loci of susceptibility to diabetes mellitus type 2 in various ethnic groups of the Russian Federation

The multifactorial nature of type 2 diabetes mellitus (T2D) was confirmed by numerous researches. The first investigations devoted to molecular-genetic mechanisms of T2D were carried out on the basis of linkage disequilibrium (LD) studying and later the candidate genes of T2D have begun investigated. We have analyzed the literature data including the case-control studies in populations of Russia. There were revealed 33 genes and 65 polymorphic markers in the analyzed works. The analysis of association of T2D in the ethnic groups of Russian Federation was carried out on following genes: ABCC8, ADIPOQ, ADIPOR1, ADIPOR2, C2CD4A/C2CD4A, CDKAL1, ­CDKN2A/2B, CCL11, CCL20, CCL5, CYBA, FABP2, FTO, GCLC, GPX2, GSTP1, GSTT1, HHEX/IDE, IGF2BP2, IRS1, KCNJ11, KCNQ1, LPL, LRP5, MC4R, PPARG, SLC2A2, SLC30A8, SLC30A8, TCF7L2, TMEM18, WFS1, ZFAND6. The major of studies are replicative, i.e. repeating previous investigations of foreign authors, and were performed on Russian, Tatar and Yakut populations. At the same time not all the loci of genetic susceptibility have demonstrated the association with T2D in the population of Russia. In this work the systematic review of studies of molecular-genetic markers of T2D in the ethnic groups of Russian Federation was made for the first time.

Panel of genetic markers for predicting the risk of developing dry eye disease of various etiologies

Introduction. World statistics indicate an increase in patients, including young people, suffering from dry eye disease (DED). Along with exogenous factors, the development of DED depends on a genetic predisposition. Changes in the expression of genes PTPN22, TRIM21, directly or indirectly affecting the T-cell link of immunity, leads to overproduction of cytokines and, as a consequence, damage to the ocular surface.This study aimed to design a diagnostic panel of genetic markers to determine the risk for DED of various etiologies development.Materials and methods. The study included 154 patients with autoimmune diseases with and without established DED. With a diagnosis of rheumatoid arthritis (RA) n = 79 and primary Sjogren’s syndrome (PSS) n = 75. The control group consisted of 100 people without ophthalmic diseases, 31 patients with exogenous DED. In this study, we use melting curve analysis to confirm the results of the association analysis for polymorphic markers in genes.Results. The prognostic value of the predisposing genotypes of the TRIM21 gene of the markers rs915956 and rs7947461 with the risk of DED in the presence of RA (p ≤ 0.001), the marker rs4144331 at the tendency level (p ≤ 0.1) was determined. The risk of developing DES against the background of PSS is associated with the presence of the predisposing genotypes of the TRIM21 genes, the rs4144331 marker, and the PTPN22 rs33996649 marker (p ≤ 0.001). The association of polymorphic markers of the TRIM21 rs7947461 gene and the PTPN22 gene of the rs33996649 marker (p ≤ 0.01) with the risk of developing exogenous DED was established.Conclusions. The predisposing genotypes were identified and the associations of polymorphic markers of the TRIM21, PTPN22 genes were established. A diagnostic panel of genetic markers has been created to predict DED of various etiologies.

COMPLEX ASSOCIATION ANALYSIS OF ANTIOXIDANT GENES POLYMORPHIC DNA-MARKERS WITH AGE IN THE ETHNIC GROUP OF ABKHAZIANS

Впервые в этнической группе абхазов выполнен анализ ассоциаций полиморфных ДНК-маркеров генов антиоксидантной системы CAT (rs1001179), MSRA (rs10098474), GPX1 (rs1050450), GSR (rs1002149), GSTP1 (rs1695), SOD1 (rs2070424), SOD2 (rs4880), PON1 (rs662), PON2 (rs7493) с возрастом. С использованием ROC-анализа и логистической регрессии установлено, что спектр частот аллелей и генотипов полиморфных маркеров генов PON1 и GSTP1 меняется на протяжении всего исследуемого возрастного периода (21 107 лет); распределение частот аллелей и генотипов по полиморфным маркерам генов CAT и SOD2 изменяется на рубеже 60 лет. Методом Монте-Карло марковскими цепями определены мультилокусные генетические маркеры долголетия. У лиц 60-107 лет статистически значимо повышена частота встречаемости паттернов GSTP 1* G/G + PON 1* G ( OR =6,59, PFDR =0,018) и GSTP 1* G/G + SOD 1 *A ( OR =3,4, PFDR =0,041); аллель GSTP 1* A в разных комбинациях с аллелями PON 1*A, PON2 * C и CAT * C встре чается реже (OR=0,3, PFDR<0,05). For the first time in the ethnic group of Abkhazians, the association analysis of polymorphic DNA-markers of the antioxidant genes CAT ( rs 1001179), MSRA ( rs 10098474), GPX 1 ( rs 1050450), GSR ( rs 1002149), GSTP 1 ( rs 1695), SOD 1 ( rs 2070424), SOD 2 ( rs 4880) , PON 1 ( rs 662), PON 2 ( rs 7493) with age was performed. Using ROC-analysis and logistic regression, it was found that the spectrum of alleles and genotypes frequencies of PON 1 and GSTP 1 genes polymorphic markers change throughout the studied age period (21-107 years old); the distribution of allele and genotype frequencies of CAT and SOD 2 genes polymorphic markers changes within the age of 60 years. Multilocus genetic markers of longevity were determined by the Monte Carlo Markov chain method. Among persons in the age range 60-107 years, the frequency of observation of the patterns GSTP 1* G/G + PON 1* G ( OR =6,59, P FDR=0,018) and GSTP 1* G/G + SOD 1 *A ( OR =3,4, P FDR=0,041) is statistically significantly increased; the GSTP 1* A allele in various combinations with the PON 1* A , PON 2* C and CAT * C alleles are less common ( OR =0,3, P FDR<0,05).

Are Shell Strength Phenotypic Traits in Mussels Associated with Species Alone?

Mussels often hybridise to form the Mytilus species complex comprised of M. edulis and M. galloprovincialis as the main species cultivated in Europe and, where their geographical distribution overlaps, the species M. trossulus. It has been suggested that M. trossulus have a weaker shell than the UK native M. edulis and hybridisation reduces farmed mussel yields and overall fitness. Here, we investigate the hypothesised link between species and shell weakness, employing multi-locus genotyping combined with measurements of six different phenotypes indicative of shell strength (shell thickness, flexural strength, Young’s modulus, Vicker’s hardness, fracture toughness, calcite and aragonite crystallographic orientation). Historic evidence from shell strength studies assumed species designation based on geographical origin, single locus DNA marker or allozyme genetic techniques that are limited in their ability to discern hybrid individuals. Single nucleotide polymorphic markers have now been developed with the ability to better distinguish between the species of the complex and their hybrids. Our study indicates that shell strength phenotypic traits are less associated with species than previously thought. The application of techniques outlined in this study challenges the historic influence of M. trossulus hybridisation on mussel yields and opens up potential for the environment to determine mussel shell fitness.