Genetic association between two Estrogen Receptor 2 (ER2) Gene Polymorphism (rs4986938 and rs1256049) and SYNTAX Score in Patients with Coronary Artery Disease: A Report from Southern Iran

Background One of the most common causes of death in the world is coronary artery disease (CAD). Estrogen, the most important early sex hormones in women, plays an important role in the risk reduction of cardiovascular disease (CVD). Expression of estrogen as well as its receptorsˈ including estrogen receptor alpha (ER1) and estrogen receptor beta (ER2) might have an association with the severity or complexity of CAD. Since most articles have focused on the relationship between ER1 gene polymorphism and CAD, in this study we aimed to evaluate the association of two ER2 gene polymorphisms, AluI and RsaI, with severity of CAD. Methods 148 patients with confirmed CAD who underwent elective percutaneous coronary intervention (PCI) were included in this study. Blood samples were collected before coronary angiography and ER2 gene polymorphisms were analyzed by the PCR-RFLP method. The STNTAX Score (SS), grading system for CAD complexity, was evaluated by an interventional cardiologist who was blinded to other data. Results 110 men and 38 women were participated in this study. Our results revealed a statistically significant relationship between SS and RsaI polymorphism of ER2 (p = 0.01). In contrast, there was no association between AluI genotypes and SS. Conclusions Besides to estrogen level, the genetic variation of its receptors might play an important role in the severity or complexity of CAD. According to our results, RsaI polymorphism of ER2 gene may assert a pivotal role in the severity of CAD; however this assumption needs to be proved in studies with a larger population.

Study of RsaI polymorphism of the ERβ gene in Greek women with endometriosis

Estrogens and estrogen receptors (ERs) play an important role in the pathogenesis of endometriosis. The aim of this study was to investigate the presence of gene polymorphism RsaI in the gene of the estrogen receptor ERβ in the Greek female population, and its distribution in women suffering from endometriosis and in a control group. We included 67 consecutive infertile women of Caucasian origin who were operated laparoscopically in our Gynecological Endoscopy Unit for endometriosis, and 96 women participated as control group. Patients were genotyped for RsaI (G/A, rs1256049) polymorphism in ESR2 exon 5, using real-time PCR. The patients’ genotype distribution did not differ from the control group. There were no women homozygous for the polymorphic allele in neither group. The different genotypes of ESR2 could not be associated with the stage of endometriosis. The data of this study point that in Greek population who had proven endometriosis the determination of RsaI polymorphism of ESR2 gene doesn’t offer any information for the progression of endometriosis, regarding the genetic profile of this particular gene.

Genetic structure features of cattle populations of Ukrainian selection by polymorphism of loci, associated with milk productivity traits

Aim. To study the genetic structure of cattle populations of Ukrainian selection by polymorphism of functional genes (PRL, PL) and microsatellites (BM027, RM185). Methods. The study was conducted using the method of polymerase chain reaction (PCR) and restriction analysis in case of loci PRL and PL, and using classic PCR with subsequent electrophoresis in polyacrylamide gel to analyze microsatellite variability. Results. The results of the studies demonstrated that the locus of prolactin by RsaI-polymorphism in the fourth exon was polymorphic in both experimental populations (Ukrainian Black-and-White and Ukrainian Red-and-White dairy breeds of cattle). The mutation (Indel) was fi rst determined in the fourth exon of prolactin gene, the variants of which correlated with some alleles of the locus by RsaI-polymorphism. The locus of placental lactogen by RsaI-polymorphism in the fi fth exon was monomorphic in both experimental populations. Microsatellite locus RM185 was polymorphic in both groups of animals, whereas BM027 – only in the Black-and-White dairy breed. Conclusions. The specifi cities of the genetic structure of the Ukrainian Black-and-White and Red-andWhite dairy breed populations by polymorphism of functional genes and microsatellite loci were determined. The locus of placental lactogen by RsaI-polymorphism in the fi fth exon cannot be used in further studies due to the absence of alternative variants of the gene in both studied populations of animals. The analysis of the distribution of haplotype frequencies demonstrated the absence of deviation from the equilibrium state by linkage for each of the investigated markers which makes their use impossible in the breeding programs as a separate functional unit.

Analysis of GH1, GHR and PRL gene polymorphisms for estimation of the genetic diversity of Buryat and Altai cattle breeds

Small and unique Buryat and Altai cattle breeds of TuranoMongolian origin are well adapted to harsh conditions of the continental climate to be their habitat. However, the population-genetic structure of the breeds has been poorly studied. This paper presents the results of analysis of polymorphisms GH1 (AC_000176.1: BTA 19, exon 5, rs41923484, g.2141C>G, L127V), GHR (AC_000177.1: BTA 20, exon 10, rs109300983, g.257A>G, S555G) and PRL (AC_000180.1: BTA 23, exon 3, g.35108342A>G) in the samples of Buryat cattle breed of Russia, China and Mongolia, and indigenous Altai cattle breed (Russia) that belong to TuranoMongolian cattle. The Russian sample of Buryat breed was differentiated from the Mongolian sample based on pairwise G-test and FST values for the PRL-RsaI polymorphism and from the Chinese sample – based on pairwise G-test values for the GH1-AluI polymorphism. All the three samples of Buryat breed clearly differed from the sample of Altai breed based on pairwise G-test and FST values for the GHR-AluI polymorphism as well as on the base of FST values for the joint polymorphism of the three genes. Nei’s genetic distances calculated from the three gene polymorphisms also confirmed the difference between the two breeds. The results of AMOVA demonstrated that GHR gene variability (16 %) gave the largest contribution to the differentiation that was confirmed by FST values (0.12–0.27). The STRUCTURE software enabled us to reveal four clusters, with a specific ratio for each sample, in the Chinese and Mongolian samples of Buryat breed, and in the sample of Altai breed, while the Russian sample of Buryat breed had only three clusters. The differences within the breed level were determined based on the GH1-AluI and PRL-RsaI polymorphisms, while at the inter-breed level – based on the GHR-AluI polymorphism. Linkage disequilibrium analysis demonstrated significant linkage of the following pairs of genes in the Buryat breed: GH1-GHR, GH1-PRL, GHR-PRL.

The influence of CAST/MspI, HinfI, RsaI polymorphism on production traits in pigs

The aim of this study was to perform the CAST gene polymorphism genotyping and to verify its possible influence on the quantitative and qualitative indicators characterizing carcass value in pigs. The study found a significant effect of the CAST gene on carcass value. In the case of alelle A present in the CAST/HinfI gene there was a higher lean meat share (i.e. lower fat content) and therefore the detected quality of pork meat was lower. The significant differences were found between the homozygotes AA and heterozygotes AB, mainly in the amount of fat content (P?0.05). Concerning the CAST/MspI gene, it was found that genotype CD caused higher lean meat share due to the higher shares of muscles in the main meat parts. However higher lean meat share does lead to lower quality of the meat. Another discovered influence was that of the allele D, which was associated with the intramuscular fat content (IMF) in the neck (P?0.05). Our results also show signifiant influence (P?0.05) of the allele C on the qualitative indicators of pork meat (MS EC50). Concerning the CAST/RsaI polymorphism, the study proved that this polymorphism doesn?t influence any of the monitored qualitative parameters.