Genetic association of apolipoprotein E with optic disc size

INTRODUCTION. The purpose of this clinical non-interventional cross-sectional study was to evaluate the role of apolipoprotein E (ApoE) gene alleles (e2, e3, e4) in the determination of optic disc size. MATERIALS AND METHODS. In 32 normal controls, 54 patients with ocular hypertension (OHT), and 96 patients with primary open-angle the optic disc size was determined by planimetry using 15° colour stereo photographs. In all individuals ApoE genotyping was performed. RESULTS. The size of the optic disc was significantly different between subjects with e3e2, e3e3, and e4e3 allele (Kruskal-Wallis-test, Chi-Square: 6.95, p = 0.031; 2.39, 2.77, and 2.78 mm2, respectively). CONCLUSIONS. The results suggest that ApoE gene alleles are associated with optic disc size. ApoE may act as a modulator gene for optic disc morphogenesis

Association of polymorphisms in APOE, p53, and p21 with primary open-angle glaucoma in Turkish patients

Purpose To investigate the association between Apolipoprotein E (APOE), tumor suppressor protein p53 (p53), and cyclin-dependent kinase inhibitor 1A (p21) genes and primary open-angle glaucoma (POAG) in a cohort of Turkish subjects. Methods Seventy-five POAG patients (49 women, 26 men) and 119 healthy subjects (67 women, 52 men) were genotyped with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Allele and genotype frequencies between healthy subjects and glaucoma patients were compared by the χ2 test, and intraocular pressure (IOP), cup/disc ratio (C/D) and visual field indices (MD and PSD) were compared among different APOE, p53, and p21 genotypes in POAG group. A p value 0.05). POAG subjects with the ε2ε3 genotype had a worse PSD value (median=2.2) than those with the ε3ε4 genotype (median=1.77; p=0.01) and POAG subjects with the ε3ε3 genotype had worse MD and PSD values (median= -7.4 and 3.4, respectively) than those with the ε3ε4 genotype (median= -4.1 and 1.77, respectively; p=0.034 and 0.028, respectively). Conclusions Our study found no link between polymorphisms in APOE, p53, and p21 genes and POAG in Turkish patients, although a larger sample is required to elucidate the role of these polymorphisms in the pathogenesis and course of glaucoma

In silico identification and characterization of Kaurene Synthase protein in Stevia rebaudiana MS007

Stevia rebaudiana (Sr), belonging to Asteraceae family is a plant native to Paraguay. It is currently being used as a healthier alternative for sugar. Sr produces steviol glycosides (SGs), a group of secondary metabolite compounds that is responsible for its sweetening taste. SGs act as sweetener due to the presence of two major compounds, Stevioside and Rebaudioside A. Biosynthesis of these compounds involve enzymes such as geranylgeranyl pyrophosphate (GPPS), copalyl diphosphate synthase (CPPS), kaurene synthase (KS) and kaurene oxidase (KO) in the pathway. In this study, the identification and characterization of Stevia rebaudiana MS007 kaurene synthase (SrKS) were done by in silico analysis of the transcriptomic dataset. Homology search from BLASTx resulting in SrKSfrom query Cluster-31069.42907 (Sr MS007) of transcriptomic dataset shows the highest similarity percentage identity (99.62%). ExPasy tools were used to translate the nucleotide sequence into protein sequence. The protein domain is predicted by protein domain search analysis using Interpro and shows IPR005630 (terpene synthase metal-binding domain) available at positions 454 to 719 and IPR001906 (terpene-synthase-N-terminal-domain) at position 222 to 411 as the domains. In constructing the phylogenetic analysis tree, multiple sequence alignment was initially done using MUSCLE and MEGA-X was used as phylogenetic tree analysis tools. Cluster-31069.42907 shows the relationship between the ancestors, based on the bootstrap value. Bootstrap value of Helianthus annuus and Stevia rebaudiana is 100% as both the sequences are from the Asteraceae family. This study contributes to a deeper understanding of S. rebaudiana MS007 Kaurene synthase through in silico analysis