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The current work focuses on the basic principle of voltage-induced electrowetting and relevant movement of the microfluidic droplets. The prototype of microfluidic devices are fabricated on the Teflon-on-flexible substrate. Three different liquid droplets, namely, the de-ionized (DI) water, sucrose (aq.) solution, and eugenol, have been studied for such purpose within the voltage range of 1–16 V. Electrowetting and subsequent changes in contact angle are extensively investigated with the modification of "work of adhesion" and "work of cohesion" upon application of external voltage. The liquid droplet is positioned on the dielectric-hydrophobic layer which also separates it from the metal electrodes. Eugenol exhibits more susceptibility to electrowetting compared to sucrose solution and DI water. Consequently, sucrose (aq.) solution and DI water show comparatively more droplet displacement. The "work of spreading" for the liquids under test on Teflon surface is obtained. The spreading of eugenol starts at relatively low voltages than sucrose (aq.) solution and DI water. Eugenol follows the Young–Lippmann equation, i.e., linear relation between {cos(θv) − cos(θ0)} with voltage2 (V2); however, sucrose (aq.) solution and DI water deviate from such nature. Here, θ0 and θv are the initial and voltage modified contact angles, respectively. Thus, the current study provides an accurate approach to analyze the interaction of solid–liquid surfaces and its consequent effect upon application of external voltages. [ABSTRACT FROM AUTHOR]

Flavonoids are naturally occurring plant molecules. Fisetin belongs to a class of flavonoids; it is a bioactive polyphenolic flavanol molecule found in fruits and vegetables with potential pharmacological activities. This study was designed to validate a simple method for estimating and evaluating fisetin in the strawberry extract by spectrophotometry. Methodology: Isolation of fisetin from the methanolic extract of Fragaria ananassa with chloroform by liquid-liquid extraction technique. The wet granulation method was formulated for making the tablet by incorporating pure fisetin as a biomarker. Spectrophotometric detection was carried out at an absorption maximum of 362 nm using methanol as solvent. The method was validated by linearity, accuracy, and precision studies. In the validation study, fisetin obeyed Beer-Lambert's law in the concentration range of 1 to 8 μg/mL, and it was found to be linear with a correlation coefficient of 0.99, and the regression equation was found to be Y= 0.10x -0.04. Found the percentage relative standard deviation among all the responses was less than 2%, indicating the method's precision. The percentage recovery of fisetin was found to be in the range of 96.61 to 101.63%. The present study was statistically confirmed. Therefore, the proposed approach can accurately measure the active marker compound in the crude drug (fisetin). The analysis allows the optimization of a precise method for determining the fisetin in the fruit of Fragaria ananassa, which can be used to support the quality assessment of this herbal material. [ABSTRACT FROM AUTHOR]

Throughout history, complementary and alternative therapies have been widely utilised. In recent years, there has been a surge in interest in the usage of herbal treatments all around the world. Various natural chemicals, such as those produced from plants, have been investigated as potential therapies for a myriad of ailments. The essence of this review was to methodically describe everything we know about Bacopa monnieri (L.) Pennell, a mysterious holistic Vedic herb belonging to the Plantaginaceae family, a well-known nootropic and effective memory enhancer, which has recently emerged as one of the most important medical herbs, widely used therapeutically in the Orient and growing in popularity around the world. Literature was gathered from sources such as Scopus, PubMed, Google Scholar, and ScienceDirect, and reviewed using the Prisma quality metacritic paradigm. It is now plainly obvious that current therapies fall short of meeting the demands of the vast majority of individuals with health problems, and traditional medicines are gaining appeal as a result of their reduced toxicity. Bacopa is a traditional herb used in Ayurvedic medicine to treat brain and nerve weariness, as well as in Siddha medicine to treat impaired memory. It's also used to cure brain and nerve exhaustion in Unani medicine. We improved Brahmi micropropagation and secondary metabolite biosynthesis by compiling pharmacobotanical and pharmacognostical descriptions, as well as ethnoarchaeological data and nanotechnology domination. This critique also highlights our contemporary information of pharmacological activity, preclinical and clinical investigations, significant bioactives, reported mechanisms of action, clinical effectiveness, safety, and the potential for herb-drug interactions. At the same time, the current incarnation of research at the plant is reviewed, as well as future research possibilities. Brahmi offers a lot of potential for treating a range of illnesses, including neuro-pharmacological, depression, inflammation, hepatoprotective, antidiabetic, and others. According to the presumptions of this review, further clinical trials and research are needed. While the impact of Brahmi as an anxiolytic and antidepressant has to be explored further, its potential as an anti-epileptic therapy and a treatment for antiepileptic drugs side effects is also being researched. Furthermore, Brahmi's antioxidant ability may explain, at least in part, the antistress, immunomodulatory, cognition-facilitating, anti-inflammatory, and anti-aging benefits documented in experimental animals and clinical circumstances, necessitating further study into its other therapeutic characteristics. [ABSTRACT FROM AUTHOR]

The impedance, capacitance and conductance of deionized water-glucose polar solution is measured by employing impedance spectroscopy and a quasi-oscillatory nature of variation with glucose content in the solution is observed. Such quasi-oscillatory nature is attributed to the randomly distributed water-water, water-glucose and glucose-glucose dipole interactions at the molecular level in the solution. A relevant analytical model is developed on the basis of such random distribution of the molecular dipoles and the experimental data agree well with those obtained from the theoretical model. The electrical parameters are measured in the frequency range of 100Hz to 4MHz for the volume fractions of glucose with respect to water in the range of 0.1 to 0.5. The impedance, capacitance and conductance are obtained to be in the range of 1.03 kΩ – 112 kΩ, 34.9 pF – 1.66 nF, and 8.95 μS – 52.9 μS respectively for the glucose volume fraction range considered.

Favipiravir is an antiviral drug with significant and widespread antiviral action. Favipiravir was crucial in the contest against the COVID-19 pandemic because of how well it treated the SARS-CoV-2 virus. It is well known that contemporary pharmaceutical analysis establishes green, stability-indicating analytical procedures. The current study aimed to develop and assess UV-spectrophotometric (zero order, first order, area under the curve) and RP-HPLC methods for estimating favipiravir in its pharmaceutical dose form, comparing them using ANOVA and an in-vitro dissolution analysis. A green solvents composition of methanol, ethanol, and water (25:35:40 v/v/v) is used for analysis as a mobile phase and diluent. Method A is a simple zero-order spectrophotometric method for determining favipiravir at 236 nm, and the correlation coefficient in the linearity study was found to be 0.9962, LOD, and LOQ are 0.18 and 0.55 μg/mL. Method B is a first-order spectrophotometric method for determining favipiravir at 227 nm, and the correlation coefficient in the linearity study was found to be 0.9964, LOD, and LOQ are 0.64 and 1.96 μg/mL. Method C is an area under the curve spectrophotometric method for determining favipiravir at 230 to 243 nm, and the correlation coefficient in the linearity study was found to be 0.9986, LOD, and LOQ are 0.32 and 0.96 μg/mL. Method D is the RP-HPLC method for the determination of favipiravir at the retention time of 7.216 min, a flow rate of 0.80 mL/min, column temperature of 25°C, at 236 nm, Isocratic mode, and the correlation coefficient in the linearity study was found to be 0.9996, LOD, and LOQ are 0.52 and 1.56 μg/mL. All developed methods demonstrated good repeatability and recovery with %RSD < 2. The proposed established methods were assessed using one-way ANOVA. It was revealed that the Fcalculated value was lower than the Ftabulated value, with no discernible variation in the assay results. Studies on stress degradation show that oxidation and acid degradation mostly impact favipiravir solutions. The Analytical Eco-scale verified that these methods are the greenest and most environmentally friendly, enabling the suggested approach to use an effective green analytical methodology to measure favipiravir extensively. Phosphate buffer (pH 6.4) was the best dissolution medium after analysis of the favipiravir dissolution study in several dissolution media. [ABSTRACT FROM AUTHOR]

Carbamazepine is an anticonvulsant. It works by decreasing nerve impulses that cause seizures and nerve pain, such as trigeminal neuralgia and diabetic neuropathy. It is well known that contemporary pharmaceutical analysis establishes robust, sensitive, economic, stability-indicating analytical procedures. The current study aimed to develop and assess UV-spectrophotometric (zero order, first order, second order, area under the curve) methods for estimating carbamazepine in its pharmaceutical dosage form. Method A is a simple zero-order spectrophotometric method for determining carbamazepine at 285 nm, and the correlation coefficient in the linearity study was found to be 0.9976, LOD, and LOQ are 0.45 and 1.48 µg/ml. Method B is a first-order spectrophotometric method for determining carbamazepine at 269 nm, and the correlation coefficient in the linearity study was found to be 0.9944, LOD, and LOQ are 0.29 and 0.96 µg/ml. Method C is a second-order spectrophotometric method for determining carbamazepine at 254 nm, and the correlation coefficient in the linearity study was found to be 1.00, LOD, and LOQ are 0.62 and 2.04 µg/ml. Method D is an area under the curve spectrophotometric method for determining carbamazepine at 266 to 300 nm, and the correlation coefficient in the linearity study was found to be 0.9975, LOD, and LOQ are 0.14 and 0.46 µg/ml. All developed methods demonstrated good repeatability and recovery with %RSD <2. Studies on stress degradation show that oxidation and acid degradation mostly impact carbamazepine solutions. [ABSTRACT FROM AUTHOR]

Recent years have seen a global rise in the use of herbal medicine. Many naturally occurring bioactive substances, especially those derived from plants, have been studied as potential cures for various diseases. Luffa echinata Roxb., a mysterious medicinal plant from the Cucurbitaceae family, has recently gained recognition as one of the most important medicinal herbs among them. Many phytochemicals found in this plant have been found to have therapeutic potential, including xanthones, alkaloids, phytosterols, flavonoids/isoflavonoids, chalcone, glycosides, terpenoids, saponins, carbohydrates, proteins, reducing sugars, fatty acids, tannins, and phenolic compounds. Other potent phytoconstituents of this plant include saponins, hentriacontane, gypsogenin, sapogenin, cucurbitacin (A, B, C, D, E, K, S, and I), β-sitosterol, echinatol (A and B), oleanolic acid, isoquercetin, quercimeritrin, and sitosterol glycoside. Cucurbitacin, a prominent class of triterpenoids found in L. echinata, has been proven effective in numerous reports. Recent research has shown that cucurbitacins can decapitate or inhibit the proliferation of cancer cells. Luffa echinacea's fruit and leaves have long been used as purgatives and to cure liver disease, hemorrhoids, jaundice, migraines, emesis, and other conditions by Indian and Chinese physicians. Ulcers and sores have also been expelled using them. During the field study, it was found that the tribal community (Tharus) of Khatima utilized extremely bitter, squeezed fruit stuff given to sufferers of dog bites in the morning on an empty stomach, and more than 500 people have been adequately treated thus far. The therapeutic potential and phytoconstituents of Luffa echinata have been clarified by pharmacological and phytochemical studies; further study is required to investigate these phytoconstituents and their structures. [ABSTRACT FROM AUTHOR]

The present work deals with fabrication and characterization of the zinc oxide (ZnO) nanowire based novel two‐electrode capacitive biosensors on flexible Polyethylene terephthalate (PET) substrates for accurate estimation of glucose by analyzing the fundamental dielectric nature of the relevant sample. The morphology and crystalline quality of grown nanowires are analyzed by using field‐emission scanning electron microscope (FESEM) and X‐ray diffractometer (XRD), respectively. Current and capacitance values of the device have been studied for ten different glucose concentrations relevant to the physiological standards. The analytical performance of the devices in terms of enzyme activity, reliability and flexibility has also been evaluated. [ABSTRACT FROM AUTHOR]

Abstract Background Recent studies suggest that glaucoma is a neurodegenerative disease in which secondary degenerative losses occur after primary insult by raised Intraocular pressure (IOP) or by other associated factors. It has been reported that polymorphisms in the IL1A and IL1B genes are associated with Primary Open Angle Glaucoma (POAG). The purpose of our study was to investigate the role of these polymorphisms in eastern Indian POAG patients. Methods The study involved 315 unrelated POAG patients, consisting of 116 High Tension Glaucoma (HTG) patients with intra ocular pressure (IOP) > 21 mmHg and 199 non-HTG patients (presenting IOP < 20 mmHg), and 301 healthy controls from eastern India. Genotypes were determined by polymerase chain reaction and restriction digestion for three single nucleotide polymorphisms (SNPs): IL1A (-889C/T; rs1800587), IL1B (-511C/T; rs16944) and IL1B (3953C/T; rs1143634). Haplotype frequency was determined by Haploview 4.1 software. The association of individual SNPs and major haplotypes was evaluated using chi-square statistics. The p-value was corrected for multiple tests by Bonferroni method. Results No significant difference was observed in the allele and genotype frequencies for IL1A and IL1B SNPs between total pool of POAG patients and controls. However, on segregating the patient pool to HTG and non-HTG groups, weak association was observed for IL1A polymorphism (-889C/T) where -889C allele was found to portray risk (OR = 1.380; 95% CI = 1.041-1.830; p = 0.025) for non-HTG patients. Similarly, 3953T allele of IL1B polymorphism (+3953C/T) was observed to confer risk to HTG group (OR = 1.561; 95% CI = 1.022-2.385; p = 0.039). On haplotype analysis it was observed that TTC was significantly underrepresented in non-HTG patients (OR = 0.538; 95% CI = 0.356- 0.815; p = 0.003) while TCT haplotype was overrepresented in HTG patients (OR = 1.784; 95% CI = 1.084- 2.937; p = 0.022) compared to control pool. However, after correction for multiple tests by Bonferroni method, an association of only TTC haplotype with non-HTG cases sustained (pcorrected = 0.015) and expected to confer protection. Conclusion The study suggests that the genomic region containing the IL1 gene cluster influences the POAG pathogenesis mostly in non-HTG patients in eastern India. A similar study in additional and larger cohorts of patients in other population groups is necessary to further substantiate the observation.

Dielectric properties of a living biological membrane play crucial role indicating the status of the cell in pathogenic or healthy condition. A distinct variation in membrane capacitance and impedance was observed for peripheral blood mononuclear cell (PBMC) suspensions for diabetic and diabetic-dyslipidemic subjects compared to healthy control. Low frequency region were explicitly considered in electrical analysis to address complex membrane dielectric factors that alter the system capacitance of a PBMC suspension. Such variation was marked in size, morphology and membrane function of PBMCs for control and diseased cases. Scanning electron microscopy (SEM) and atomic force microscopy (AFM) studies reveal significant alteration in surface morphology of PBMCs in diseased condition. Side scatter of flow cytometry reveals complexity of PBMCs in diseased condition. Changes in size between groups were not found by SEM and forward scatter. Functional alteration in PBMCs was manifested by significant changes in cell membrane properties like Na + , K + ATPase and Ca 2+ , Mg 2+ ATPase activity, reduced plasma membrane fluidity and changes in intracellular Ca 2+ content, which bear significant correlation in diabetic and diabetic dyslipidemic subjects. Therefore, dielectric parameters of PBMCs in diabetic-dyslipidemic challenges may led to interesting correlation opening the possibility of identifying crucial signature biomarkers. [ABSTRACT FROM AUTHOR]

Glaucoma, the leading cause of irreversible blindness, appears in various forms. Mutations in CYP1B1 result in primary congenital glaucoma (PCG) by an autosomal recessive mode of inheritance while it acts as a modifier locus for primary open angle glaucoma (POAG). We investigated the molecular basis of the variable phenotypes resulting from the defects in CYP1B1 by using subclones of 23 CYP1B1 mutants reported in glaucoma patients, in a cell based system by measuring the dual activity of the enzyme to metabolize both retinol and 17β-estradiol. Most variants linked to POAG showed low steroid metabolism while null or very high retinol metabolism was observed in variants identified in PCG. We examined the translational turnover rates of mutant proteins after the addition of cycloheximide and observed that the levels of enzyme activity mostly corroborated the translational turnover rate. We performed extensive normal mode analysis and molecular-dynamics-simulations-based structural analyses and observed significant variation of fluctuation in certain segmental parts of the mutant proteins, especially at the B-C and F-G loops, which were previously shown to affect the dynamic behavior and ligand entry/exit properties of the cytochrome P450 family of proteins. Our molecular study corroborates the structural analysis, and suggest that the pathologic state of the carrier of CYP1B1 mutations is determined by the allelic state of the gene. To our knowledge, this is the first attempt to dissect biological activities of CYP1B1 for correlation with congenital and adult onset glaucomas. [ABSTRACT FROM AUTHOR]

INK4 locus at chromosome 9p21 has been reported to be associated with primary open angle glaucoma (POAG) and its subtypes along with the associated optic disc parameters across the populations of European, Japanese and African ancestries. The locus encodes three tumor suppressor genes namely CDKN2A, ARF, CDKN2B and a long non-coding RNA CDKN2B-AS1 (also known as ANRIL). Here, we report association study of 34 SNPs from INK4 locus withPOAGin a population of Indo-European ancestry from the eastern part of India (350 patients and 354 controls). With 81% power to detect genetic association we observed only nominal association of rs1011970 (uncorrected p=0.048) with POAG and rs10120688 (uncorrected p=0.048) in patients without a high intra-ocular pressure (IOP<21 mm of Hg) compared to controls. This study, in contrast to the previous reports, suggests lack of significant genetic association of INK4 locus with POAG in East Indian population which needs to be replicated in larger studies in diverse world populations. [ABSTRACT FROM AUTHOR]

Glaucoma represents a heterogeneous group of optic neuropathies with a complex genetic basis. It is the second-largest cause of blindness in the world that reduces vision without warning and often without symptoms. Among 3 major subtypes of glaucoma, primary open-angle glaucoma (POAG) is the most common form. The focus of this study is to understand the molecular basis of the disease among Indian patients with respect to two genes, Cochlin (COCH) and tumor necrosis factor alpha (TNFA), selected based on reports of possible association with POAG. The genes were screened in patients and controls by PCR and direct sequencing. Although two novel changes (-450 C/T and -79 G/G) were identified in the 5'upstream region of COCH, no causal variant could be identified in either gene. -450 C/T was detected in 3 patients and 2 controls and -79 G/C in a single patient. Further, we did not observe significant association with the promoter SNPs of TNFA that had been previously reported to be associated with POAG pathogenesis. Thus, our study suggests lack of association of both COCH and TNFA with POAG pathogenesis. [ABSTRACT FROM AUTHOR]

Background: Recent studies suggest that glaucoma is a neurodegenerative disease in which secondary degenerative losses occur after primary insult by raised Intraocular pressure (IOP) or by other associated factors. It has been reported that polymorphisms in the IL1A and IL1B genes are associated with Primary Open Angle Glaucoma (POAG). The purpose of our study was to investigate the role of these polymorphisms in eastern Indian POAG patients. Methods: The study involved 315 unrelated POAG patients, consisting of 116 High Tension Glaucoma (HTG) patients with intra ocular pressure (IOP) > 21 mmHg and 199 non-HTG patients (presenting IOP < 20 mmHg), and 301 healthy controls from eastern India. Genotypes were determined by polymerase chain reaction and restriction digestion for three single nucleotide polymorphisms (SNPs): IL1A (-889C/T; rs1800587), IL1B (-511C/T; rs16944) and IL1B (3953C/T; rs1143634). Haplotype frequency was determined by Haploview 4.1 software. The association of individual SNPs and major haplotypes was evaluated using chi-square statistics. The p-value was corrected for multiple tests by Bonferroni method. Results: No significant difference was observed in the allele and genotype frequencies for IL1A and IL1B SNPs between total pool of POAG patients and controls. However, on segregating the patient pool to HTG and non-HTG groups, weak association was observed for IL1A polymorphism (-889C/T) where -889C allele was found to portray risk (OR = 1.380; 95% CI = 1.041-1.830; p = 0.025) for non-HTG patients. Similarly, 3953T allele of IL1B polymorphism (+3953C/T) was observed to confer risk to HTG group (OR = 1.561; 95% CI = 1.022-2.385; p = 0.039). On haplotype analysis it was observed that TTC was significantly underrepresented in non-HTG patients (OR = 0.538; 95% CI = 0.356- 0.815; p = 0.003) while TCT haplotype was overrepresented in HTG patients (OR = 1.784; 95% CI = 1.084- 2.937; p = 0.022) compared to control pool. However, after correction for multiple tests by Bonferroni method, an association of only TTC haplotype with non-HTG cases sustained (pcorrected = 0.015) and expected to confer protection. Conclusion: The study suggests that the genomic region containing the IL1 gene cluster influences the POAG pathogenesis mostly in non-HTG patients in eastern India. A similar study in additional and larger cohorts of patients in other population groups is necessary to further substantiate the observation. [ABSTRACT FROM AUTHOR]

The current article demonstrates a novel diagrammatic approach for the detection and quantification of polar and non-polar/ionic adulterants in milk by employing electrical impedance spectroscopy (EIS). For such study, some commonly used milk adulterants including melamine, starch, urea, allantoin, cyanuric acid, benzoic acid, ammonium sulphate and sodium bicarbonate are incorporated in a controlled manner in the pure milk sample. The presence of such adulterants in milk is confirmed by Fourier transform mid-infrared (FT-MIR) spectroscopy prior to impedimetric measurements. A Pt/Teflon/SiO2/Si biosensor device is fabricated for EIS measurement where the combination of SiO2 and Teflon layer thicknesses are optimized to obtain an appropriate hydrophobicity/dielectricity for the liquid milk samples. The EIS study shows an opposite trend in the variation of electrical impedance, capacitance and conductance for the polar samples in comparison to non-polar/ionic adulterants, upon their controlled addition from 0.5 to 9 (mg/g). Such results are utilized for detection and quantification of the milk-adulterants by developing a diagrammatic approach based on impedimetric phase angle-modulus mapping. Such diagrammatic impedance spectroscopy provides a generic scheme for a rapid, cost-effective and point-of-care detection and quantification of adulterants in milk which can be further extended to other bio-consumables. • EIS detection scheme to identify polar and non-polar/ionic adulterants in milk. • Pt/teflon/SiO2/Si biosensor device fabricated for EIS measurement of liquid sample. • The device can detect milk adulterant concentration ranging from 0.05 to 0.9% (w/w). • Impedimetric phase angle-modulus diagram can map various adulterants in milk. [ABSTRACT FROM AUTHOR]

Purpose: Large copy number variations (CNV) can contribute to increased burden for neurodegenerative diseases. In this study, we analyzed the genome-wide burden of large CNVs > 100 kb in primary open angle glaucoma (POAG), a neurodegenerative disease of the eye that is the largest cause of irreversible blindness., Methods: Genome-wide analysis of CNVs > 100 kb were analyzed in a total of 1720 individuals, including an Indian cohort (347 POAG cases and 345 controls) and a Caucasian cohort (624 cases and 404 controls). All the CNV data were obtained from experiments performed on Illumina 660W-Quad (infinium) arrays., Results: We observed that for both the populations CNVs > 1 Mb was significantly enriched for gene-rich regions unique to the POAG cases (P < 10(-11)). In the Indian cohort CNVs > 1 Mb (39 calls) in patients influenced 125 genes while in controls 31 such CNVs influenced only 5 genes with no overlap. In both cohorts we observed 1.9-fold gene enrichment in patients for deletions compared to duplications, while such a bias was not observed in controls (0.3-fold). Overall duplications > 1 Mb were more than deletions (Del/Dup = 0.82) confirming that the enrichment of gene-rich deletions in patients was associated with the disease. Of the 39 CNVs > 1 Mb from Indian patients, 28 (72%) also were implicated in other neurodegenerative disorders, like autism, schizophrenia, sensorineural hearing loss, and so forth. We found one large duplication encompassing CNTN4 gene in Indian and Caucasian POAG patients that was absent in the controls., Conclusions: To our knowledge, our study is the first report on large CNV bias for gene-rich regions in glaucomatous neurodegeneration, implicating its impact across populations of contrasting ethnicities. We identified CNTN4 as a novel candidate gene for POAG., (Copyright 2014 The Association for Research in Vision and Ophthalmology, Inc.)

Purpose: Glaucoma is a heterogeneous group of optic neuropathies with a complex genetic basis. To date, only the following four genes have been identified: viz. myocilin (MYOC), optineurin (OPTN), WD repeat domain 36 (WDR36), and neurotrophin 4 (NTF4). However, there are conflicting reports regarding the involvement of WDR36 in the pathogenesis of primary open-angle glaucoma (POAG). In the Asian population, mutations in WDR36 appear to play a minor role in POAG pathogenesis but polymorphic variants have been found to be associated with POAG, especially in patients with high tension glaucoma (HTG). The purpose of this study is to determine the role of WDR36 in East Indian POAG patients. To date, no other studies have yet examined this role., Methods: Ten single nucleotide polymorphisms (SNPs; rs1971050, rs1993465, rs13153937, rs10038177, rs11241095, rs10043631, rs10038058, rs10491424, rs17553936, and rs13186912) spanning almost the entire WDR36 gene were selected and their association with eastern Indian POAG patients was evaluated. Our study pool consisted of 323 POAG patients. Of these 116 were patients who had HTG with intraocular perssure (IOP) >21mmHg and 207 were found to be non-HTG patients (presenting IOP<21mmHg). The study also included 303 participants as controls. The polymorphisms were genotyped in both the patients and the controls using the PCR-RFLP method. Moreover, the SNP that showed significant association was validated by DNA sequencing. The haplotypes were obtained using Haploview 4.1 software. The allele and haplotype frequencies were compared between the patient group and the control group using Pearson's χ(2) test., Results: First, we genotyped the selected SNPs in the 323 POAG patients and 119 of the participants in the control group, in which only rs10038177 (c.710+30C>T) was found to be strongly associated with the HTG cases (OR=2.186; 95% CI=1.458-3.277; p=1.4×10(-4)). To increase the significance of the study, the SNP was genotyped in an additional 184 of the participants in the control group and it was observed that the SNP retained the association (OR=1.216; 95% CI=1.064-2.306; p=0.002). However, no haplotype was found to have any sustainable association with POAG. Based on the LD pattern and location of rs10038177, exon 5 of WDR36 was sequenced but no suspected disease-causing variant was detected., Conclusions: Our study suggests a possible association between WDR36 SNP in a cohort of eastern Indian POAG patients who also have high intraocular pressure (IOP). This study needs to be further validated in a larger patient cohort.

Background: Recent studies suggest that glaucoma is a neurodegenerative disease in which secondary degenerative losses occur after primary insult by raised Intraocular pressure (IOP) or by other associated factors. It has been reported that polymorphisms in the IL1A and IL1B genes are associated with Primary Open Angle Glaucoma (POAG). The purpose of our study was to investigate the role of these polymorphisms in eastern Indian POAG patients., Methods: The study involved 315 unrelated POAG patients, consisting of 116 High Tension Glaucoma (HTG) patients with intra ocular pressure (IOP) > 21 mmHg and 199 non-HTG patients (presenting IOP < 20 mmHg), and 301 healthy controls from eastern India. Genotypes were determined by polymerase chain reaction and restriction digestion for three single nucleotide polymorphisms (SNPs): IL1A (-889C/T; rs1800587), IL1B (-511C/T; rs16944) and IL1B (3953C/T; rs1143634). Haplotype frequency was determined by Haploview 4.1 software. The association of individual SNPs and major haplotypes was evaluated using chi-square statistics. The p-value was corrected for multiple tests by Bonferroni method., Results: No significant difference was observed in the allele and genotype frequencies for IL1A and IL1B SNPs between total pool of POAG patients and controls. However, on segregating the patient pool to HTG and non-HTG groups, weak association was observed for IL1A polymorphism (-889C/T) where -889C allele was found to portray risk (OR = 1.380; 95% CI = 1.041-1.830; p = 0.025) for non-HTG patients. Similarly, 3953T allele of IL1B polymorphism (+3953C/T) was observed to confer risk to HTG group (OR = 1.561; 95% CI = 1.022-2.385; p = 0.039). On haplotype analysis it was observed that TTC was significantly underrepresented in non-HTG patients (OR = 0.538; 95% CI = 0.356- 0.815; p = 0.003) while TCT haplotype was overrepresented in HTG patients (OR = 1.784; 95% CI = 1.084- 2.937; p = 0.022) compared to control pool. However, after correction for multiple tests by Bonferroni method, an association of only TTC haplotype with non-HTG cases sustained (pcorrected = 0.015) and expected to confer protection., Conclusion: The study suggests that the genomic region containing the IL1 gene cluster influences the POAG pathogenesis mostly in non-HTG patients in eastern India. A similar study in additional and larger cohorts of patients in other population groups is necessary to further substantiate the observation.