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Full-Text Articles in Genetic Phenomena

Lack Of Association Between Gly82ser, 1704g/T And 2184a/G Of Rage Gene Polymorphisms And Retinopathy Susceptibility In Malaysian Diabetic Patients, Rozaida @ Poh Yuen Ying Jan 2012

Lack Of Association Between Gly82ser, 1704g/T And 2184a/G Of Rage Gene Polymorphisms And Retinopathy Susceptibility In Malaysian Diabetic Patients, Rozaida @ Poh Yuen Ying

Rozaida @ Poh Yuen Ying

Diabetic retinopathy is the most common diabetic eye disease, occurring in about 60% of type 2 diabetic patients. Other than known clinical risk factors, the influence of genes has been suggested as part of the development of diabetic retinopathy. We investigated the association of Gly82Ser, 1704G/T and 2184A/G polymorphisms in the RAGE gene with retinopathy in type 2 diabetic patients in Malaysia. Ninety-eight unrelated retinopathy patients and 185 unrelated healthy controls from all over Malaysia were recruited in this study. The allele and genotype frequencies of the three gene polymorphisms were investigated using PCR-RFLP. The allele frequency of the three …


Igf2bp2 Alternative Variants Associated With Glutamic Acid Decarboxylase Antibodies Negative Diabetes In Malaysian Subjects, Rozaida @ Poh Yuen Ying Jan 2012

Igf2bp2 Alternative Variants Associated With Glutamic Acid Decarboxylase Antibodies Negative Diabetes In Malaysian Subjects, Rozaida @ Poh Yuen Ying

Rozaida @ Poh Yuen Ying

Background: The association of Insulin-like growth factor 2 mRNA-binding protein 2 (IGF2BP2) common variants (rs4402960 and rs1470579) with type 2 diabetes (T2D) has been performed in different populations. The aim of this study was to evaluate the association of alternative variants of IGF2BP2; rs6777038, rs16860234 and rs7651090 with glutamic acid decarboxylase antibodies (GADA) negative diabetes in Malaysian Subjects. Methods/Principal Findings: IGF2BP2; rs6777038, rs16860234 and rs7651090 single nucleotide polymorphisms (SNPs) were genotyped in 1107 GADA negative diabetic patients and 620 control subjects of Asian from Malaysia. The additive genetic model adjusted for age, race, gender and BMI showed that alternative variants; …


Paraoxonase 1 Status In Keratoconus: A Preliminary Study Of Activity And Polymorphism, Rozaida @ Poh Yuen Ying Jan 2012

Paraoxonase 1 Status In Keratoconus: A Preliminary Study Of Activity And Polymorphism, Rozaida @ Poh Yuen Ying

Rozaida @ Poh Yuen Ying

OBJECTIVE: To determine the activity of paraoxonase 1 (PON1) in keratoconus in a Malaysian population in comparison with non-keratoconic subjects. METHODS: Clinical eye examinations were performed on patients with keratoconus and non-keratoconic subjects after questionnaires were completed. Blood samples were collected and subjected to spectrophotometry analysis of paraoxonase and diazoxonase activities for the determination of the status of PON1 of every individual. RESULTS: Of the 11 keratoconic patients and 55 non-keratoconic control samples collected, eight patients of Indian ethnicity were keratoconic (73%), whereas 33 non-Indians were non-keratoconic (60%; p = 0.047). Paraoxonase activity was lower in Indians compared to the …


Paraoxonase 1 Activity As A Predictor Of Cardiovascular Disease In Type 2 Diabetes, Rozaida @ Poh Yuen Ying Jan 2010

Paraoxonase 1 Activity As A Predictor Of Cardiovascular Disease In Type 2 Diabetes, Rozaida @ Poh Yuen Ying

Rozaida @ Poh Yuen Ying

The role of paraoxonase 1 in cardiovascular disease complications in type 2 diabetes mellitus is not fully understood. We studied paraoxonase activity towards paraoxon in 188 non-diabetic and 140 diabetic subjects using general linear models and univariate analysis. Adjusting for age revealed a reduction in activity towards paraoxon was associated with a significant increase in risk (p=0.023) for cardiovascular disease complications in diabetic patients. Multivariate analysis of two plasma measures of paraoxonase activity using paraoxon and diazoxon also showed reduced paraoxonase activity towards paraoxon was associated with a significant increase in risk (p=0.045) for cardiovascular disease complications in diabetic patients. …


Evaluation Of Polymorphism At Codon 192 Of Paraoxonase 1 On Its Kinetic Behavior, Rozaida @ Poh Yuen Ying Jan 2009

Evaluation Of Polymorphism At Codon 192 Of Paraoxonase 1 On Its Kinetic Behavior, Rozaida @ Poh Yuen Ying

Rozaida @ Poh Yuen Ying

Human paraoxonase 1 (PON1), a High-Density Lipoprotein (HDL)-associated esterase has been implicated in slowing down the development of atherosclerosis. In the present study, kinetic and inhibition studies on PON1 were conducted to assess three parameters: the Michaelis constant (KM) and maximal rate of metabolisme (Vmax) of paraoxonase and inhibition constant (Ki) of phenylacetate. Human paraoxonase 1 (PON1) activity was measured spectrophotometrically at 405 nm, using plasma samples in basal (without added NaCl) and salt-stimulated assays with 1 M NaCl. Inhibition studies were performed using phenylacetate as an inhibitor of PON1 in basal assays, pH 8.0. Estimates of KM and Vmax …


Discordance In The Paraoxonase (Pon1)-192qr Polymorphism, Rozaida @ Poh Yuen Ying Dec 2007

Discordance In The Paraoxonase (Pon1)-192qr Polymorphism, Rozaida @ Poh Yuen Ying

Rozaida @ Poh Yuen Ying

Paraoxonase (PON1) has been implicated to have a cardioprotective role, due to its physical attachment with high-density lipoprotein. PON1192QR is a variation of the PON1 gene, the R allele being a risk factor for cardiovascular disease. Kinetic studies resulting in a plot of paraoxon versus diazoxon hydrolysis rates may be used to accurately predict PON1192 geno-type. In this study, paraoxonase and diazoxonase activities in plasma were measured spec-trophotometrically using plasma while PCR-based PON1192 genotyping was performed us-ing polymerase chain reaction followed by restriction digestion. The two-substrate assay-derived genotypes were cross-referred with those determined by PCR-based genotyping. When results did not …


Ethnic Variations In Paraoxonase1 Polymorphism In The Malaysian Population, Rozaida @ Poh Yuen Ying Jan 2007

Ethnic Variations In Paraoxonase1 Polymorphism In The Malaysian Population, Rozaida @ Poh Yuen Ying

Rozaida @ Poh Yuen Ying

The role of high-density lipoprotein associated paraoxonase (PON) 1 in protection against oxidative stress associated with the development of complications in diabetes mellitus has been reported. Variations in the PON1 gene, 55LM and 192QR have been described in different populations. These variations are known to be risk factors for heart disease, especially the L and R alleles. We have investigated the prevalence of both polymorphisms in the Malaysian population comprising the three major ethnic groups: Malay, Chinese and Indian, using polymerase chain reaction followed by restriction endonuclease digestion. The results show the pooled frequencies of L and R alleles were …