Association of vitamin D receptor gene polymorphism (TaqI and Apa1) with bone mineral density in North Indian postmenopausal women.

Vitamin D receptor (VDR) gene has an important role as a candidate gene for the regulation of bone mass in osteoporosis. However, its association with bone mineral density (BMD) is controversial and has not been established in different ethnic populations. To enhance the understanding of VDR gene polymorphism in the context of BMD, we investigated the plausible genetic association of TaqI and ApaI polymorphism with BMD in North Indian postmenopausal women with osteoporosis.254 osteoporotic women (Age 55.82 ±â€¯6.91) and 254 postmenopausal non osteoporotic women (Age 54.76 ±â€¯6.26) were included in the study. VDR TaqI and ApaI polymorphism were determined by PCR (polymerase chain reaction) and RFLP (restriction fragment length polymorphism). BMD was assessed by dual energy X-ray absorptiometry (DXA) at the lumbar spine (L1-L4), hip, forearm and femoral neck. The average BMD with TT genotype was significantly lower at lumbar spine, hip and forearm. The Frequency of TT genotype and t allele was significantly high in osteoporotic women when compared with controls. The average BMD with Aa genotype was higher in ApaI. Furthermore, comparison of frequency distribution of genotype and allele for VDR ApaI between osteoporotic patients and controls did not show any significant difference. Our findings revealed that TaqI gene TT genotype was associated with low BMD in North Indian osteoporotic women. Moreover, TT genotype and t allele associated significantly with osteoporosis in postmenopausal women. Therefore, VDR TaqI gene is an important determinant of risk factor for osteoporosis.

Essential hypertension: A filtered serum based metabolomics study.

Despite the easy and reliable methods of blood pressure measurement, the screening of essential hypertension (EH) is usually ignored due to delayed onset of symptoms. A probe into the biochemical changes in hypertension would serve as a welcome asset to provide insight into the mechanistic aspects of EH. Filtered serum samples from 64 EH patients and 59 healthy controls (HC) were analysed using 800 MHz nuclear magnetic resonance (NMR) spectroscopy. Application of principal component analysis (PCA) and orthogonal partial least-squares discriminant analysis (OPLS-DA) following receiver operating characteristic (ROC) curve of NMR data reveals significantly perturbed metabolites: alanine, arginine, methionine, pyruvate, adenine, and uracil. This set of metabolites correctly classified 99% of cases from HC and also showed excellent correlation in both isolated elevated diastolic blood pressure (DBP) cases and combined elevated systolic-diastolic blood pressure cases. Proton NMR metabolomics of EH may prove helpful in defining associated biomarkers and serve as an alternate diagnostic tool with judicious clinical assessment.

1H NMR-derived metabolomics of filtered serum of myocardial ischemia in unstable angina patients.

BACKGROUND: Despite continuing research for development of accurate biomarkers of myocardial ischemia in unstable angina, lack of biochemical biomarkers is alarming. We sought to develop accurate biomarkers using high throughput proton nuclear magnetic resonance ((1)H NMR) spectroscopy and filtered serum (lacking proteins and lipoproteins) based metabolomics for detecting myocardial ischemia in unstable angina patients with utmost precision. METHODS: Study includes 127 filtered serum samples from myocardial ischemia in unstable angina patients (UA; n=65) and healthy controls (HC; n=62). High resolution NMR spectra were obtained to highlight metabolic perturbations of small metabolites. A supervised orthogonal partial least square discriminant analysis was applied to generate a prediction model. Receiver operating characteristic (ROC) curve analysis was performed to reveal the clinical utility of signature biomarkers. RESULTS: Five biomarkers--valine, alanine, glutamine, inosine and adenine--could differentiate 95% of UA from HC with 96% sensitivity and 95% specificity. CONCLUSIONS: (1)H NMR-based filtered serum metabolic profiling appears to be an assuring, least invasive and faster way to screen and identify myocardial ischemia in unstable angina patients.