11 research outputs found
Frequency of fokI and taqI polymorphism of vitamin D receptor gene in Indian population and its association with 25-hydroxyvitamin D levels
Background: The VDR protein is at the centre of the vitamin D
endocrine system, a complex physiological system with substantial
feedback regulatory mechanisms involved in maintaining serum calcium
and 1, 25 dihydroxy vitamin D3. Variations in VDR gene are shown to
have implications in several diseases and have also been implicated as
an important genetic factor affecting bone mass. Aim: To determine the
frequency of Fok I and Taq I variants in healthy Indian individuals and
its association with 25-OH-Vitamin D levels. Settings and Design:
Blood samples were collected from 143 unrelated normal individuals
(Male-84 and Female-59) and their genotypes determined. Materials and
Methods: After amplification by polymerase chain reaction, each
polymorphism was genotyped by restriction fragment length polymorphism.
For 100 normal healthy individuals 25-hydroxyvitamin D estimation was
done using DiaSorin kit method. Statistical Analysis: Graph pad
software was used to calculate the P values from the Chi-square.
Results: Out of 143 samples analyzed for FokI and TaqI polymorphisms
the following genotypic frequency was obtained FF 59%, Ff 36%, ff 5%
and TT 49%, Tt 43%, tt 8% respectively. Conclusions: Results indicate
that the distribution of the polymorphic loci Fok I and Taq I vary
considerably not only in different populations, but also within India.
Furthermore, when the genotypes were analyzed with respect to
25-OH-Vitamin D levels, a significant association was seen for the Taq
1 SNP but not with the Fok I
Promoter variants in interleukin-6 and tumor necrosis factor alpha and risk of coronary artery disease in a population from Western India
Introduction: A central component of the atherosclerotic process is inflammation. Single nucleotide polymorphisms (SNPs) present in the promoter region of various cytokines can lead to altered levels of the transcript and a state of low-grade inflammation exacerbating the risk of coronary artery disease (CAD). The present work tries to understand the role of permissive promoter variants in the interleukin-6 gene (IL-6-174G/C) and the tumor necrosis factor alpha (TNFα-308G/A) in the causation of CAD and also dyslipidemia.
Materials and Methods: Genotyping was conducted on 100 cases of CAD and 150 controls by the allele termination assay SNaPshot. Biochemical parameters were determined by routine enzymatic endpoint methods. The results were analyzed by appropriate statistical methods.
Results: No differences in the minor allele frequency IL-6-174G/C SNP were seen between cases and controls (0.13 vs. 0.12). The differences in the allele frequency of TNFα-308A between cases (6%) and controls (2%) have led to an odds ratio, 3.370; 95% confidence interval, 1.039-11.543; P=0.033 in the univariate analysis. In the final logistic regression analysis, however none of the variants were associated with an increased risk of CAD.
Conclusions: In summary, no association of the permissive promoter variants in the IL-6 gene and the TNFα gene were seen with an increased CAD risk. These and other studies highlight the importance of doing population specific studies
Frequency and association of disabled homolog 2-interacting protein (DAB2IP) variant rs7025486 G>A with coronary artery disease risk in Indian population
Genome wide association study has identified rs7025486 G>A polymorphism within DAB2IP (Disabled homolog 2-interacting protein) gene with increased risk of coronary heart disease (CAD). In this study we have determined the frequency and association of rs7025486 with CAD in Indians. The study was performed on 214 patients with CAD and 125 controls. The ‘AA’ genotype was associated with an increased risk in the CAD age group 50 yrs (OR 3.149; P 0.034) and controls >50 yrs (OR 3.430; P 0.080). The risk allele (A) was significantly associated with premature CAD. Keywords: Coronary artery disease, Single nucleotide polymorphism, Association study, Indians, Genotypin
Reference ranges for lymphocyte subsets in adults from western India: Influence of sex, age and method of enumeration
Background: The enumeration of absolute CD4 counts is of primary
importance, since therapeutic protocols for HIV1 patients are based on
these. Aims: To establish reference ranges for the CD4 and CD8
T-lymphocytes in the Indian population. Settings and Design:
Enumeration of absolute numbers and percentages of lymphocyte subsets
was performed in 252 healthy adult Indians. Methods and Materials: The
assays for SPT were carried out using the Beckman EPICS XL-MCL flow
cytometer and the cytostat tetraCHROME reagent containing
CD45/CD8/CD4/CD3 monoclonal antibodies. For comparison with DPT the
absolute lymphocyte count was obtained using the Coulter STK-S fully
automated hematology analyzer. Statistical Analysis: Regression
analysis and Students t test were used for data analysis. Results:
Median values were as follows; absolute CD3 counts 1446 cells/mm3
(total), 1361 cells/mm3 (males) and 1511 cells/mm3 (females); absolute
CD4 counts are 771 cells/mm3 (total), 705 cells/mm3 (males) and 839
cells/mm3 (females); absolute CD8 counts are 555 cells/mm3 (total), 552
cells/mm3 (males) and 561 cells/mm3 (females). The median CD4/CD8 ratio
for the total samples was 1.34, for males 1.22 and for females 1.49.
Conclusions: In this study we have established reference ranges for
normal Indian adults using the fully automated Single Platform
Technology. The lymphocyte subsets values of our population are closer
to those of the population from Botswana and China rather than the
Western population. The absolute CD3 and CD4 counts and the CD4:CD8
ratio are higher in females than in males. Consistently higher values
are obtained by the DPT as compared to the SPT