Molecular analysis of genetic variation in angiotensin I-converting enzyme identifies no association with sporting ability: First report from Indian population.

INTRODUCTION: A polymorphism in the angiotensin-converting enzyme (ACE) gene was the first performance enhancing polymorphisms (PEPs) to be identified and correlated with athletic abilities. This polymorphism (rs. 5186) is the absence (deletion; D allele), rather than the presence (insertion, I allele) of 287bp Alu repeat element in intron 16. However, the association of ACE I/D polymorphism in sports abilities have been contradicted and debated. No study has evaluated the ACE gene polymorphism in Indian athletes so far. Hence, the genotype distribution and allelic frequency of ACE gene in selected Indian athletic and non-athletic population was studied. MATERIALS AND METHODS: A total of 147 athletes and 131 controls were genotyped for the ACE gene polymorphism using PCR. RESULTS: No significant association was observed between the allelic frequencies of ACE gene in controls and athletes on a whole, as well as after sub-categorizing the athletes based on the type of sport they played (P > 0.1). However, a higher representation of I allele was observed in the athletes. CONCLUSION: ACE genotyping studies need to focus on truly elite athletes of a single sporting discipline, to be able to find an association. The ACE I/D polymorphism may not be considered a marker for human performance, but can be further studied in combination with other potent performance enhancing polymorphisms.

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.

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.