VDR FOK-I POLYMORPHISM IN THE POPULATION OF KERALA, INDIA.

Corresponding Author:
Dr. Joe Joseph,
Department of Medicine,
Government Medical College,
Ernakulam, Kerala, India.
E-mail: joemundackal@yahoo.co.in

ABSTRACT

BACKGROUND

Vitamin D receptor (VDR), a member of the steroid hormone receptor family is involved in a variety of biological processes such as bone metabolism, modulation of immune response, regulation of cell proliferation and differentiation. Polymorphisms in VDR gene has been linked to a number of diseases like osteoarthritis, cancer, diabetes, etc. Since ethnic variations has been reported in the allele frequency of VDR polymorphisms, population specific data has to be generated before conducting a valid genetic association study.

The aim of this study was to identify the distribution of VDR Fok-I polymorphism in the healthy individuals of Kerala, South India.

MATERIALS AND METHODS

This study was conducted on 152 unrelated individuals of Kerala. Detection of VDR Fok-I polymorphism was done by PCR-RFLP. The allele and genotype frequencies were calculated from the genotype data. Genotype frequencies of different populations were compared with that of ours using Chi square test.

RESULTS

The genotype distribution of VDR Fok-I in this population followed Hardy-Weinberg equilibrium. Significant variations were observed on comparing our genotype distribution with that of data from previous studies in different populations confirming ethnic variation in genotype frequency. Variations between different population groups within India were also observed.

CONCLUSION

This study confirms ethnic variations in the VDR Fok-I genotype distribution indicating the need for generating population specific data for different ethnic groups. Establishing such specific databases is essential for valid genetic association studies.

Keywords

VDR, Polymorphism, Kerala Population, PCR-RFLP.