A PILOT STUDY ON THE PREVALENCE AND ASSOCIATION OF GPRC6A SINGLE NUCLEOTIDE POLYMORPHISMS IN SOUTH INDIAN PATIENTS WITH METABOLIC SYNDROME, METABOLIC SYNDROME AND INFERTILITY

Balaji Ramanathan, Kumaravel Velayutham#, Sridhar Kesavan, Karthikeyan Muthusamy, Lakshmanan Loganathan, Rohini Gomathinayagam*

ABSTRACT

Aims: The G protein coupled receptor, class C, GPRC6A is identified to primarily modulate metabolic functions and reproductive health in males. The single nucleotide polymorphisms (SNPs) of GPRC6A rs2274911 and rs143913245 (F464Y) are reported to be associated with metabolic syndrome, infertility. However, there exists a lacuna in the knowledge regarding the incidence, prevalence of these SNPs in the Indian/south Indian population and hence the present study focuses to determine their influence in the metabolic syndrome (MTS), MTS and infertility patients. Materials and Methods: Genomic DNA from peripheral blood samples of healthy female/male controls, diabetic/obese male controls and patients with MTS, MTS and infertility were isolated and GPRC6A gene regions corresponding to exon 2, exon 4 were PCR amplified and sequenced. Results: Genotyping results revealed that rs2274911, rs6917467 was incident in the assessed population and that the percentage of rs2274911 wild type carriers (GG) significantly differed between the non-diabetic and diabetic groups (GG, p<0.01). Further, on comparison with the non-diabetic patients with MTS, the diabetic patients with MTS, diabetic patients with MTS and infertility (p<0.05; p<0.001 respectively) tended to present a significantly higher percentage of the rs2274911 heterozygous GA alleles. Conclusion: The GPRC6A rs2274911 is of frequent incidence in patients exhibiting metabolic abnormalities, infertility. Screening for GPRC6A in diabetic/ MTS, infertility patients will aid better therapeutic regimens and management of these disorders.

Keywords: GPRC6A, SNP, F464Y, MTS (Metabolic Syndrome), Ocn (osteocalcin).