Cytokine gene polymorphisms and recurrent pregnancy loss in population of Delhi

Abstract

The present disease association study was planned to test the hypothesis that the cytokine gene polymorphisms, known to result in higher pro-inflammatory cytokine production, are significantly associated with recurrent pregnancy loss (RPL). The aim of the study was to replicate and validate the suspected molecular markers related to RPL (identified through candidate gene approach) in Nort Indian population inhabiting Delhi. The objectives of the present study were to find out the frequency distribution of TNF-_ (-308 G/A; rs1800629), TNF-_ (+252 A/G; rs909253) and IFN-_ (+874 A/T; rs2430561) cytokine gene polymorphisms in the RPL cases and controls and to estimate the extent of association between the selected candidate gene markers and RPL in population of Delhi. In addition, linkage disequilibrium (LD) between TNF-_ and TNF-_ polymorphisms located in the same chromosome was estimated in the studied population and the extent of association between TNF- _ / TNF-_ haplotypes and RPL cases in population of Delhi was evaluated. In order to achieve the above listed objectives, a population based casecontrol disease association design was planned wherein two study groups were genotyped for the three selected molecular markers. The raw genetic data obtained were statistically analyzed to reveal an association, if any, between the selected cytokine gene polymorphisms and recurrent pregnancy loss using snpstats and HAPLOVIEW softwares. The methodology of the present work involved a pilot survey, main fieldwork, molecular laboratory analysis and statistical analysis.