Abstract
Genomic and proteomic analysis of females with idiopathic recurrent early pregnancy loss (REPL) to find the unknown etiological factors involved. A case-control based study approach. Well-defined idiopathic REPL subjects (n=145) as well as control females (n=84) were included for the genotyping studies. For studying platelet proteome profiles, 25 cases and 10 controls were included. Polymorphisms in detoxification genes (NAT1, NAT2, CYP1A1, CYP2D6, SULT1A1, CYP17, CYP19, aryl hydrocarbon receptor, aryl hydrocarbon receptor repressor), vasoregulatory genes (eNOS, VEGF, anandamide hydrolase) and genes involved in blood homeostasis (Prothrombin, Factor V Leiden) were analyzed and their significance was estimated using a two tailed Fisher’s P-value at 95% significance level. Haplotype analysis of the unphased data using expectation-maximization was done wherever necessary. Platelet proteome analysis was carried out after isolation and solublization of platelets. Two dimensional gel electrophoresis using 3-10 range IPG strips and 12% SDS-PAGE was used for the separation of the proteins. Polymorphisms in CYP1A1 (C4887A and T6235C) showed significant association with REPL as evidenced by logistic regression and haplotype analysis. Novel variants were observed in CYP2D6, anandamide hydrolase, eNOS and were found to be associated with REPL. Apart from these results, present study revealed the lack of association between REPL with other variants pressing the need to consider the ethnic background in epidemiological studies. Proteome analysis of platelets revealed a differential expression pattern in three proteins with approximate molecular masses of 65kDa, 35kDa and 20kDa which were exclusively present in REPL females. Present study revealed certain novel and already reported polymorphisms in a multitude of genes to be associated with the risk of REPL. A role of genetic factor in REPL is further strengthened by the proteome analysis of platelets.
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