Novel association of SNP rs479200 in EGLN1 gene with predisposition to preeclampsia.

OBJECTIVES: Placental hypoxia is a hallmark of preeclampsia. SNP rs479200 in the EGLN1 gene is associated with reduced responsiveness to hypoxia. Whether this translates into an association between SNP rs479200 and preeclampsia is not known. We evaluated the association of SNP rs479200 (T>C) with the risk of preeclampsia. METHODS: This case-control study involved 600 pregnant women of whom 300 were preeclamptic and 300 were normotensive. SNP rs479200 was genotyped by PCR-RFLP method. RESULT: Minor allele frequency was 44% in preeclamptic women and 53% in normotensive pregnant women (P = 1.8 × 10-3; odds ratio = 1.43). The odds ratio was heterogeneous when compared after categorization of the preeclamptic group into clinical sub-groups. The association was significant with both mild (P = 6.2 × 10-5) and severe (3.8 × 10-3) preeclampsia. However, the odds ratio was 0.52 for mild preeclampsia and 1.43 for severe preeclampsia. CONCLUSION: The minor allele of SNP rs479200 is associated with the predisposition to preeclampsia. This association underlines the importance of oxygen sensing in the pathogenesis of preeclampsia.

Atrial fibrillation associated genetic variation near PITX2 gene increases the risk of preeclampsia.

OBJECTIVES: SNP rs2200733 located near PITX2 gene is associated with the risk of atrial fibrillation. Preeclamptic women are at increased risk of developing cardiovascular disease like atrial fibrillation. Whether this translates into an association between SNP rs2200733 and preeclampsia is not known. Therefore, we determined the association of SNP rs2200733 (C/T) with the risk of preeclampsia. STUDY DESIGN: A hospital based prospective case-control study involving 585 pregnant women of whom 285 were preeclamptic and 300 were normotensive. SNP rs2200733 was genotyped by PCR-RFLP method. MAIN OUTCOME MEASURES: Statistical significance of the difference in the minor allele frequency between case and control groups was determined by Fisher's exact test. RESULTS: Minor allele frequency was 21.4% among preeclamptic pregnant women and 13.7% among normotensive pregnant women (P = 0.00064; odds ratio = 1.72 (0.95 CI: 1.23-2.41). The measures of association were heterogeneous when compared after categorisation of the preeclamptic group into clinical sub-groups. The association was not significant with the eclampsia sub-group (P = 0.39) but relatively higher with the sub-group not superimposed by eclampsia (P = 0.0000048; odds ratio = 2.10 [0.95CI: 1.50-2.92]). Furthermore, the association was relatively higher with the sub-group involving intrauterine growth retardation and intrauterine death (P = 0.00017; odds ratio = 2.89 (0.95CI: 1.65-4.94)]. CONCLUSIONS: Minor allele of SNP rs2200733 is associated with the risk of preeclampsia. SNP rs220073 may represent a common risk factor that predispose women to develop both preeclampsia during pregnancy and cardiovascular disease later on.

Molluscum Contagiosum of Cervix - A Case Report.

Molluscum Contagiosum (MC) is a common viral infection of skin caused by a double stranded DNA Pox virus affecting both adults and children. MC is primarily an infection of school-going children (one to five years), occasionally it affects adults and immunocompromised individuals. Transmission of virus occurs by direct contact with infected persons or contaminated objects. Most common sites are skin of face, trunk and extremities in children, genitals in adults and rarely palms, soles and mucous membranes. The occurrence of MC in genitals is lowest (3%). We present a case report of Molluscum Contagiosum of cervix which is a rare site; only one case has been reported in medical literature till date.