rs34845949 polymorphism of the SASH1 gene is associated with the risk of preeclampsia
Background: Preeclampsia (PE) is a multisystem pathological condition that occurs in the second half of pregnancy (after the 20th week), characterized by arterial hypertension in combination with proteinuria (≥0.3 g/L in daily urine), often, edema and manifestations of multiple organ/polysystemic dysfunction/failure. The aim of the study: To assess the relationship of polymorphism of differentially expressed genes of the placenta with the risk of preeclampsia. Materials and methods: For the study, a sample of 366 pregnant women with preeclampsia and 631 women in the control group was formed. Multiplex genotyping of single nucleotide polymorphisms (SNPs) of differentially expressed placental genes was performed using MALDI-TOF spectrometry. Seven SNPs of four genes were selected for the study (PAPPA2, SASH1, RDH13, PPP1R12C). To assess the associations of SNPs with the risk of preeclampsia, we used log-linear regression analysis in three genetic models (additive, recessive, dominant). Results: Allele С rs34845949 SASH1 is associated with the development of preeclampsia within the additive (OR=1.27, 95%Сl 1.01-1.59, р=0.042) and dominant (OR=1.35, 95%Сl 1.01-1.82, р=0.043) models of the interaction of alleles. Conclusion: Allele С rs34845949 SASH1 is a risk factor for the development of preeclampsia in pregnant women in the Central Black Earth Region of Russia.