hrvatski

Varijante gena za progesteronski receptor u modulaciji rizika spontanog prijevremenog porođaja

Premature birth (PTB) is defined as a live birth before 37 weeks of gestation. One of the recognized risk factors for PTB is a maternal and/or fetal genetic predisposition. The aim of the study was to evaluate the roles of four selected genetic variations in fetal and maternal progesterone receptor gene (PGR) and to identify women who may have higher or lower odds for PTB compared to the general population. The study was conducted between November 2017 and January 2021. It was case- control study, which enrolled two groups of pregnant women (109 women who delivered at term and 109 women who had a preterm delivery) and two groups of newborns (109 term and 109 preterm). Venous blood samples were taken from pregnant women and blood from the umbilical cord of the newborns once after obtaining informed consent. Four described genetic variants of PGR (rs1042838, rs1042839, rs10895068, and rs1932836) were analyzed. Statistical analysis has been made. There was statistically significant difference between cases and controls in the distribution of newborns’ allele frequency of minor C allele of the PGR rs1942836 (P=0.03, Fishers exact test) in favor of premature birth. A statistically significant difference between the frequency of the mothers’ minor T allele of rs1042838 (P = 0.005 ; Chi-squared test) and the mothers’ minor T allele of rs1042839 (P = 0.005 ; Chi-squared test) in favor of extremely premature birth has been found. There was a statistically significant difference between the frequency of the newborns’ minor C allele of rs1942836 (P = 0.03 ; Chi-squared Test) and newborns’ heterozygotes CT genotype of rs1942836 (P = 0.03 ; Fishers’ exact Test) when comparing the control group and the early premature group. The present study suggests that patients with selected genetic variants of the progesterone receptor gene (mothers rs1042838 and rs1042839, newborns rs1942836) could have greater odds for premature birth compared to general population.

genetičke varijante ; prijevremeni porod ; progesteron ; progesteronski recepor, polimorfizam jednog nukleotida

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