Progesterone receptor genotype, family history, and spontaneous preterm birth (original) (raw)
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International Journal of Gynecology & Obstetrics, 2008
Objective: To determine whether increased frequency of mutant alleles of the progesterone receptor gene (PGR) was associated with preterm birth in a population of Hispanic women. Methods: Placental DNA from 64 patients who had preterm births and 54 control patients was genotyped for 4 progesterone receptor gene polymorphisms by polymerase chain reaction (PCR) restriction fragment length polymorphism. The v 2 test and t test were used to calculate statistical significance. Linkage disequilibrium was calculated using the Linkage Disequilibrium Analyzer program. Results: The genotypic frequencies of the 4 polymorphisms were not significantly different between the study and control groups. In addition, there was complete linkage disequilibrium between V660L, H770H, and PROGINS polymorphisms, but not with +331G/A polymorphism. Conclusions: The present study suggests that polymorphisms in the progesterone receptor gene are unlikely to be associated with an increased risk of preterm birth in a Hispanic population.
Progesterone Receptor (PGR) gene polymorphism is associated with susceptibility to preterm birth
BMC Medical Genetics, 2015
Background: Preterm birth (PTB) is the major cause of death in newborn and the second major cause of death in children less than 5 years old worldwide. Genetic polymorphism has been implicated as a factor for the occurrence of preterm birth. The aim of this study is to evaluate whether polymorphism in the progesterone receptor (PGR) is associated with susceptibility to preterm birth. Methods: A total of 135 women with preterm and 532 women with term deliveries were genotyped for PGR gene polymorphisms (rs660149, rs471767, rs10895068) using Sequenom MassARRAY platform. Results: The G allele of PGR rs660149 polymorphism was significantly associated with susceptibility to PTB in the Malay women. The odds of G allele occurring among Malay women with preterm delivery was twice that of Malay women with term delivery (OR 2.3, 95 % CI (1.2-4.5, P = 0.011). Alternatively, no significant association was observed between PGR rs660149 polymorphisms and susceptibility to PTB in Chinese and Indian women. Conclusions: This study shows that variability in the occurrence of PTB across ethnicities in Malaysia is partly due to differences in genetic background. We therefore suggest that in addition to life style and environmental factors, genetic factor should be greatly considered in this population. Prior information on the genetic composition of women may help in the identification and management of women at risk of preterm birth complication.
The Journal of Obstetrics and Gynecology Research, 2022
Aim: 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 spontaneous premature birth compared to the general population. Methods: A preliminary case-control study with two groups of pregnant women (with term and premature delivery, 218 in total) and two groups of newborns (term and preterm, 218 in total) was performed. Four single nucleotide polymorphisms (SNPs) of the progesterone receptor gene (rs1042838, rs1042839, rs10895068, and rs1942836) were genotyped. Results: There was statistically significant difference between cases and controls in the distribution of newborns' allele frequency of minor C allele of the PGR SNP 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 group of term births and the group of early premature birth. Conclusion: Our study suggests that patients with selected genetic variants of the progesterone receptor gene could have greater odds for premature birth compared to term birth. Replication studies with a larger population and different ethnicity are needed in order to confirm these findings.
Journal of Perinatology, 2012
Objective-To investigate genetic etiologies of preterm birth (PTB) in Argentina through evaluation of single-nucleotide polymorphisms (SNP) in candidate genes and population genetic admixture. Study Design-Genotyping was performed in 389 families. Maternal, paternal, and fetal effects were studied separately. Mitochondrial DNA (mtDNA) was sequenced in 50 males and 50 females. Y-chromosome anthropological markers were evaluated in 50 males. Results-Fetal association with PTB was found in the progesterone receptor (PGR, rs1942836; p= 0.004). Maternal association with PTB was found in small conductance calcium activated potassium channel isoform 3 (KCNN3, rs883319; p= 0.01). Gestational age associated with PTB
Absence of Mitochondrial Progesterone Receptor Polymorphisms in Women With Spontaneous Preterm Birth
Reproductive Sciences, 2010
PRs with the exception of an amino terminus hydrophobic membrane localization sequence, which localizes PR-M to mitochondria. Given the matrilineal inheritance of both spontaneous preterm birth (SPTB) and the mitochondrial genome, we hypothesized that (a) PR-M is polymorphic and (b) PR-M localization sequence polymorphisms could result in variable progesterone mitochondrial effects and variable responsiveness to progesterone prophylaxis.
PROGINS mutation of progesterone receptors and its role in premature birth… 55 Southeastern
2017
Premature birth (prior to 37 weeks of gestation) is a big medical and socioeconomic problem. It accounts for 8-12% of the total number of births, and apart from causing increased mortality of newborns, it is also the cause of increased morbidity. Fifteen million babies per year are born preterm. Despite the frequency, consequences and costs of premature delivery, very little has been done for preventing it, especially for preventing extremely premature deliveries (before the 28th gestation week). Etiology of premature labor is multifactorial, and includes pathophysiology, genetic and environmental factors. Recent scientific research shows that genetic factors, mostly present in the mother's genome, account for up to 40% of variation in the delivery time. It is believed that premature birth exhibits the same cascade of events like a normal birth, only it starts sooner. This process is controlled by a series of hormonal effects between the fetus, the placenta and the mother. One o...
Journal of Perinatology, 2009
Objective: To describe prostanoid DP receptor (PTGDR) variants in women with preterm births who admitted to coital activity (CA) within 24 h of labor. Study Design: To achieve >80% statistical power, a pilot case-control study compared 24 premature births from mothers with CA (Group 1), 30 mothers of premature infants who did not have CA (Group 2 non-coital activity) and 95 non-coital activity mothers with term births (Group 3 controls). Four functional PTDGR single nucleotide polymorphisms (SNPs) were evaluated: T-549C, C-441/T, T-197C and G þ 1044A. PHASE 2.0.2 and SAS 9.2 were used for analysis. Result: All SNPs were in Hardy-Weinberg equilibrium in controls. The C-441/T genotype frequency was significantly increased among Group 1 women relative to Group 2 and 3 women (odds ratio (OR): 30.1, 95% confidence interval (CI) 6.9-191 and 25.7 95%CI 25.7-not computible, respectively). Of the possible haplotypes among the groups, the TCTG haplotype (T-549C, C-441/T, T-197C and G þ 1044A) was significantly more frequent in Group 1 women compared with the control groups (OR 53.4, 95%CI 10.3-554.8). Conclusions: A differential genomic pattern of PTGDR polymorphisms was identified in a subset of mothers which was associated with an increased risk of post-coital preterm birth.
PROGINS Mutation of Progesterone Receptors and Its Role in Premature Birth – An Overview
2017
Premature birth (prior to 37 weeks of gestation) is a big medical and socioeconomic problem. It accounts for 8 - 12% of the total number of births, and apart from causing increased mortality of newborns, it is also the cause of increased morbidity. Fifteen million babies per year are born preterm. Despite the frequency, consequences and costs of premature delivery, very little has been done for preventing it, especially for preventing extremely premature deliveries (before the 28th gestation week). Etiology of premature labor is multifactorial, and includes pathophysiology, genetic and environmental factors. Recent scientific research shows that genetic factors, mostly present in the mother's genome, account for up to 40% of variation in the delivery time. It is believed that premature birth exhibits the same cascade of events like a normal birth, only it starts sooner. This process is controlled by a series of hormonal effects between the fetus, the placenta and the mother. One...