Abstract:
:The etiology and pathogenesis of endometriosis are complex with both genetic and environmental factors contributing to disease risk. Genome-wide association studies (GWAS) have identified multiple signals in the estrogen receptor 1 (ESR1) region associated with endometriosis and other reproductive traits and diseases. In addition, candidate gene association studies identified signals in the ESR1 region associated with endometriosis risk suggesting genetic regulation of genes in this region may be important for reproductive health. This study aimed to investigate hormonal and genetic regulation of genes in the ESR1 region in human endometrium. Changes in serum oestradiol and progesterone concentrations and expression of hormone receptors ESR1 and progesterone receptor (PGR) were assessed in endometrial samples from 135 women collected at various stages of the menstrual cycle. Correlation between hormone concentrations, receptor expression and expression of genes in the ESR1 locus was investigated. The effect of endometriosis risk variants on expression of genes in the region was analyzed to identify gene targets. Hormone concentrations and receptor expression varied significantly across the menstrual cycle. Expression of genes in the ESR1 region correlated with progesterone concentration; however, they were more strongly correlated with expression of ESR1 and PGR suggesting coregulation of genes. There was no evidence that endometriosis risk variants directly regulated expression of genes in the region. Limited sample size and cellular heterogeneity in endometrial tissue may impact the ability to detect significant genetic effects on gene expression. Effects of these variants should be validated in a larger dataset and in relevant individual cell types.
journal_name
Mol Hum Reprodjournal_title
Molecular human reproductionauthors
Marla S,Mortlock S,Houshdaran S,Fung J,McKinnon B,Holdsworth-Carson SJ,Girling JE,Rogers PAW,Giudice LC,Montgomery GWdoi
10.1093/molehr/gaaa082subject
Has Abstractpub_date
2021-01-22 00:00:00issue
1eissn
1360-9947issn
1460-2407pii
6062408journal_volume
27pub_type
杂志文章abstract::Type I inositol 1,4,5-trisphosphate-sensitive receptors (InsP(3)R) are expressed in human oocytes and may be involved in operating the Ca(2+) release triggered by the fertilizing sperm. This study examines the contribution of type I InsP(3)R in operating Ca(2+) release in human oocytes secondary to InsP(3) itself, usi...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/8.10.912
更新日期:2002-10-01 00:00:00
abstract::Ever since work on pluripotency induction was originally published, reporting the reprogramming of somatic cells to induced pluripotent stem cells (iPS cells) by the ectopic expression of the four transcription factors Oct4, Sox2, Klf4 and c-Myc, high expectations regarding their potential use for regenerative medicin...
journal_title:Molecular human reproduction
pub_type: 杂志文章,评审
doi:10.1093/molehr/gaq059
更新日期:2010-11-01 00:00:00
abstract::The aim of the present study was to investigate the potential role of Toll-like receptor 4 (TLR4) in lipopolysaccharide (LPS)-induced preterm delivery. Intraperitoneal injection of LPS in the presence or absence of previous TLR4 blockade was performed to establish a murine model of preterm delivery. The incidences of ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gap106
更新日期:2010-04-01 00:00:00
abstract::Polar body emission is a specialized cell division throughout the animal kingdom, serving to reduce chromosome ploidy while preserving the egg cytoplasm. Critical to polar body emission are the asymmetric positioning of the meiotic spindle prior to anaphase, with one pole attached to the oocyte cortex, and the simulta...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gar026
更新日期:2011-05-01 00:00:00
abstract::This study was undertaken to localize ryanodine-sensitive Ca2+ stores in human oocytes and to evaluate their role in the Ca2+ oscillations responsible for oocyte activation at fertilization. The addition of ryanodine provoked a Ca2+ discharge from stores localized throughout the ooplasm with the exception of the corti...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/2.4.265
更新日期:1996-04-01 00:00:00
abstract::In spite of progress in diagnosis and treatment, prostate cancer has become one of the most frequent lethal cancers in males in many Western industrialized countries. Research on the molecular biology of prostate cancer is expected to reveal those aspects of Western lifestyle contributing to its high incidence with th...
journal_title:Molecular human reproduction
pub_type: 杂志文章,评审
doi:10.1093/molehr/gag064
更新日期:2003-08-01 00:00:00
abstract::Prostaglandin F2α (PGF2α) plays a critical role in the initiation and process of parturition. Since human labor has been described as an inflammatory event, we investigated the role of PGF2α in the inflammatory process using cultured human uterine smooth muscle cells (HUSMCs) isolated from term pregnant women as a mod...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gav018
更新日期:2015-07-01 00:00:00
abstract::Immunocytochemistry was used to localize endothelial (eNOS) and inducible (iNOS) nitric oxide synthase in human uterine tissues collected at various stages of the menstrual cycle, after exposure to exogenous progestagens, and in early pregnancy. Endothelial NOS-like immunoreactivity was detected in all specimens in en...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/3.1.69
更新日期:1997-01-01 00:00:00
abstract::Prevention of mitochondrial DNA (mtDNA) diseases may currently be possible using germline nuclear transfer (NT). However, scientific evidence to compare efficiency of different NT techniques to overcome mtDNA diseases is lacking. Here, we performed four types of NT, including first or second polar body transfer (PB1/2...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaz062
更新日期:2019-12-01 00:00:00
abstract::A molecule isolated from the peritoneal fluids of women undergoing laparoscopy for in-vitro fertilization techniques has been chemically characterized and identified as 1-palmitic-3-phosphorylcholine (lysophosphatidylcholine, LPC). This lipid is able, at physiological concentrations, to completely inhibit sperm motili...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/3.3.241
更新日期:1997-03-01 00:00:00
abstract::It is well known that human embryonic stem cells (hESCs) frequently acquire recurrent chromosomal abnormalities, very reminiscent of those found in cancerous cells. Given the parallels between cancer and stem cell biology, we set out to investigate the occurrence of a common form of genome instability in tumors, namel...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gau059
更新日期:2014-10-01 00:00:00
abstract::Fluorescent in situ hybridization (FISH) studies of human preimplantation embryos have demonstrated a high proportion of chromosomal mosaicism. To investigate the different timings and nature of chromosomal mosaicism, we developed single cell multiplex fluorescent (FL)-PCR to distinguish meiotic and mitotic cell divis...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gah017
更新日期:2004-02-01 00:00:00
abstract::Cytogenetically, uterine leiomyomata are the best investigated human tumours. The most frequent clonal abnormalities are structural rearrangements involving 12q14-15 and deletions of part of the long arm of chromosome 7. The present study investigated a possible growth advantage conferred by these abnormalities, when ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/5.12.1150
更新日期:1999-12-01 00:00:00
abstract::This study was initiated to determine the relationship between the fertilizing potential of spermatozoa and abnormalities in the compact packing of their chromatin which occurs in the final stage of male germ cell differentiation. Chromatin packing involves disulphide bridge covalent cross-linking. The degree of packi...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/5.9.825
更新日期:1999-09-01 00:00:00
abstract::Deletions of the AZFc interval of the human Y chromosome are found in >5% of male patients with idiopathic infertility and are associated with a severely reduced sperm count. The most common deletion type is large (>1 Mb) and removes members of the Y-borne testis-specific gene families of BPY2, CDY1, DAZ, PRY, RBMY2 a...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/6.9.789
更新日期:2000-09-01 00:00:00
abstract::The causes for recurrent spontaneous abortion (RSA) remain unknown in a large proportion of the cases. Human leukocyte antigen (HLA)-G and HLA-E are expressed on invasive trophoblast cells, and are supposed to confer to materno-fetal tolerance. A total of 14 different nucleotide sequences have been described for HLA-G...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/7.4.373
更新日期:2001-04-01 00:00:00
abstract::Prostaglandin E2 (PGE2) plays a key role in the maintenance of human pregnancy and labour onset. PGE2 can elicit diverse actions within the uterus depending on the PGE2 receptors (EP1, EP2, EP3 and EP4) expressed. By signalling through different intracellular pathways the EP receptors may inhibit or promote smooth mus...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gah158
更新日期:2005-04-01 00:00:00
abstract:STUDY QUESTION:Do human adult Leydig cells (ALCs) within hyperplastic micronodules display characteristics of foetal LCs (FLCs)? SUMMARY ANSWER:The gene expression profiles of FLCs and all ALC subgroups were clearly different, but there were no significant differences in expressed genes between the normally clustered ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gax012
更新日期:2017-05-01 00:00:00
abstract::Glycoforms of recombinant human follicle stimulating hormone (rhFSH) (Org 32489, Puregon) were characterized using concanavalin A lectin affinity chromatography to reveal information about the internal carbohydrate complexity (extent of carbohydrate side-chain branching) of the preparations. The rhFSH glycoforms were ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/2.10.807
更新日期:1996-10-01 00:00:00
abstract::A major challenge in the comprehension of the endometrial transformations leading to the completion of each menstrual cycle in humans is in the identification of specific molecular pathways underlying these monthly turnovers. Towards this goal we compared, by the differential display technique, the relative expression...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gag084
更新日期:2003-11-01 00:00:00
abstract::Successful embryo implantation depends on the quality of the embryo, as well as on the receptivity of the endometrium. The aim of this study was to investigate the endometrial gene expression profile in women with unexplained infertility in comparison with fertile controls at the time of embryo implantation in order t...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gap102
更新日期:2010-03-01 00:00:00
abstract::Indoleamine 2,3-dioxygenase-1 (IDO1) is an intracellular enzyme that catalyses essential amino acid tryptophan along the kynurenine pathway. The aim of this study was to determine the impact of IDO1 expression on the biological characteristic of the endometrial stromal cells (ESCs). IDO1, cyclooxygenase-2 (COX-2) and ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gas021
更新日期:2012-10-01 00:00:00
abstract::Morphological assessments are the main way in which fertility clinics select in vitro generated embryo(s) for transfer to the uterus. However, it is widely acknowledged that the microscopic appearance of an embryo is only weakly correlated with its viability. Furthermore, the extent to which morphology is affected by ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gat073
更新日期:2014-02-01 00:00:00
abstract::A complete hydatidiform mole (CHM) is an abnormal pregnancy with hyperproliferative vesicular trophoblast and no fetal development. Most CHM are sporadic and androgenetic, but recurrent HM have biparental inheritance (BiHM) with disrupted DNA methylation at differentially methylated regions (DMRs) of imprinted loci. S...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gam079
更新日期:2008-01-01 00:00:00
abstract::Oxidative damage by reactive oxygen species (ROS) is a major cause of sperm dysfunction. Excessive ROS generation reduces fertilization and enhances DNA damage of spermatozoa. Interaction between spermatozoa and oviductal epithelial cells improves the fertilizing ability of and reduces chromatin damage in spermatozoa....
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gav015
更新日期:2015-06-01 00:00:00
abstract::Mouse cauda epididymis were in-vivo transfected using the lipid FuGENE 6 as gene vector. Two gene constructions were employed: the p-GeneGRIP which codifies for the Green Fluorescent Protein (GFP) and the pSEAP-control that expresses an alkaline phosphatase as a secretion. Transfection was detected by fluorescence and...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gap026
更新日期:2009-06-01 00:00:00
abstract::Several laboratories have independently isolated mitotically active germ cells, termed female germline stem cells or oogonial stem cells (OSCs), from adult mouse ovaries. However, a recent study using Ddx4-Cre;Rosa26 reporter mice concluded that such germ cells do not exist. Given the disparity in conclusions drawn in...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gau071
更新日期:2015-01-01 00:00:00
abstract:STUDY HYPOTHESIS:Does a preferential X chromosome inactivation (XCI) pattern exist in female human pluripotent stem cells (hPSCs) and does the pattern change during long-term culture or upon differentiation? STUDY FINDING:We identified two independent phenomena that lead to aberrant XCI patterns in female hPSC: a rapi...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaw004
更新日期:2016-04-01 00:00:00
abstract::Before the advent of intracytoplasmic sperm injection (ICSI) semen preparation techniques focused on the need to sustain the fertilizing potential of the spermatozoa particularly by reducing oxidative stress. However, for severely oligozoospermic patients treated by ICSI, sperm preparation protocols are used which aim...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/4.5.439
更新日期:1998-05-01 00:00:00
abstract:STUDY QUESTION:Can RNA sequencing of human cumulus cells (CC) reveal molecular pathways involved in the physiology of reproductive aging? STUDY FINDING:Senescent but not young CC activate gene pathways associated with hypoxia and oxidative stress. WHAT IS KNOWN ALREADY:Shifts in socioeconomic norms are resulting in l...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaw038
更新日期:2016-08-01 00:00:00