Abstract:
:Success rate in human pregnancies is believed to be very low and sex-specific mechanisms may operate in prenatal loss. Assuming a sex-differential in prenatal loss exists, we examined genetic markers in biologically plausible targets in the HLA complex, other immune system-related and iron-regulatory genes in 388 healthy newborns from Wales (UK) using one sex as a control group for the other. Genotyping of 333 single nucleotide polymorphisms (SNPs) from 107 genes was achieved mainly by TaqMan assays. Twenty-two of autosomal SNPs showed frequency differences between 187 male and 201 female newborns either individually or as part of a haplotype. Of these, six markers (RXRB rs2076310, HLA complex haplotype HLA-DQA1 rs1142316-HLA-DRA rs7192-HSPA1B rs1061581, HIST1H1T rs198844, IFNG rs2069727, NKG2D rs10772266 and IRF4 heterozygosity) showed statistically robust differences between male and female newborns and multivariable modeling confirmed their independence. There were fewer males homozygote for combined wildtype genotypes of LIF rs929271, TP53 rs1042522 and MDM2 rs2279744 compared with females [OR = 0.3, 95% confidence interval (CI) = 0.1-0.8; P < 0.01] although these SNPs did not show any association individually. It is unlikely that SNPs have clinical utility as single markers in any trait with complex etiology but polygenic predictive models remain a possibility. If their validity is confirmed in larger studies of different populations and functional mechanisms of these preliminary associations are elucidated, these markers from the HLA complex, NKG2D region and cytokines may cumulatively have sufficient predictive value for susceptibility to prenatal selection in each sex.
journal_name
Mol Hum Reprodjournal_title
Molecular human reproductionauthors
Ucisik-Akkaya E,Davis CF,Do TN,Morrison BA,Stemmer SM,Amadio WJ,Dorak MTdoi
10.1093/molehr/gaq047subject
Has Abstractpub_date
2010-10-01 00:00:00pages
770-7issue
10eissn
1360-9947issn
1460-2407pii
gaq047journal_volume
16pub_type
杂志文章abstract::The etiology of preeclampsia is complex, with susceptibility being attributable to multiple environmental factors and a large genetic component. Although many candidate genes for preeclampsia have been suggested and studied, the specific causative genes still remain to be identified. Catechol-O-methyltransferase (COMT...
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abstract::Charcot-Marie-Tooth (CMT) disease type 1A is an autosomal dominant peripheral neuropathy characterized by slow progressive distal muscle wasting and weakness, and decreased nerve conduction velocities. Most CMT1A cases (>98%) are caused by a duplication of a 1.5 Mb region on the short arm of chromosome 17 containing t...
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journal_title:Molecular human reproduction
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pub_type: 杂志文章
doi:10.1093/molehr/6.9.861
更新日期:2000-09-01 00:00:00
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pub_type: 杂志文章,评审
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pub_type: 杂志文章,评审
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更新日期:1997-02-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/2.11.815
更新日期:1996-11-01 00:00:00
abstract::Uterine contractions are tightly regulated by the electrical activity of myometrial smooth muscle cells (MSMCs). These cells require a depolarizing current to initiate Ca(2+) influx and induce contraction. Cationic leak channels, which permit a steady flow of cations into a cell, are known to cause membrane depolariza...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gav038
更新日期:2015-10-01 00:00:00
abstract:STUDY HYPOTHESIS:What factors in mouse oocytes are involved in the ageing-related decline in oocyte quality? STUDY FINDING:The maternal effect gene Mater is involved in ageing-related oocyte quality decline in mice. WHAT IS KNOWN ALREADY:Premature loss of centromere cohesion is a hallmark of ageing-related oocyte qua...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaw001
更新日期:2016-04-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gar010
更新日期:2011-07-01 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
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gal098
更新日期:2007-01-01 00:00:00
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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::Imprinted genes are characterized by expression of only one of the two alleles according to its inheritance from the mother or the father. This mono-allelic expression must arise from primary differential epigenetic modification of the parental alleles of the imprinted gene in the spermatozoon and the oocyte. Most of ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/7.9.839
更新日期:2001-09-01 00:00:00
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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
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gag024
更新日期:2003-04-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/3.9.755
更新日期:1997-09-01 00:00:00
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pub_type: 杂志文章
doi:10.1093/molehr/8.9.823
更新日期:2002-09-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaq081
更新日期:2011-02-01 00:00:00
abstract::The human endometrium is a dynamic tissue, which undergoes extensive tissue remodelling during the menstrual cycle. Due to their involvement in such processes, several well-characterized matrix metalloproteinases (MMP) have previously been studied in the endometrium. MMP-26 is a newly described matrilysin. We studied ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gag039
更新日期:2003-05-01 00:00:00
abstract::Human endometrium is the major organ that produces glycodelin A (GdA). The production of endometrial GdA causes a fluctuation of the peripheral glycodelin concentrations in women during the menstrual cycle and pregnancy. It has recently been reported that the rise of plasma concentrations of glycodelin is correlated w...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/5.4.372
更新日期:1999-04-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
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更新日期:2001-05-01 00:00:00
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....
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pub_type: 杂志文章
doi:10.1093/molehr/gaaa082
更新日期:2021-01-22 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
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更新日期:2015-02-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
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更新日期:2005-05-01 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
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更新日期:1996-10-01 00:00:00