Abstract:
:Although the genetic origin of many human diseases and phenotypes has been long and widely recognized, identification of the causative gene alleles has been limited, slow, and cumbersome. This has changed substantially with the introduction of genome-wide association studies (GWASs) a decade ago, fueled by studies and reference projects of human genetic diversity and the development of novel DNA analysis technology applicable to high-throughput and large-scale data generation. Although GWASs essentially combine epidemiological study designs with molecular genetic analysis techniques, it has also fundamentally changed the way in which research was done in human genetics by the introduction of large consortia of collaborating investigators. GWASs have over flooded many clinical and basic research areas with gene discoveries, including those in reproductive medicine. This review describes aspects of GWAS methodology and how this field of human genetics is developing.
journal_name
Semin Reprod Medjournal_title
Seminars in reproductive medicineauthors
Uitterlinden AGdoi
10.1055/s-0036-1585406subject
Has Abstractpub_date
2016-07-01 00:00:00pages
196-204issue
4eissn
1526-8004issn
1526-4564journal_volume
34pub_type
杂志文章abstract::Despite the critical role the placenta plays in governing the outcome of pregnancy, a great deal remains to be learned about this transient organ. Several factors have contributed to our relative lack of knowledge. For example, most of the placenta's development, which precedes that of the embryo or fetus, occurs duri...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-2000-12569
更新日期:2000-01-01 00:00:00
abstract::Endometriosis is a common cause of pelvic pain in women of reproductive age. Traditional medical therapies are hormonal in nature, including estrogen-progestin contraceptives, progestins, and gonadotropin-releasing hormone (GnRH) agonists. Other hormonal options are androgens and aromatase inhibitors, with research al...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-0036-1597308
更新日期:2017-01-01 00:00:00
abstract::Male infertility is a condition that affects approximately 50% of infertile couples and about 30% of those couples have only male factor infertility identified. There has been speculation that male military service members may have an even greater lifetime prevalence of infertility as compared to the general populatio...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-0039-1694027
更新日期:2019-01-01 00:00:00
abstract::The birth of a child with ambiguous genitalia is a challenging and distressing event for the family and physician and one with life-long consequences. Most disorders of sexual differentiation (DSD) associated with ambiguous genitalia are the result either of inappropriate virilization of girls or incomplete virilizati...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-0032-1324717
更新日期:2012-10-01 00:00:00
abstract::There is increasing evidence that endometriosis is inherited as a complex genetic trait in which multiple genes conferring disease susceptibility interact with each other and the environment to produce the phenotype. Research groups worldwide are trying to identify such susceptibility genes through a "positional cloni...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-2003-41317
更新日期:2003-05-01 00:00:00
abstract::Endocrine-disrupting chemicals generally function as steroid receptor signaling antagonists or agonists that influence development to promote adult-onset disease. Exposure to the endocrine disruptors during the initiation of male reproductive tract development interferes with the normal hormonal signaling and formatio...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-0029-1237428
更新日期:2009-09-01 00:00:00
abstract::In this article the role of LH receptor gene mutations in patients with aberrant sex differentiation is discussed. In a dominant autosomal familial form of precocious puberty in boys (familial male-limited precocious puberty) LH receptor gene mutations have been identified. These single amino acid changes, mostly foun...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-2002-35384
更新日期:2002-08-01 00:00:00
abstract::The maternal-fetal environment plays an important role in developmental programming of adult disease. Metabolic and hormonal dysfunction during human fetal development accompanies gestational diabetes as a common occurrence in mothers with polycystic ovary syndrome (PCOS), while human fetal androgen excess from congen...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-0034-1371087
更新日期:2014-05-01 00:00:00
abstract::Complementary therapies and medicines are a broad and diverse range of treatments, and are frequently used by women and their partners during the preconception period to assist with infertility, and to address pregnancy-related conditions. Despite frequent use, the evidence examining the efficacy, effectiveness, and s...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-0035-1571194
更新日期:2016-03-01 00:00:00
abstract::As sperm traverse the female tract from vagina to oocyte, they experience a steroid milieu, which due to transcriptional inactivity, they can only respond to via non-genomic signaling. This environment mediates events including capacitation, changes in motility patterns, chemotaxis, and acrosome reaction. Current know...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-2007-973433
更新日期:2007-05-01 00:00:00
abstract::Female genital tract microbiota play a crucial role in maintaining health. Disequilibrium of the microbiota has been associated with increased risk of pelvic infections. In recent years, culture-independent molecular techniques have expanded understanding of the composition of genital microbiota and the dynamic nature...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-0033-1361822
更新日期:2014-01-01 00:00:00
abstract::Premature ovarian failure (POF) is a disorder characterized by lack of ovulation and elevated levels of serum gonadotropins before the age of 40. The etiology of POF is not known but different environmental and genetic factors are involved, suggesting high heterogeneity of the disorder. The involvement of X-linked gen...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-2000-13475
更新日期:2000-01-01 00:00:00
abstract::Intraperitoneal adhesions remain a costly, long-term sequela of abdominal surgery. They cause significant postoperative morbidity and difficult reoperative surgery. Although adhesions have been recognized for more than 250 years, a uniformly effective method of adhesion prevention does not exist. In recent years, rese...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-0028-1082391
更新日期:2008-07-01 00:00:00
abstract::During most of gestation, the fetal adrenal gland is almost solely dedicated to the production of dehydroepiandrosterone sulfate (DHEA-S). This specialized ability of the fetal adrenal is unique to primates and occurs because of a specialized fetal zone that composes the bulk of the fetal adrenal gland. Morphologicall...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-2004-861549
更新日期:2004-11-01 00:00:00
abstract::Most of the patients with 5α-RD 2 deficiency are reared in the female social sex due to their severely undervirilized external genitalia but ~60% who have not been submitted to orchiectomy in childhood undergo male social sex change at puberty. In our cohort of 30 cases from 18 families, all subjects were registered i...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-0032-1324727
更新日期:2012-10-01 00:00:00
abstract::Inhibin is a dimeric glycoprotein that suppresses follicle-stimulating hormone (FSH) secretion from the pituitary. Two bioactive forms of inhibin exist, inhibin A and B. The availability of specific immunoassays for each of the isoforms has enabled the study of the individual inhibins and their physiological roles. In...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-2004-831893
更新日期:2004-08-01 00:00:00
abstract::Contraceptive vaginal rings (CVRs) contain sex steroids that diffuse through a plastic polymer ring at a constant rate and are absorbed directly through the vaginal epithelium into the systemic circulation. This delivery system provides many advantages over oral contraceptives (OCs), including avoidance of the first-p...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-2001-18646
更新日期:2001-12-01 00:00:00
abstract::Noncommunicable diseases (NCDs), long considered diseases of little significance to global health, represent the greatest threat to economic development and human health. The main NCDs-diabetes, cancer, cardiovascular disease, and chronic respiratory disease-are the world's number one killer and bear the greatest burd...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章
doi:10.1055/s-0034-1395277
更新日期:2015-01-01 00:00:00
abstract::In vitro maturation of oocytes is a safe and effective treatment offered in some fertility centers for assisted reproduction, where immature oocytes are retrieved from unstimulated ovaries. Therefore, the procedure avoids ovarian stimulation with expensive gonadotropins, side effects of the medications, and risks such...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-2005-872452
更新日期:2005-08-01 00:00:00
abstract::Soon after implantation, cell lineages bifurcate into future somatic and germ cells. Canonical expression of germ cell-specific genes continues during and after their migration to the gonadal ridge, where, after further cell cycles, they enter meiosis, form syncytial clusters, and arrest at diplotene for folliculogene...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-0033-1356475
更新日期:2013-11-01 00:00:00
abstract::Endometriosis is a nonmalignant gynecologic disorder that can have a significant impact on a woman's quality of life with pelvic pain and possible lasting effects on one's fertility. Symptoms, when present, can be severe and affect many organ systems including the gastrointestinal and urinary systems. Other etiologies...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-0038-1676103
更新日期:2018-03-01 00:00:00
abstract::Androgen receptors are present in numerous tissues throughout the female body, and knowledge of the specific actions of androgens at different sites is increasing, along with the understanding of their contribution to various pathophysiological states. This article reviews the physiology of androgens (testosterone and...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-2006-939565
更新日期:2006-04-01 00:00:00
abstract::Gonadotropins cross the vascular endothelial barrier to reach their target organs. Hormone concentrations in blood are very low and fluctuate rapidly to give sharp biological effects. Nonspecific transendothelial transport mechanisms are slow and markedly concentration dependent. There is thus a need for specific tran...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-2001-13916
更新日期:2001-01-01 00:00:00
abstract::Luteinizing hormone (LH) and human chorionic gonadotropin (hCG) share a common receptor in gonadal cells; however, the presence of these receptors has also been detected in several nongonadal but reproduction-associated tissues of pig, human, and other species. There are no data about the ontogeny of the human LH/hCG ...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-2001-13907
更新日期:2001-01-01 00:00:00
abstract::Asoprisnil (J 867; benzaldehyde, 4-[(11beta, 17beta)-17-methoxy-17-(methoxymethyl)-3-oxoestra-4, 9-dien-11beta-yl]-, 1-oxime) is the prototype of a novel class 11beta-benzaldoxime-substituted selective progesterone receptor modulators (SPRMs) and the first-in-class SPRM to reach an advanced stage of clinical developme...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-2005-864034
更新日期:2005-02-01 00:00:00
abstract::Pregnancy results in major changes in the hypothalamo-pituitary-adrenal (HPA) axis, which in turn influence fetal growth and the timing of labor. From the beginning of the second trimester maternal cortisol secretion increases, and in late pregnancy the placenta, in large part mediated through corticotroph-releasing h...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-2002-36710
更新日期:2002-11-01 00:00:00
abstract::Subclinical hypothyroidism has been found to be associated with adverse reproductive outcomes, such as infertility, miscarriage, preterm birth, and complications of pregnancy. Multiple studies have investigated the relationships between thyroid function, thyroid antibodies, fertility, and pregnancy. Thyroid autoimmuni...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-0036-1593487
更新日期:2016-11-01 00:00:00
abstract::Follicular rupture and the transformation of an estrogenic preovulatory follicle into a highly vascularized corpus luteum capable of producing large quantities of progesterone are required for the establishment of pregnancy. These processes are dependent upon the precise remodeling of the ovarian extracellular matrix ...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-2006-948552
更新日期:2006-09-01 00:00:00
abstract::Chromosome abnormalities are extremely common in human oocytes and embryos and are associated with a variety of negative outcomes for both natural cycles and those using assisted conception techniques. Embryos containing the wrong number of chromosomes (aneuploidy) may fail to implant in the uterus, miscarry, or lead ...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-0032-1313908
更新日期:2012-08-01 00:00:00
abstract::Translocations involving the X and Y chromosomes are often associated with anomalies of gonadal development. Transfer of Yp sequences, including the testis-determining SRY gene, to the terminal portion of the short arm of the X chromosome is associated with 46,XX maleness and in rare cases 46,XX true hermaphroditism. ...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-2001-15393
更新日期:2001-06-01 00:00:00