scholarly journals Impact of gene polymorphisms of gonadotropins and their receptors on human reproductive success

Reproduction ◽  
2015 ◽  
Vol 150 (6) ◽  
pp. R175-R184 ◽  
Author(s):  
Livio Casarini ◽  
Daniele Santi ◽  
Marco Marino
Keyword(s):  
Natural Selection ◽  
Reproductive Success ◽  
Polycystic Ovary ◽  
Human Reproduction ◽  
Human Populations ◽  
Nucleotide Polymorphisms ◽  
Fertility Treatments ◽  
Reproductive Endocrine ◽  
Human Reproductive ◽  
The Individual

Gonadotropins and their receptors' genes carry several single-nucleotide polymorphisms resulting in endocrine genotypes modulating reproductive parameters, diseases, and lifespan leading to important implications for reproductive success and potential relevance during human evolution. Here we illustrate common genotypes of the gonadotropins and gonadotropin receptors' genes and their clinical implications in phenotypes relevant for reproduction such as ovarian cycle length, age of menopause, testosterone levels, polycystic ovary syndrome, and cancer. We then discuss their possible role in human reproduction and adaptation to the environment. Gonadotropins and their receptors' variants are differently distributed among human populations. Some hints suggest that they may be the result of natural selection that occurred in ancient times, increasing the individual chance of successful mating, pregnancy, and effective post-natal parental cares. The gender-related differences in the regulation of the reproductive endocrine systems imply that many of these genotypes may lead to sex-dependent effects, increasing the chance of mating and reproductive success in one sex at the expenses of the other sex. Also, we suggest that sexual conflicts within the FSH and LH–choriogonadotropin receptor genes contributed to maintain genotypes linked to subfertility among humans. Because the distribution of polymorphic markers results in a defined geographical pattern due to human migrations rather than natural selection, these polymorphisms may have had only a weak impact on reproductive success. On the contrary, such genotypes could acquire relevant consequences in the modern, developed societies in which parenthood attempts often occur at a later age, during a short, suboptimal reproductive window, making clinical fertility treatments necessary.

Adipokines in human reproduction

2015 ◽  
Vol 24 (1) ◽  
Author(s):  
Joëlle Dupont ◽  
Xavier Pollet-Villard ◽  
Maxime Reverchon ◽  
Namya Mellouk ◽  
Rachel Levy
Keyword(s):  
Polycystic Ovary ◽  
Critical Role ◽  
Reproductive Organs ◽  
Reproductive Age ◽  
Human Reproduction ◽  
Reproductive Disorders ◽  
Women Of Reproductive Age ◽  
Ovary Syndrome ◽  
Inflammatory Conditions ◽  
Human Reproductive

AbstractAdipose tissue communicates with other central and peripheral organs by the synthesis and release of substances called adipokines. The most studied adipokine is leptin but others have been recently identified including resistin, adiponectin, chemerin, omentin and visfatin. These adipokines have a critical role in the development of obesity-related complications and inflammatory conditions. However, they are also involved in other functions in the organism including reproductive functions. Indeed, many groups have demonstrated that adipokine receptors, such as adiponectin and chemerin, but also adipokines themselves (adiponectin, chemerin, resistin, visfatin and omentin) are expressed in human peripheral reproductive tissues and that these adipokines are likely to exert direct effects on these tissues. After a brief description of these new adipokines, an overview of their actions in different human reproductive organs (hypothalamus, pituitary, ovary, testis, uterus and placenta) will be presented. Finally, comments will be made on the eventual alterations of these adipokines in reproductive disorders, with special attention to polycystic ovary syndrome, a disease characterized by dysfunction of gonadal axis and systemic nerve endocrine metabolic network with a prevalence of up to 10% in women of reproductive age.

scholarly journals Genetic loci associated with coronary artery disease harbor evidence of selection and antagonistic pleiotropy

2016 ◽  
Author(s):  
Sean G. Byars ◽  
Qin Qin Huang ◽  
Lesley-Ann Gray ◽  
Samuli Ripatti ◽  
Gad Abraham ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Genetic Variation ◽  
Natural Selection ◽  
Coronary Artery ◽  
Positive Selection ◽  
Genetic Risk ◽  
Human Reproduction ◽  
Human Populations ◽  
Modern Humans ◽  
Artery Disease

AbstractTraditional genome-wide scans for positive selection have mainly uncovered selective sweeps associated with monogenic traits. While selection on quantitative traits is much more common, very few signals have been detected because of their polygenic nature. We searched for positive selection signals underlying coronary artery disease (CAD) in worldwide populations, using novel approaches to quantify relationships between polygenic selection signals and CAD genetic risk. We identified new candidate adaptive loci that appear to have been directly modified by disease pressures given their significant associations with CAD genetic risk. These candidates were all uniquely and consistently associated with many different male and female reproductive traits suggesting selection may have also targeted these because of their direct effects on fitness. This suggests the presence of widespread antagonistic-pleiotropic tradeoffs on CAD loci, which provides a novel explanation for the maintenance and high prevalence of CAD in modern humans. Lastly, we found that positive selection more often targeted CAD gene regulatory variants using HapMap3 lymphoblastoid cell lines, which further highlights the unique biological significance of candidate adaptive loci underlying CAD. Our study provides a novel approach for detecting selection on polygenic traits and evidence that modern human genomes have evolved in response to CAD-induced selection pressures and other early-life traits sharing pleiotropic links with CAD.Author SummaryHow genetic variation contributes to disease is complex, especially for those such as coronary artery disease (CAD) that develop over the lifetime of individuals. One of the fundamental questions about CAD — whose progression begins in young adults with arterial plaque accumulation leading to life-threatening outcomes later in life — is why natural selection has not removed or reduced this costly disease. It is the leading cause of death worldwide and has been present in human populations for thousands of years, implying considerable pressures that natural selection should have operated on. Our study provides new evidence that genes underlying CAD have recently been modified by natural selection and that these same genes uniquely and extensively contribute to human reproduction, which suggests that natural selection may have maintained genetic variation contributing to CAD because of its beneficial effects on fitness. This study provides novel evidence that CAD has been maintained in modern humans as a byproduct of the fitness advantages those genes provide early in human lifecycles.

scholarly journals Evolutionary approaches to autism- an overview and integration

2020 ◽  
Vol 13 (2) ◽  
Author(s):  
Annemie Ploeger ◽  
Frietson Galis
Keyword(s):  
Natural Selection ◽  
Reproductive Success ◽  
Neurodevelopmental Disorder ◽  
Developmental Perspective ◽  
Epistatic Interactions ◽  
High Intelligence ◽  
High Heritability ◽  
The Individual

Autism is a highly heritable neurodevelopmental disorder, which great- ly reduces reproductive success. The combination of high heritability and low re- productive success raises an evolutionary question: why was autism not eliminated  by natural selection? we review different perspectives on the evolution of autism  and propose an integration which emphasizes epistatic interactions between the ef- fects of genes during development. It is well-established that autism is a polygenic  disorder, and that the genes contributing to autism interact. If a disorder is poly- genic, it is likely that the genes underlying the disorder are also involved in traits  that are benefcial for the individual. For example, it is possible that genes involved in the development of autism are also involved in the development of intelligence. As intelligence is positively correlated with reproductive success, genes involved  in autism can possibly spread in the population. we propose that in most individu- als, the interactions between genes result in normal or high intelligence and the  absence of autism. However, in some unlucky situations, often in combination with spontaneous negative mutations, the interactions between genes can lead to the  development of autism (or other pathologies). Thus, the combination of high herita- bility and low reproductive success in autism can be explained from an evolution- ary developmental perspective that emphasizes the role of epistatic interactions in  polygenic disorders.

scholarly journals Urinary bisphenol A in women with polycystic ovary syndrome – a possible suppressive effect on steroidogenesis?

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Zora Lazúrová ◽  
Jana Figurová ◽  
Beáta Hubková ◽  
Jana Mašlanková ◽  
Ivica Lazúrová
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Bisphenol A ◽  
Steroid Hormones ◽  
Polycystic Ovary ◽  
Suppressive Effect ◽  
Human Reproduction ◽  
Control Group ◽  
Ovary Syndrome ◽  
Ovarian Steroidogenesis ◽  
The Relationship

Abstract Objectives There is a growing evidence indicating an impact of endocrine distrupting chemicals such as bisphenol A (BPA) on human reproduction. Its higher levels in serum or urine have been documented in women with polycystic ovary syndrome (PCOS), however the relationship to ovarian steroidogenesis remains unclear. Aim of the study was to compare urinary BPA (U-BPA) concentrations among PCOS women and control group. Second aim was to assess the relationship of U-BPA to ovarian steroidogenesis in the group with PCOS. Methods Eighty six Caucasian women (age 28.5 ± 5.1 years) diagnosed with PCOS and 32 controls of age 24.9 ± 4.4 years were included in the study. Fasting blood samples were analyzed for biochemical parameters and steroid hormones. U-BPA was measured in the morning urine sample using high pressure liquid chromatography. Results PCOS women had significantly higher U-BPA as compared with control group (p=0.0001). Those with high levels of U-BPA (U-BPA ≥2.14 ug/g creatinine) demonstrated higher serum insulin (p=0.029) and HOMA IR (p=0.037), lower serum estrone (p=0.05), estradiol (p=0.0126), FSH (p=0.0056), and FAI (p=0.0088), as compared with low-BPA group (U- BPA <2.14 ug/g creatinine). In PCOS women, U-BPA positively correlated with age (p=0.0026; R2=0.17), negatively with estradiol (p=0.0001, R2=0.5), testosterone (p=0.0078, R2=0.15), free-testosterone (p=0.0094, R2=0.12) and FAI (p=0.0003, R2=0.32), respectively. Conclusions PCOS women have significantly higher U-BPA concentrations than healthy controls. U-BPA positively correlates with age and negatively with ovarian steroid hormones suggesting a possible suppressive effect of bisphenol A on ovarian steroidogenesis.

scholarly journals Impact of rs2414096 polymorphism of CYP19 gene on susceptibility of polycystic ovary syndrome and hyperandrogenism in Kashmiri women

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Sairish Ashraf ◽  
Shayaq Ul Abeer Rasool ◽  
Mudasar Nabi ◽  
Mohd Ashraf Ganie ◽  
Shariq R. Masoodi ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Clinical Manifestations ◽  
Additive Model ◽  
Genotypic Frequency ◽  
Ovary Syndrome ◽  
Significant Difference ◽  
Cyp19 Gene ◽  
Reproductive Endocrine ◽  
The Impact

AbstractPolycystic ovary syndrome (PCOS) is the most common reproductive endocrine disorder in pre-menopausal women having complex pathophysiology. Several candidate genes have been shown to have association with PCOS. CYP19 gene encodes a key steroidogenic enzyme involved in conversion of androgens into estrogens. Previous studies have reported contradictory results with regard to association of SNP rs2414096 in CYP19 gene with PCOS and hyperandrogenism in different ethnic populations. Present study was aimed to investigate the impact of SNP rs2414096 polymorphism of CYP19 gene on susceptibility of PCOS and hyperandrogenism in Kashmiri women. Further we also studied the genotypic-phenotypic association for various clinical and biochemical parameters of this polymorphism. Case control study. 394 PCOS cases diagnosed on the basis of Rotterdam criteria and age matched 306 healthy women. We found a significant differences in genotypic frequency (χ2 = 18.91, p < 0.05) as well as allele frequency (OR 0.63, CI 0.51–0.78, χ2 = 17.66, p < 0.05) between PCOS women and controls. The genotype–phenotype correlation analysis showed a significant difference in FG score (p = 0.047) and alopecia (p = 0.045) between the three genotypes. Also, the androgen excess markers like DHEAS (p < 0.001), Androstenedione (p < 0.001), Testosterone (p < 0.001) and FAI (p = 0.005) were significantly elevated in GG genotype and showed a significant difference in additive model in PCOS women. rs2414096 polymorphism of CYP19 gene is associated with the risk of PCOS as well as with clinical and biochemical markers of hyperandrogenism, hence suggesting its role in clinical manifestations of PCOS in Kashmiri women.

‘Short-Spanned Living Creatures’: Evolutionary Perspectives in Rhoda Broughton’s Not Wisely, but Too Well (1867)

2021 ◽  
Author(s):  
James Aaron Green
Keyword(s):  
Natural Selection ◽  
Evolutionary Theory ◽  
Simple Structure ◽  
Charles Darwin ◽  
Origin Of Species ◽  
Charles Lyell ◽  
Crystal Palace ◽  
The Status ◽  
The Individual ◽  
Evolutionary Perspectives

Abstract In Geological Evidences of the Antiquity of Man (1863), Charles Lyell appraised the distinct contribution made by his protégé, Charles Darwin (On the Origin of Species (1859)), to evolutionary theory: ‘Progression … is not a necessary accompaniment of variation and natural selection [… Darwin’s theory accounts] equally well for what is called degradation, or a retrogressive movement towards a simple structure’. In Rhoda Broughton’s first novel, Not Wisely, but Too Well (1867), written contemporaneously with Lyell’s book, the Crystal Palace at Sydenham prompts precisely this sort of Darwinian ambivalence to progress; but whether British civilization ‘advance[s] or retreat[s]’, her narrator adds that this prophesized state ‘will not be in our days’ – its realization exceeds the single lifespan. This article argues that Not Wisely, but Too Well is attentive to the irreconcilability of Darwinism to the Victorian ‘idea of progress’: Broughton’s novel, distinctly from its peers, raises the retrogressive and nihilistic potentials of Darwin’s theory and purposes them to reflect on the status of the individual in mid-century Britain.

C1QTNF6 participates in the pathogenesis of PCOS by affecting the inflammatory response of granulosa cells

2021 ◽  
Author(s):  
Sisi Yan ◽  
Jinli Ding ◽  
Yi Zhang ◽  
Jiayu Wang ◽  
Sainan Zhang ◽  
...  
Keyword(s):  
Inflammatory Response ◽  
Mouse Models ◽  
Granulosa Cells ◽  
Polycystic Ovary ◽  
Serum Levels ◽  
Inflammatory Factors ◽  
Low Grade ◽  
Reactive Protein ◽  
Reproductive Endocrine ◽  
Factor Α

Abstract Polycystic ovary syndrome (PCOS) is a common reproductive endocrine disease. It has been reported that chronic low-grade inflammation might participate in its pathogenesis. C1q and TNF related 6 (C1QTNF6) is a newly identified adiponectin paralog associated with inflammation. The aim of the present study was to investigate the role of C1QTNF6 in the development of chronic inflammation in PCOS and the underlying molecular mechanism. After analyzing the expression of C1QTNF6 in the serum and granulosa cells (GCs) of PCOS patients and healthy controls, we verified the roles of C1QTNF6 in inflammation through dehydroepiandrosterone-induced PCOS mouse models and cell models of lipopolysaccharide (LPS)-induced inflammation. The results demonstrated that C1QTNF6 expression in the serum and GCs of patients with PCOS was significantly elevated compared with those of the controls, and similar results were observed in the serum and ovary of PCOS mouse models. In PCOS mice and C1QTNF6-overexpressing PCOS mice, serum levels of pro-inflammatory factors including C-reactive protein (CRP), interleukin 6 (IL6) and tumor necrosis factor-α (TNFα) were increased, while the opposite effects were observed when C1QTNF6 was downregulated in PCOS mice. Furthermore, C1QTNF6 overexpression upregulated the levels of TNFα, IL6, and CRP and activated the AKT/NF-κB pathway in LPS-treated KGN cells, whereas C1QTNF6 knockdown and BAY-117082 (an NF-κB inhibitor) treatment resulted in the opposite effects. Taken together, our results indicate that C1QTNF6 is involved in the pathogenesis of PCOS by affecting the inflammatory response via the AKT/NF-κB signaling pathway.

scholarly journals Sexual Interference Behaviors in Male Adult and Subadult Tibetan Macaques (Macaca thibetana)

Animals ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 663
Author(s):  
Kui-Hai Pang ◽  
Amanda K. Rowe ◽  
Lori K. Sheeran ◽  
Dong-Po Xia ◽  
Lixing Sun ◽  
...  
Keyword(s):  
Reproductive Success ◽  
Nonhuman Primate ◽  
Sampling Method ◽  
Mating Season ◽  
Macaca Thibetana ◽  
Subadult Male ◽  
Sexual Competition ◽  
Male Adult ◽  
Sexual Interference ◽  
The Individual

Male nonhuman primate sexual interference, which includes copulation interruption and copulation harassment, has been related to reproductive success, but its significance has been challenging to test. Copulation interruption results in the termination of a copulation before ejaculation, whereas copulation harassment does not. We conducted this study using the all-occurrence behavior sampling method on sexual interference behaviors of seven adult and four subadult male Tibetan macaques (Macaca thibetana) in mating and non-mating seasons at Mt. Huangshan, China, from August 2016 to May 2017. Our results showed that males’ individual proportion of copulation interruption and harassment was higher during the mating season than during the non-mating season. In addition, dominant males more often performed interruption, whereas subordinate males more often performed harassment. We found no difference in the individual proportion of copulation interruption or harassment between adult and subadult males. Adult and subadult males both directed copulation interruption and harassment more often toward the mating male than toward the mating female. Lastly, the post-ejaculation phase of copulation was shorter when copulation harassment occurred than when it did not. Our results suggest that sexual interference may be an important mating tactic that adult and subadult males use in male–male sexual competition.

scholarly journals Does natural selection favour taller stature among the tallest people on earth?

2015 ◽  
Vol 282 (1806) ◽  
pp. 20150211 ◽  
Author(s):  
Gert Stulp ◽  
Louise Barrett ◽  
Felix C. Tropf ◽  
Melinda Mills
Keyword(s):  
Natural Selection ◽  
Reproductive Success ◽  
The Netherlands ◽  
Child Survival ◽  
Average Height ◽  
Tall Stature ◽  
Age At First Birth ◽  
Number Of Children ◽  
The North ◽  
Rate Of Increase

The Dutch are the tallest people on earth. Over the last 200 years, they have grown 20 cm in height: a rapid rate of increase that points to environmental causes. This secular trend in height is echoed across all Western populations, but came to an end, or at least levelled off, much earlier than in The Netherlands. One possibility, then, is that natural selection acted congruently with these environmentally induced changes to further promote tall stature among the people of the lowlands. Using data from the LifeLines study, which follows a large sample of the population of the north of The Netherlands ( n = 94 516), we examined how height was related to measures of reproductive success (as a proxy for fitness). Across three decades (1935–1967), height was consistently related to reproductive output (number of children born and number of surviving children), favouring taller men and average height women. This was despite a later age at first birth for taller individuals. Furthermore, even in this low-mortality population, taller women experienced higher child survival, which contributed positively to their increased reproductive success. Thus, natural selection in addition to good environmental conditions may help explain why the Dutch are so tall.

Genetic polymorphisms of reproductive hormones and their receptors in assisted reproduction technology for patients with polycystic ovary syndrome

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Yulia A. Koloda ◽  
Yulia V. Denisova ◽  
Natalia M. Podzolkova
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Assisted Reproductive Technologies ◽  
Polycystic Ovary ◽  
Ovarian Response ◽  
Reproductive Technologies ◽  
Reproductive Hormones ◽  
Current Data ◽  
Nucleotide Polymorphisms ◽  
Ovary Syndrome ◽  
Art Programs

Abstract Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies in women of childbearing, which is defined by the accumulation of multiple, small fluid-filled ovarian cysts without the selection of a single dominant follicle. Most PCOS phenotypes are characterized by the absence of spontaneous ovulation, resistance toward ovulation inductors, the production of a large immature oocytes number, and the high prevalence of ovarian hyperstimulation syndrome, resulting in reduced assisted reproductive technologies (ART) programs effectiveness. The review analyses current data about the relationship between polymorphism genotypes of KISS genes, follicle stimulating hormone (FSH), luteinizing hormone (LH), anti-Müllerian hormone (AMH) and their receptors genes, gonadotropin-releasing hormone (GnRH), estrogen, and progesterone receptors genes, the PCOS risk and the features of ovarian response to stimulation during ART cycles. The use of single nucleotide polymorphisms (SNPs) as prognostic markers of ART programs outcomes would provide a personalized approach to the drugs and doses choice for ovarian stimulation and significantly increase the chance of pregnancy.

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