Understanding the genetics of human infertility

Sang, Qing; Ray, Pierre F.; Wang, Lei

doi:10.1126/science.adf7760

Cited by 57 publications

(22 citation statements)

References 97 publications

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“…Particularly, considering the pivotal role of the nervous system in regulating the endocrine system, 23 it remains unclear whether nervous system impairment is implicated in TCSinduced endocrine disruption and the underlying toxic mechanisms.…”

Section: ■ Introductionmentioning

confidence: 99%

“…However, significant knowledge gaps persist regarding the mechanisms of endocrine disruption induced by TCS at environmental concentration levels. Particularly, considering the pivotal role of the nervous system in regulating the endocrine system, it remains unclear whether nervous system impairment is implicated in TCS-induced endocrine disruption and the underlying toxic mechanisms.…”

Section: Introductionmentioning

confidence: 99%

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Insights into Triclosan-Induced Endocrine Disruption: Evidence from the National Health and Nutrition Examination Survey and Zebrafish Models

Li,

Xian,

Ren

et al. 2024

Environ. Health

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Triclosan (TCS) has garnered significant attention due to its widespread use and associated endocrine-disrupting effects. However, its impact on the neuroendocrine system and underlying mechanisms remain poorly understood. Here, we established correlations between TCS exposure and serum sex hormone levels in participants of the National Health and Nutrition Examination Survey (NHANES). Additionally, we investigated TCS's influence on the neuroendocrine system using adult zebrafish exposed to environmentally relevant concentrations of TCS (0.361−48.2 μg/L) for 21 days. Assessment of reproductive and neurotoxicity included histopathological examination and behavioral tests. Transcriptomics, proteomics analyses, and biochemical detection were employed to elucidate mechanisms underlying TCS-induced neuroendocrine disruption. Significant correlations were found between TCS exposure and estradiol, testosterone, and sex hormone-binding globulin levels in NHANES participants. In addition, TCS exposure inhibited ovary development and spermatogenesis in zebrafish. Transcriptomics and proteomics analysis revealed gender-specific key signaling and metabolism-related pathways implicated in TCS-induced reproductive toxicity. Moreover, TCS exposure induced nervous system impairment, as evidenced by histological changes and altered motor behavior, possibly associated with oxidative damage. Correlation analysis further highlighted the potential connection between endocrine system disruption and nervous system impairment following TCS exposure. Overall, this study provided evidence supporting TCS-induced endocrine disruption and offered insights into its underlying mechanisms.

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Section: ■ Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Insights into Triclosan-Induced Endocrine Disruption: Evidence from the National Health and Nutrition Examination Survey and Zebrafish Models

Li,

Xian,

Ren

et al. 2024

Environ. Health

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“…Infertility, as a significant issue in human reproductive health, affects approximately one-seventh of couples worldwide [1]. Changing lifestyle habits, environmental pollution, and psychological factors contribute to this growing trend.…”

Section: Introductionmentioning

confidence: 99%

Integrated Evaluation of Clinical Reproductive Potential Post Embryo Transfer Using Raman Metabolic Spectroscopy of Multistage Culture Medium

Zhang,

Jiao,

Liang

et al. 2024

Preprint

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Background Utilizing Raman spectroscopy detection technique for assessing the clinical pregnancy outcomes following in vitro fertilization-embryo transfer (IVF-ET). Methods A total of 76 couples took part in the research. During their infertility treatment, culture medium samples were collected from 76 embryos (40 pregnancy and 36 non-pregnancy) at both the D3 and D5 stages. In total, 747 Raman spectra were recorded from these samples. The statistical analysis results were evaluated using accuracy, precision, recall, F1-score, and Area Under the Curve(AUC) to assess the classification performance of the fusion analysis model. The biochemical analysis results involved comparing the significant differences in spectral signal intensities of embryo metabolites corresponding to different pregnancy outcomes. Results This study established a fusion analysis model based on Raman spectroscopy data for predicting the pregnancy potential of embryos. The combination model employing Hilbert-PCA, spectrogram concatenation fusion, and SVM achieved an accuracy of over 93%. Furthermore, the statistical analysis results indicated significant differences in Raman spectroscopy features obtained from culture medium samples of embryos with varying pregnancy potentials. Conclusions This study utilized non-invasive Raman spectroscopy technology to analyze the metabolic spectra of culture medium across multiple developmental stages. By establishing a fusion analysis model, high-precision prediction of embryo pregnancy potential was achieved. Trial registration: This study, with ethical review number 2021 − 384, was approved by the Institutional Review Board of Yuhuangding Hospital, affiliated with Qingdao University.

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“…Infertility is de ned as the failure to achieve pregnancy after 12 months of regular unprotected sexual intercourse [1]. Approximately 85% of infertile couples have an identi able cause: the most common causes are ovulatory dysfunction, male factor infertility and tubal disease,the remaining 15% of infertile couples suffer from "unexplained infertility " [2].A World Health Organization reported that about 17% of people experience infertility and infertility affects 1 in 6 people globally [3].…”

Section: Introductionmentioning

confidence: 99%

Rheumatoid Arthritis and Infertility:A Mendelian Randomisation Study

XIE,

ZHANG,

YIN

2024

Preprint

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Background: Numerous observational studies have found a higher risk of infertility in patients with rheumatoid arthritis（RA）, but the causal relationship is subject to inherent confounding bias in traditional retrospective studies, and the causal relationship between the two has not been definitively established. Methods: This paper analyzes the causal relationship between RA and infertility using two-sample MR. In this paper,we performed a bidirectional two-sample Mendelian randomization (MR) analysis to test for the causal association between RA and infertility using data from Independent single nucleotide polymorphisms(SNP) closely associated with RA were selected as instrumental variables from a genome-wide association meta-analysis including 14,361 patients with RA and 43,923 controls of European ancestry. The summary statistics of infertility were obtained from the Finnish Biobank, which included 6,481 cases and 68,969 controls in women and 680 cases and 73,479 controls in men. Inverse variance weighting was used as the main estimator, supplemented by MR-Egger, Weighted median. MR-PRESSO was used to remove biased SNPs, Cochran's Q test to and MR-Egger intercept analysis to detect heterogeneity and horizontal pleiotropy. Results: Individuals with higher genetic liability to RA were more likely to develop female infertility ([OR,1.04; 95%CI,1.01-1.07; p<0.05]).But,RA is not causally related to male infertility. Conclusions: We found that genetically predicted RA causes a higher risk of infertility in women, a risk that has existed since conception. However, in terms of genetic variation, there is no evidence that RA increases the risk of infertility in men. the damage to reproductive health from RA is greater in women than in men. Our findings help women of childbearing age with RA to intervene early before they are ready to conceive, with the expectation of improving conception rates and reducing the risk of infertility in women with RA.

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Understanding the genetics of human infertility

Cited by 57 publications

References 97 publications

Insights into Triclosan-Induced Endocrine Disruption: Evidence from the National Health and Nutrition Examination Survey and Zebrafish Models

Insights into Triclosan-Induced Endocrine Disruption: Evidence from the National Health and Nutrition Examination Survey and Zebrafish Models

Integrated Evaluation of Clinical Reproductive Potential Post Embryo Transfer Using Raman Metabolic Spectroscopy of Multistage Culture Medium

Rheumatoid Arthritis and Infertility:A Mendelian Randomisation Study

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