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Genetic insights into the immunological basis of male infertility: a translational perspective 男性不育症的免疫学基础的遗传见解:翻译的观点。
F&S science Pub Date : 2025-05-01 DOI: 10.1016/j.xfss.2025.02.002
Yi Wang M.D. , Yanggang Hong M.D.
{"title":"Genetic insights into the immunological basis of male infertility: a translational perspective","authors":"Yi Wang M.D. ,&nbsp;Yanggang Hong M.D.","doi":"10.1016/j.xfss.2025.02.002","DOIUrl":"10.1016/j.xfss.2025.02.002","url":null,"abstract":"<div><h3>Objective</h3><div>To elaborate the causal relationships between specific immunocyte phenotypes and male infertility.</div></div><div><h3>Design</h3><div>Mendelian randomization using genome-wide association study data.</div></div><div><h3>Subjects</h3><div>Large cohorts of European ancestry.</div></div><div><h3>Exposure</h3><div>731 immunocyte phenotypes or male infertility.</div></div><div><h3>Main Outcomes Measures</h3><div>Genetic variants were used as instrumental variables to infer causality, minimizing confounding and bias. The causal associations were assessed using the inverse variance-weighted (IVW) method for primary analysis, and the findings were validated using MR-Egger, Weighted Median, Simple Mode, and Weighted Mode approaches. Additional sensitivity analyses were performed to validate the robustness of the findings.</div></div><div><h3>Results</h3><div>Our analysis identified significant causal associations between specific immunocyte phenotypes and male infertility. Phenotypes such as naive-mature B cell %lymphocyte (odds ratio [OR] = 1.257) and IgD− CD38dim %B cell (OR = 1.100) were positively associated with increased infertility risk, whereas phenotypes like CD39+ CD8br %T cell (OR = 0.856) and B cells activator of the TNF-α family receptor (BAFF-R) on transitional (OR = 0.833) were negatively associated, suggesting a protective effect. Additionally, reverse MR analysis revealed that male infertility might causally affect certain immunocyte phenotypes, including CD14- CD16+ monocyte %monocyte (OR = 1.049).</div></div><div><h3>Conclusion</h3><div>This study provides robust evidence for the causal role of specific immunocyte phenotypes in male infertility and highlights the bidirectional relationship between immune function and reproductive health. These findings provide new insights into the immunological factors contributing to male infertility and suggest potential biomarkers and therapeutic targets for future research and clinical interventions.</div></div>","PeriodicalId":73012,"journal":{"name":"F&S science","volume":"6 2","pages":"Pages 130-140"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143484940","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prioritization of potential drug targets in ovarian-related diseases: Mendelian randomization and colocalization analyses 卵巢相关疾病中潜在药物靶点的优先排序:孟德尔随机化和共定位分析
F&S science Pub Date : 2025-05-01 DOI: 10.1016/j.xfss.2025.02.003
Yanggang Hong M.D.
{"title":"Prioritization of potential drug targets in ovarian-related diseases: Mendelian randomization and colocalization analyses","authors":"Yanggang Hong M.D.","doi":"10.1016/j.xfss.2025.02.003","DOIUrl":"10.1016/j.xfss.2025.02.003","url":null,"abstract":"<div><h3>Objective</h3><div>To identify key genes and potential drug targets for ovarian-related diseases through genome-wide Mendelian randomization (MR) and colocalization analyses.</div></div><div><h3>Design</h3><div>We conducted a comprehensive two-sample MR analysis to estimate the causal effects of blood expression quantitative trait loci (eQTLs) on ovarian-related diseases, followed by colocalization analyses to verify the robustness of the expression instrumental variables (IVs). Phenome-wide association studies (PheWAS) were also performed to evaluate the horizontal pleiotropy of potential drug targets and possible side effects.</div></div><div><h3>Subjects</h3><div>Large cohorts of European ancestry.</div></div><div><h3>Exposure</h3><div>The exposure in this study was the genetic variants (eQTLs) associated with gene expression levels, considered a form of lifelong exposure. Expression quantitative trait loci data were obtained from the eQTLGen Consortium, encompassing 16,987 genes and 31,684 cis-eQTLs derived from blood samples of healthy individuals of European ancestry.</div></div><div><h3>Main Outcome Measures</h3><div>The primary outcome measures were the identification of genes causally associated with ovarian-related diseases and the validation of these genes as potential therapeutic targets.</div></div><div><h3>Results</h3><div>Our study revealed that specific genes such as CD163L1, PPP3CA, MTAP, F12, NRM, BANK1, ZNF66, GNA15, and SLC6A9 were associated with ovarian endometriosis, ovarian cysts, and polycystic ovarian syndrome. Through MR and colocalization analyses, we identified potential drug targets, including CTNNB1, PTPN7, and ABCB4, with strong evidence of colocalization with ovarian-related diseases. Sensitivity analyses confirmed the robustness of our findings, showing no evidence of horizontal pleiotropy or heterogeneity.</div></div><div><h3>Conclusion</h3><div>This research highlights the significance of precision medicine approaches in identifying genetic factors underlying ovarian-related diseases and provides a foundation for developing targeted therapies, enhancing diagnostic accuracy, and improving treatment strategies for ovarian-related diseases.</div></div>","PeriodicalId":73012,"journal":{"name":"F&S science","volume":"6 2","pages":"Pages 164-176"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143484944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Corrigendum to “From the Editor-in-Chief” (F S Sci 2025;6:1–3) “来自总编辑”的勘误表(F S Sci 2025;6:1-3)。
F&S science Pub Date : 2025-05-01 DOI: 10.1016/j.xfss.2025.02.005
{"title":"Corrigendum to “From the Editor-in-Chief” (F S Sci 2025;6:1–3)","authors":"","doi":"10.1016/j.xfss.2025.02.005","DOIUrl":"10.1016/j.xfss.2025.02.005","url":null,"abstract":"","PeriodicalId":73012,"journal":{"name":"F&S science","volume":"6 2","pages":"Page 261"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143702360","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
From the Editor-in-Chief 来自总编辑。
F&S science Pub Date : 2025-05-01 DOI: 10.1016/j.xfss.2025.04.001
William H. Catherino M.D., Ph.D.
{"title":"From the Editor-in-Chief","authors":"William H. Catherino M.D., Ph.D.","doi":"10.1016/j.xfss.2025.04.001","DOIUrl":"10.1016/j.xfss.2025.04.001","url":null,"abstract":"","PeriodicalId":73012,"journal":{"name":"F&S science","volume":"6 2","pages":"Page 117"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143797057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Direct assessment of hereditary hemochromatosis in preimplantation genetic testing 胚胎植入前基因检测对遗传性血色素沉着症的直接评估。
F&S science Pub Date : 2025-05-01 DOI: 10.1016/j.xfss.2024.12.003
Qinnan Zhang Ph.D., Maria Katz M.Sc., Benjamin Podgursky M.Sc., Nicholas Schuch B.S., Shenglai Li M.Sc., Noor Siddiqui M.Sc., Funda Suer Ph.D., Yuntao Xia Ph.D.
{"title":"Direct assessment of hereditary hemochromatosis in preimplantation genetic testing","authors":"Qinnan Zhang Ph.D.,&nbsp;Maria Katz M.Sc.,&nbsp;Benjamin Podgursky M.Sc.,&nbsp;Nicholas Schuch B.S.,&nbsp;Shenglai Li M.Sc.,&nbsp;Noor Siddiqui M.Sc.,&nbsp;Funda Suer Ph.D.,&nbsp;Yuntao Xia Ph.D.","doi":"10.1016/j.xfss.2024.12.003","DOIUrl":"10.1016/j.xfss.2024.12.003","url":null,"abstract":"<div><h3>Objective</h3><div>Hereditary hemochromatosis (HH) is a common genetic disorder characterized by iron overload, which, if undiagnosed, can lead to severe organ damage. There are 4 types of HH. Type 1 HH, the most common form, is primarily caused by a common variant in Western Europe (p.Cys282Tyr, C282Y, or c.845 G&gt;A). It is generally preventable during in vitro fertilization if proper genetic testing is performed before implantation. Here, we demonstrated a direct detection and cost-effective approach using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in preimplantation genetic testing (PGT) settings.</div></div><div><h3>Design</h3><div>We began by validating the assay with genomic deoxyribonucleic acid (DNA) from Coriell cell lines of known HFE C282Y genotypes, followed by testing patients’ genomic DNA samples. After establishing the assay on genomic DNA, we extended the assay to whole-genome amplified DNA from embryo biopsies.</div></div><div><h3>Subjects</h3><div>The subjects include cell line samples and human specimens and human embryo biopsies.</div></div><div><h3>Exposure</h3><div>Patients and embryos either carried or did not carry the HFE C282Y variant in their genome. No intervention was applied.</div></div><div><h3>Main Outcome Measures</h3><div>The readout included the genotype of samples at the HFE C282Y locus and accuracy of PCR-RFLP results.</div></div><div><h3>Results</h3><div>An accuracy of &gt;99% was achieved across 80 cell line samples, 38 patient samples, and 81 embryo biopsies.</div></div><div><h3>Conclusion</h3><div>In this study, we demonstrated the feasibility of using the PCR-RFLP approach to PGT. Specifically, we validated the assay for the HFE C282Y variant, the primary cause of type 1 hemochromatosis. The assay was tested on genomic DNA and DNA resulting from whole-genome amplification, achieving &gt;99% accuracy, sensitivity, precision, and specificity. These results also suggest the possibility for extending the PCR-RFLP approach to cover a broader range of conditions, such as spinal muscular atrophy, to benefit more patients currently ineligible for testing at PGT laboratories.</div></div>","PeriodicalId":73012,"journal":{"name":"F&S science","volume":"6 2","pages":"Pages 195-201"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142883745","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Stearoyl–coenzyme A desaturase enhances cell survival in human uterine leiomyoma 硬脂酰辅酶A去饱和酶提高人子宫平滑肌瘤细胞存活率。
F&S science Pub Date : 2025-05-01 DOI: 10.1016/j.xfss.2025.01.005
Allison S. Komorowski M.D., John S. Coon V M.S., Melania Anton B.S., Azna Zuberi Ph.D., Olivia Sotos B.S., Serdar E. Bulun M.D., Ping Yin M.D., Ph.D.
{"title":"Stearoyl–coenzyme A desaturase enhances cell survival in human uterine leiomyoma","authors":"Allison S. Komorowski M.D.,&nbsp;John S. Coon V M.S.,&nbsp;Melania Anton B.S.,&nbsp;Azna Zuberi Ph.D.,&nbsp;Olivia Sotos B.S.,&nbsp;Serdar E. Bulun M.D.,&nbsp;Ping Yin M.D., Ph.D.","doi":"10.1016/j.xfss.2025.01.005","DOIUrl":"10.1016/j.xfss.2025.01.005","url":null,"abstract":"<div><h3>Objective</h3><div>Stearoyl-CoA desaturase (SCD1) is an enzyme that catalyzes the conversion of saturated delta-9 fatty acids to monounsaturated fatty acids. SCD1 is highly expressed in various cancers and facilitates cancer cell survival, tumor growth, and metastasis. This study aimed to assess SCD1 expression and function in uterine leiomyoma and matched myometrial tissue and evaluate the impact of SCD1 inhibition on leiomyoma cell viability and apoptosis.</div></div><div><h3>Design</h3><div>Gene set enrichment analysis was performed to determine whether lipid metabolism pathways are dysregulated in leiomyoma. To assess the function of SCD1, primary leiomyoma and myometrial cells, as well as a CRISPR-engineered leiomyoma-relevant <em>MED12</em> mutant human uterine smooth muscle (UtSM) cell line, were treated with <em>SCD1</em> small interfering RNA or a small molecule inhibitor of SCD1, CAY10566. Cell viability and apoptosis assays, real-time quantitative polymerase chain reaction, and immunoblot analyses were performed to evaluate cell function in response to treatment.</div></div><div><h3>Subjects</h3><div>Leiomyoma and myometrial tissues were obtained from premenopausal individuals designated female at birth (n = 30) undergoing myomectomy or hysterectomy.</div></div><div><h3>Exposure</h3><div>SCD1 inhibition by small interfering RNA and CAY10566 treatment.</div></div><div><h3>Main Outcome Measures</h3><div>Messenger RNA (mRNA) and protein levels and cell viability and apoptosis.</div></div><div><h3>Results</h3><div>Gene set enrichment analysis revealed that the cholesterol homeostasis pathway was significantly different in leiomyoma vs. adjacent myometrial tissues. Among the genes in this pathway, SCD1 mRNA levels were found to be significantly higher in leiomyoma than in matched myometrium. SCD1 inhibition by small interfering RNA or CAY10566 decreased antiapoptotic BCL2 mRNA and protein levels and cell viability in primary leiomyoma but not myometrial cells. SCD1 protein levels were significantly higher in the mutant MED12 UtSM cell line than in the wild-type MED12 UtSM cell line. CAY10566 treatment specifically decreased cell viability and increased apoptosis in mutant MED12 UtSM cells, with increased protein levels of cleaved caspase 3, cleaved PARP, and DDIT3 in mutant MED12 UtSM but not in wild-type MED12 UtSM cells.</div></div><div><h3>Conclusion</h3><div>SCD1, an enzyme involved in lipid homeostasis, may play an important role in promoting leiomyoma growth and represents a novel target for the treatment of leiomyoma.</div></div>","PeriodicalId":73012,"journal":{"name":"F&S science","volume":"6 2","pages":"Pages 202-212"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143525345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Drug-free in vitro activation of ovarian follicles and fresh tissue autotransplantation in patients with poor ovarian response and premature ovarian insufficiency. 卵巢反应差和卵巢功能不全患者的无药体外激活卵泡和新鲜组织自体移植。
F&S science Pub Date : 2025-04-30 DOI: 10.1016/j.xfss.2025.04.002
Leonti Grin, Roza Berkovitz-Shperling, Gal Goldstein, Yulia Michailov, Ofer Gemer, Eyal Anteby, Kazuhiro Kawamura, Bozhena Saar-Ryss, Shevach Friedler
{"title":"Drug-free in vitro activation of ovarian follicles and fresh tissue autotransplantation in patients with poor ovarian response and premature ovarian insufficiency.","authors":"Leonti Grin, Roza Berkovitz-Shperling, Gal Goldstein, Yulia Michailov, Ofer Gemer, Eyal Anteby, Kazuhiro Kawamura, Bozhena Saar-Ryss, Shevach Friedler","doi":"10.1016/j.xfss.2025.04.002","DOIUrl":"10.1016/j.xfss.2025.04.002","url":null,"abstract":"<p><strong>Objective: </strong>To determine whether drug-free in vitro activation (IVA) with immediate autotransplantation improves reproductive outcomes and ovarian blood flow in patients with poor ovarian response (POR) and premature ovarian insufficiency (POI).</p><p><strong>Design: </strong>A clinical trial.</p><p><strong>Setting: </strong>A tertiary university-affiliated hospital.</p><p><strong>Patient(s): </strong>Twenty-one women diagnosed with POR (n = 7) and POI (n = 14).</p><p><strong>Intervention(s): </strong>Drug-free IVA through mechanical ovarian tissue disruption and immediate autotransplantation.</p><p><strong>Main outcome measure(s): </strong>Changes in antral follicle count, antimüllerian hormone levels, ovarian volume, Doppler indices, oocyte retrieval rates, and embryo cryopreservation.</p><p><strong>Result(s): </strong>After drug-free IVA, the antral follicle count increased in 71% of patients with POR and 50% of patients with POI, whereas the antimüllerian hormone levels improved in 57% of patients with POR and 7% of patients with POI. A significant increase in ovarian volume was noted in patients with POR and in patients with POI who exhibited follicle growth after IVA. Doppler indices revealed no significant changes in ovarian blood flow. Follicle development was achieved in all patients with POR and 10 of 14 patients with POI, facilitating successful oocyte retrieval in all patients with POR and 7 of 14 patients with POI. The fertilization rates were 72% and 59% for patients with POR and POI, respectively. All patients with POR and 5 of 14 patients with POI had at least 1 embryo cryopreserved. Among the 11 patients who underwent frozen embryo transfer, 2 clinical pregnancies were achieved, resulting in 1 live birth.</p><p><strong>Conclusion(s): </strong>Drug-free IVA demonstrates potential in improving follicular activity, oocyte retrieval, and embryo cryopreservation. However, clinical application remains challenging due to modest success rates, necessitating further protocol refinements and long-term outcome evaluations.</p><p><strong>Trial registration: </strong>ClinicalTrials.gov (Identifier: NCT04024722).</p>","PeriodicalId":73012,"journal":{"name":"F&S science","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043003","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Unveiling the molecular cross-talk between piwi-interacting RNAs and steroid 5 alpha reductase type 2 in sperm dysfunction. 揭示精子功能障碍中piwi相互作用rna与类固醇5 α还原酶2型之间的分子串扰。
F&S science Pub Date : 2025-04-29 DOI: 10.1016/j.xfss.2025.03.007
Adnan Fadhel Al-Azaawie, Ahmed AbdulJabbar Suleiman, Mousa Jasim Mohammed
{"title":"Unveiling the molecular cross-talk between piwi-interacting RNAs and steroid 5 alpha reductase type 2 in sperm dysfunction.","authors":"Adnan Fadhel Al-Azaawie, Ahmed AbdulJabbar Suleiman, Mousa Jasim Mohammed","doi":"10.1016/j.xfss.2025.03.007","DOIUrl":"https://doi.org/10.1016/j.xfss.2025.03.007","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the correlation between piwi-interacting RNA (piRNA) expression and steroid 5 alpha reductase type 2 (SRD5A2) mRNA regulation in seminal fluid across various male infertility conditions (asthenozoospermia, oligozoospermia, and azoospermia).</p><p><strong>Design and subjects: </strong>This study included 88 male participants aged 20-40 years, categorized into infertility and normozoospermic groups.</p><p><strong>Exposure: </strong>Seminal fluid analysis and RNA extraction were performed to quantify SRD5A2 mRNA and selected piRNAs (hsa-piR-002528, hsa-piR-017183, hsa-piR-023244, and hsa-piR-023338) using qRT-PCR.</p><p><strong>Main outcome measures: </strong>Correlation analysis evaluated interactions between piRNA levels and SRD5A2 expression. Statistical significance was determined using analysis of variance and correlation coefficients.</p><p><strong>Results: </strong>Seminal Fluid Analysis: significant differences in seminal volume, sperm morphology, count, and motility were observed across infertility subtypes. Steroid 5 alpha reductase type 2 Expression: asthenozoospermia showed up-regulated SRD5A2 mRNA (Log2FC = 0.333), whereas oligozoospermia and azoospermia exhibited down-regulation (Log2FC = -0.470 and -0.688, respectively). Piwi-interacting RNA Expression: hsa-piR-002528 and hsa-piR-017183 were up-regulated in all infertility subtypes, whereas hsa-piR-023244 and hsa-piR-023338 exhibited subtype-specific expression patterns. Correlation Analysis: Steroid 5 alpha reductase type 2 mRNA negatively correlated with hsa-piR-002528 and hsa-piR-023338, suggesting regulatory interactions affecting sperm motility and count. Positive correlations were observed for hsa-piR-023244 in azoospermia, indicating potential roles in supporting spermatogenesis.</p><p><strong>Conclusions: </strong>Altered piRNA profiles and SRD5A2 expression are associated with male infertility subtypes. These findings highlight the regulatory role of piRNAs in spermatogenesis and their potential as biomarkers and therapeutic targets for male infertility.</p>","PeriodicalId":73012,"journal":{"name":"F&S science","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144008843","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of CYP19A1 genetic variations on polycystic ovary syndrome: findings from a case-control study. CYP19A1基因变异对多囊卵巢综合征的影响:一项病例对照研究的结果
F&S science Pub Date : 2025-03-28 DOI: 10.1016/j.xfss.2025.03.005
Hiral Chaudhary, Jalpa Patel, Nayan K Jain, Sonal Panchal, Purvi Nanavati, Mala Singh, Naresh Laddha, Rushikesh Joshi
{"title":"Impact of CYP19A1 genetic variations on polycystic ovary syndrome: findings from a case-control study.","authors":"Hiral Chaudhary, Jalpa Patel, Nayan K Jain, Sonal Panchal, Purvi Nanavati, Mala Singh, Naresh Laddha, Rushikesh Joshi","doi":"10.1016/j.xfss.2025.03.005","DOIUrl":"10.1016/j.xfss.2025.03.005","url":null,"abstract":"<p><strong>Objective: </strong>To study the association between CYP19A1 genetic variants and the risk of developing polycystic ovary syndrome (PCOS). The study explored the relationship between the candidate gene CYP19A1 and hyperandrogenism, as well as its interplay with obesity, in PCOS patients compared with healthy controls.</p><p><strong>Design: </strong>A case-control study with genetic association analysis by tetra-primer amplification refractory mutation system polymerase chain reaction and biochemical analysis.</p><p><strong>Subjects: </strong>204 women (113 PCOS patients and 91 healthy controls) were included in the present study.</p><p><strong>Exposure: </strong>CYP19A1 variants (rs700519 and rs2236722) in PCOS women.</p><p><strong>Main outcome measures: </strong>Genotypic and allelic frequencies of CYP19A1 variants (rs2236722 and rs700519) and their impact on androgen metabolism and obesity markers.</p><p><strong>Results: </strong>The genotypic and allelic frequency of rs2236722 showed statistically significant differences between PCOS cases and controls. A significant association was observed under the dominant model, with an odds ratio of 0.34 (95% confidence interval, 0.16-0.66), as well as under the heterozygous model, where the odds ratio was 2.58 (95% confidence interval, 1.34-4.97). However, rs700519 did not reveal any significant association between the groups. A noticeable statistical difference was observed in the levels of total testosterone, dehydroepiandrosterone sulfate , prolactin, luteinizing hormone/follicle-stimulating hormone , Estradiol/total testosterone ratio, body mass index, and waist-to-hip ratio between the case and control groups . However, no variations in clinical variables were observed among genotypes within the PCOS group.</p><p><strong>Conclusion: </strong>Our study demonstrates that the CYP19A1 rs2236722 polymorphism significantly correlates with PCOS risk, although rs700519 showed no significant association. The findings suggest that altered aromatase activity linked to rs2236722 may contribute to the hyperandrogenic phenotype observed in PCOS patients. These results enhance our understanding of the genetic basis of PCOS and may have implications for personalized treatment approaches.</p>","PeriodicalId":73012,"journal":{"name":"F&S science","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143756247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The role of ethnicity and polycystic ovary syndrome on pregnancy complications: an analysis of a population database. 种族与多囊卵巢综合征对妊娠并发症的影响。人口数据库的分析。
F&S science Pub Date : 2025-03-27 DOI: 10.1016/j.xfss.2025.03.004
Magdalena Peeva, Ahmad Badeghiesh, Haitham Baghlaf, Michael H Dahan
{"title":"The role of ethnicity and polycystic ovary syndrome on pregnancy complications: an analysis of a population database.","authors":"Magdalena Peeva, Ahmad Badeghiesh, Haitham Baghlaf, Michael H Dahan","doi":"10.1016/j.xfss.2025.03.004","DOIUrl":"10.1016/j.xfss.2025.03.004","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;To determine the independent effect of ethnicity on obstetric outcomes in women with polycystic ovary syndrome (PCOS).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Design: &lt;/strong&gt;This was a retrospective, population-based cohort study using data from the Healthcare Cost and Utilization Project Nationwide Inpatient Sample from 2004 to 2014. Women with PCOS were identified using the International Classification of Diseases, Ninth Revision, Clinical Modification codes. Pregnancy, delivery, and neonatal outcomes were compared across ethnic groups. The chi-square tests assessed baseline characteristics, and logistic regression was used to evaluate associations between ethnicity and outcomes, estimating odds ratios (ORs) and 95% confidence intervals (CIs).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Subjects: &lt;/strong&gt;A total of 12,782 pregnant women with PCOS were identified between 2004 and 2014, categorized by ethnicity: White (n = 9,107); African American (n = 1,098); Hispanic (n = 1,288); and Asian (n = 741).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Exposure: &lt;/strong&gt;The exposure of interest was maternal ethnicity and its association with pregnancy, delivery, and neonatal outcomes among women with PCOS.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Main outcome measures: &lt;/strong&gt;Pregnancy, delivery, and neonatal complications were assessed across ethnic groups.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Asian women had a higher odds of having gestational diabetes (adjusted OR [aOR], 1.96; 95% CI, 1.49-2.58), chorioamnionitis (aOR, 3.41; 95% CI, 2.12-5.47), operative vaginal delivery (aOR, 2.42; 95% CI, 1.65-3.56), postpartum hemorrhage (PPH) (aOR, 2.07; 95% CI, 1.25-3.43), and maternal infection (aOR, 2.84; 95% CI, 1.80-4.49). African Americans had a higher risk of pregnancy-induced hypertension (aOR, 1.38; 95% CI, 1.06-1.80), preeclampsia (aOR, 1.68; 95% CI, 1.15-2.45), preterm premature rupture of membrane (aOR, 2.75; 95% CI, 1.58-4.78), chorioamnionitis (aOR, 1.83; 95% CI, 1.12-2.98), and cesarean sections (aOR, 1.69; 95% CI, 1.32-2.15) and lower risk of operative vaginal delivery (aOR, 0.53; 95% CI, 0.31-0.93), spontaneous vaginal delivery (aOR, 0.67; 95% CI, 0.52-0.85), and maternal infection (aOR, 1.91; 95% CI, 1.21-3.00). The risk of gestational diabetes (aOR, 1.36; 95% CI, 1.06-1.73) and PPH (aOR, 1.58; 95% CI, 1.01-2.47) increased among Hispanic patients. Caucasian patients were at lower risk of gestational diabetes (aOR, 0.67; 95% CI, 0.57-0.79), chorioamnionitis (aOR, 0.39; 95% CI, 0.28-0.55), cesarean section (aOR, 0.83; 95% CI, 0.73-0.95), PPH (aOR, 0.70; 95% CI, 0.50-0.98), blood transfusion (aOR, 0.49; 95% CI, 0.29-0.83), maternal infection (aOR, 0.34; 95% CI, 0.27-0.51), and small-for-gestational-age infants (aOR, 0.64; 95% CI, 0.44-0.93) and had higher odds of having a spontaneous vaginal delivery (aOR, 1.25; 95% CI, 1.10-1.43).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;Among women with PCOS, African Americans have the highest number of increased pregnancy complications, followed by Asians and Hispanics. Caucasians with PCOS have t","PeriodicalId":73012,"journal":{"name":"F&S science","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143744424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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