BMC Endocrine Disorders最新文献

{"title":"Associations between pathological features and radioactive iodine-refractory recurrent papillary thyroid carcinoma: with mutation analysis using recurrent samples.","authors":"Thi Nhung Nguyen, Zhanna Mussazhanova, Hirokazu Kurohama, Van Dong Hoang, Ngoc Ha Le, Thi Minh Hanh Ngo, Van Phu Thang Nguyen, Katsuya Matsuda, Yuki Matsuoka, Katsiaryna Tratsiakova, Thi Ngoc Anh Nguyen, Yerkezhan Sailaubekova, Thi Phuong Nguyen, Minh Son Le, Masahiro Nakashima","doi":"10.1186/s12902-025-01954-9","DOIUrl":"10.1186/s12902-025-01954-9","url":null,"abstract":"<p><strong>Background: </strong>Although papillary thyroid carcinomas (PTC) are usually indolent in nature and clinically controllable, two-thirds of metastatic diseases become radioactive iodine-refractory (RAI-R). This study aimed to determine the role of pathological features, BRAF^V600E, TERT promoter (TERT-p), and their combinations on Vietnamese patients with RAI-R recurrent PTC.</p><p><strong>Methods: </strong>This cross-sectional study included 174 cases of locoregional recurrent PTC, including 135 and 39 RAI-R and RAI-avid (RAI-A) cases, respectively. Logistic regression analyses were used to evaluate the associations between pathological features, mutations, and RAI-R with tissues from recurrent lesions.</p><p><strong>Results: </strong>Loss of polarity/loss of cell cohesiveness (LOP/LCC) component was exclusively observed in recurrent cancers in the RAI-R group. RAI-R was associated with BRAF^V600E mutation, TERT-p mutation, BRAF^V600E/TERT-p single mutant (Smut), BRAF^V600E/TERT-p double mutant (Dmut), tall cell component, and mitosis ≥ 2/2 mm² in the unadjusted logistic regression analysis. Multivariable logistic regression analysis revealed that BRAF^V600E mutation and Dmut were independent predictors of RAI-R. The presence of Dmut (odds ratio [OR] = 6.64) was more significantly associated with RAI-R compared with that of Smut (OR = 2.75). There was a marginal association between tall cell > 5%, mitosis count ≥ 2/2 mm² and RAI-R. The combination of BRAF^V600E/tall cell components was the strongest predictor of RAI-R.</p><p><strong>Conclusions: </strong>RAI-R PTC cases were independently associated with BRAF^V600E, Dmut. The association between Dmut and RAI-R PTC was stronger than that between Smut and RAI-R PTC. Future studies should focus on elucidating the role of mitotic count and LOP/LCC in RAI-R PTC.</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":"25 1","pages":"134"},"PeriodicalIF":2.8,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12090457/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144109705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predictive value of growth hormone and insulin-like growth factor-1 axis for gestational diabetes mellitus: a prospective cohort study.","authors":"Lingling Cui, Yibo Wang, Zhiqian Li, Xiaoli Yang, Huijun Zhou, Zhengya Zhang, Yuting Gao, Linpu Ji, Ruijie Sun, Luying Qin","doi":"10.1186/s12902-025-01953-w","DOIUrl":"10.1186/s12902-025-01953-w","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to explore the role of growth hormone/insulin-like growth factor-1 risk factor axis in gestational diabetes mellitus, as well as to rank independently risk factors.</p><p><strong>Methods: </strong>This was a prospective cohort study conducted between April 2019 and April 2022. The baseline data and serum samples were collected and analyzed from 241 pregnant women during the second trimester. Logistic regression and restricted cubic spline analyses were conducted to assess the relationship between GH and IGF-1 correlated with risk of GDM. Back-propagation artificial neural network (BPNN) and Receiver operating characteristic (ROC) curve analysis were performed to identify the predictive ability of the GH/IGF-1 axis for GDM.</p><p><strong>Results: </strong>The present study found that the higher serum levels of IGF-1 and the lower serum levels of GH in pregnant women were significantly correlated with risk of GDM. GH and IGF-1 were different in both case and control groups(P < 0.05). BPNN analysis identified IGF-1 as accounting for the highest proportion in the ranking of GDM risk prediction weights (up to 25.4%). Furthermore, the area under ROC curve (AUC) value of the GH and IGF-1 combinations reached 0.770 (95%CI:0.707, 0.83).</p><p><strong>Conclusions: </strong>GH (growth hormone) and IGF-1 (insulin-like growth factor 1) are intricately linked to the development of gestational diabetes mellitus (GDM). Disruptions in the GH/IGF-1 axis can trigger insulin resistance, thereby elevating the risk of GDM.</p><p><strong>Trial registration: </strong>Current Controlled Trials: ChiCTR2000028811. Registration Date:20,200,104.</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":"25 1","pages":"132"},"PeriodicalIF":2.8,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12087125/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101346","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: Insular thyroid carcinoma: epidemiological pattern, factors contributing to recurrence and distant metastasis.","authors":"Omar Hamdy, Shadi Awny, Mohamed H Sous, Mohamed A Abdelfattah, Ahmed E Eladl, Amr F Elalfy","doi":"10.1186/s12902-025-01956-7","DOIUrl":"10.1186/s12902-025-01956-7","url":null,"abstract":"","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":"25 1","pages":"133"},"PeriodicalIF":2.8,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12087184/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expression and clinical significance of LncRNA Kcnq1ot1 in type 2 diabetes mellitus patients with osteoarthritis.","authors":"Hai Hu, Can Zhou, Binbin Jiang, Song Wu, Ting Cai, Jie Yu, Liguo Zhu, Biao Zhou","doi":"10.1186/s12902-025-01915-2","DOIUrl":"10.1186/s12902-025-01915-2","url":null,"abstract":"<p><strong>Objective: </strong>We aimed to investigate the expression of lncRNA Kcnq1ot1 in T2DM patients with OA, as well as its correlation with serum inflammatory factors and clinical outcomes of the patients.</p><p><strong>Methods: </strong>This prospective observational cohort study included a total of 50 patients with type 2 diabetes mellitus (T2DM), 50 patients with osteoarthritis (OA), and 51 patients with both T2DM and OA between March 2020 and March 2023. The serum TNF-α, interleukin (IL)-6, IL-1β and C-reactive protein (CRP) levels were measured using enzyme-linked immunosorbent assay (ELISA). To determine the expression of LncRNA Kcnq1ot1, RT-qPCR was used. Demographic, clinical statistics, lipid metabolism and nutritional indicators were collected. All data used SPSS 26.0 to statistical analyses.</p><p><strong>Results: </strong>The T2DM + OA group had significantly higher BMI and LDLC levels compared to the T2DM group (p < 0.05). The serum levels of LncRNA Kcnq1ot1 were significantly higher in the T2DM + OA group compared to the OA group and T2DM group (p < 0.05). Pearson's analysis supported a positive correlation between LncRNA Kcnq1ot1 and IL-6 and IL-1β levels. In addition, LncRNA Kcnq1ot1 could be a potential biomarker for diagnosing the occurrence of T2DM patients with OA. Moreover, LncRNA Kcnq1ot1, BMI, IL-6, Low density lipoprotein cholesterol (LDLC) were the risk factors for T2DM patients with OA.</p><p><strong>Conclusion: </strong>This study showed that the serum LncRNA Kcnq1ot1 levels was remarkably elevated in T2DM patients with OA. This study might provide new targets and a comprehensive approach to treatment in T2DM patients with OA.</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":"25 1","pages":"131"},"PeriodicalIF":2.8,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12082958/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144085874","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of intermittent fasting on obesity and metabolic indices in patients with metabolic syndrome: a systematic review and meta analysis.","authors":"Shengxuan Zhang, Bixuan Sun, Lei Sun, Shijian Zou, Qilan Chen","doi":"10.1186/s12902-025-01952-x","DOIUrl":"10.1186/s12902-025-01952-x","url":null,"abstract":"<p><strong>Objective: </strong>Dietary patterns play a vital role in the health management of individuals with metabolic syndrome. Many recent studies have shown that intermittent fasting (IF) has better effects, such as improving obesity. Nevertheless, it warrants further investigation to determine which approach is more effective in comparison to continuous energy restriction (CR), particularly when total calorie intake shows minimal variation. Consequently, it is crucial to evaluate the degree of enhancement of the two dietary patterns concerning different aspects of metabolic syndrome. This study presents a meta-analysis of randomized controlled trials (RCTs) aimed at comparing the impacts of IF and CR on obesity and glucolipid metabolism in individuals diagnosed with metabolic syndrome.</p><p><strong>Methods: </strong>In August 2024, a thorough examination of English-language literature was performed across the PubMed, Medline, Embase, and Cochrane Library databases. The meta-analyses was performed according to the established guidelines and reported the results. Weight change, Body Mass Index (BMI) change, and triglyceride (TG) level change were designated as key assessment indicators, while blood pressure, blood glucose, hip circumference, and waist circumference served as supplementary indicators for comparative analysis.</p><p><strong>Result: </strong>A total of nine studies involving 626 patients were analyzed, focusing on the influence of dietary patterns on obesity, cholesterol levels, and insulin resistance among individuals diagnosed with metabolic syndrome. Both dietary patterns were beneficial for patients with metabolic syndrome. However, IF was better than CRin terms of improvement in obesity over the trial period (mean -1.77, 95% CI [-3.06, -0.48]), and it was more conducive to a reduction in TG levels, which was beneficial in terms of improving insulin resistance (mean -10.16, 95% CI [-18.88, -1.45]).</p><p><strong>Conclusion: </strong>Given its notable advantages for obesity, lipids, and insulin resistance, along with improved patient adherence, IF may be regarded as a more effective dietary approach for individuals with metabolic syndrome. Nonetheless, the long-term effectiveness still necessitates additional validation.</p><p><strong>Prospero registration: </strong>CRD42024587335.</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":"25 1","pages":"130"},"PeriodicalIF":2.8,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12076832/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144076082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Explainable predictive models of short stature and exploration of related environmental growth factors: a case-control study.","authors":"Jiani Liu, Xin Zhang, Wei Li, Francis Manyori Bigambo, Dandan Wang, Xu Wang, Beibei Teng","doi":"10.1186/s12902-025-01936-x","DOIUrl":"10.1186/s12902-025-01936-x","url":null,"abstract":"<p><strong>Background: </strong>Short stature is a prevalent pediatric endocrine disorder for which early detection and prediction are pivotal for improving treatment outcomes. However, existing diagnostic criteria often lack the necessary sensitivity and specificity because of the complex etiology of the disorder. Hence, this study aims to employ machine learning techniques to develop an interpretable predictive model for normal-variant short stature and to explore how growth environments influence its development.</p><p><strong>Methods: </strong>We conducted a case‒control study including 100 patients with normal-variant short stature who were age-matched with 200 normal controls from the Endocrinology Department of Nanjing Children's Hospital from April to September 2021. Parental surveys were conducted to gather information on the children involved. We assessed 33 readily accessible medical characteristics and utilized conditional logistic regression to explore how growth environments influence the onset of normal-variant short stature. Additionally, we evaluated the performance of the nine machine learning algorithms to determine the optimal model. The Shapley additive explanation (SHAP) method was subsequently employed to prioritize factor importance and refine the final model.</p><p><strong>Results: </strong>In the multivariate logistic regression analysis, children's weight (OR = 0.92, 95% CI: 0.86, 0.99), maternal height (OR = 0.79, 95% CI: 0.72, 0.87), paternal height (OR = 0.83, 95% CI: 0.75, 0.91), sufficient nighttime sleep duration (OR = 0.48, 95% CI: 0.26, 0.89), and outdoor activity time exceeding three hours (OR = 0.02, 95% CI: 0.00, 0.66) were identified as protective factors for normal-variant short stature. This study revealed that parental height, caregiver education, and children's weight significantly influenced the prediction of normal-variant short stature risk, and both the random forest model and gradient boosting machine model exhibited the best discriminatory ability among the 9 machine learning models.</p><p><strong>Conclusions: </strong>This study revealed a close correlation between environmental growth factors and the occurrence of normal-variant short stature, particularly anthropometric characteristics. The random forest model and gradient boosting machine model performed exceptionally well, demonstrating their potential for clinical applications. These findings provide theoretical support for clinical identification and preventive measures for short stature.</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":"25 1","pages":"129"},"PeriodicalIF":2.8,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12067680/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143978074","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retraction Note: PIWIL2 restrains the progression of thyroid cancer via interaction with miR-146a-3p.","authors":"Xiaoxiao Lu, Qingyun Zhu, Hong Du, Mingjun Gu, Xiangqi Li","doi":"10.1186/s12902-025-01950-z","DOIUrl":"10.1186/s12902-025-01950-z","url":null,"abstract":"","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":"25 1","pages":"127"},"PeriodicalIF":2.8,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12067664/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144062215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unusual nodular goiter with recurrent laryngeal nerve palsy due to severe degeneration caused by intense chronic inflammation: a case report with histopathological evidence and review of the literature.","authors":"Ryo Takagi, Kosei Mori, Sayumi Tsuyuguchi, Takashi Koike, Dinh Nam Nguyen, Kengo Kanai, Yoshihiro Watanabe, Mitsuhiro Okano, Yoshihiro Noguchi, Yuichiro Hayashi, Yorihisa Imanishi","doi":"10.1186/s12902-025-01929-w","DOIUrl":"10.1186/s12902-025-01929-w","url":null,"abstract":"<p><strong>Background: </strong>Thyroid tumors presenting with recurrent laryngeal nerve (RLN) palsy are generally considered malignant; however, RLN palsy has been reported even in benign thyroid disease (BTD), mainly due to compression or stretching, although seemingly quite rare. Herein, we report an unusual case of nodular goiter that was extremely difficult to differentiate preoperatively from thyroid malignancy because of the concomitant ipsilateral RLN palsy caused by chronic inflammation.</p><p><strong>Case presentation: </strong>A 59-year-old Japanese female presented with hoarseness and pharyngeal discomfort. Endoscopic examination revealed fixation of the right vocal cord, presumably due to right RLN palsy. Ultrasonography and computed tomography showed an ill-defined thyroid mass lesion in the right lobe, strongly suggestive of malignancy, although repeated aspiration cytology revealed no suspicion of malignancy. Intraoperatively, because the right RLN was found to be entirely embedded within the hard mass lesion and completely unresponsive to nerve integrity monitoring, the nerve was unavoidably excised along with the right lobe. Histopathology led to the final diagnosis of nodular goiter, wherein the resected RLN was severely degenerated and disrupted due to intense chronic inflammation accompanied by perineural fibrosis.</p><p><strong>Conclusions: </strong>Our literature review suggests that RLN palsy associated with thyroid mass lesions should not be considered a definitive indicator of malignancy because it can also be observed in BTD, although it is significantly less frequent than in malignancy as corroborated by our meta-analysis. Even in BTD, if the primary cause of the coexisting RLN palsy is severe chronic inflammation, nerve preservation is potentially unfeasible.</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":"25 1","pages":"128"},"PeriodicalIF":2.8,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12067666/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143969259","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of the C-reactive protein-triglyceride glucose index in predicting the risk of new-onset diabetes in the general population aged 45 years and older: a national prospective cohort study.","authors":"Yingqi Shan, Qingyang Liu, Tianshu Gao","doi":"10.1186/s12902-025-01947-8","DOIUrl":"https://doi.org/10.1186/s12902-025-01947-8","url":null,"abstract":"<p><strong>Objective: </strong>Triglyceride-to-glucose index (TyG index) and inflammation are both independent risk factors for diabetes. However, only a few studies have combined TyG index with inflammation indices to predict diabetes risk. C-reactive protein-triglyceride-to-glucose index (CTI index), as a new type of lipid and inflammation marker, can comprehensively assess the severity of insulin resistance and inflammation. This study explores the association between CTI index and diabetes risk.</p><p><strong>Methods: </strong>We recruited a total of 6,728 participants from the China Health and Retirement Longitudinal Study (CHARLS) who had no history of diabetes at baseline. After determining the key predictors using the least absolute shrinkage and selection operator (LASSO) technique, the relationship between the CTI index and the risk of new-onset diabetes was assessed using multivariate COX regression, the mediating effect between insulin resistance and inflammatory indicators was explored, and restricted cubic splines (RCS) were applied to explore the association between the CTI index and the risk of new-onset diabetes. In addition, we used decision tree analysis to identify people at high risk of diabetes, calculated time-dependent Harrell's C index (95% CI) to assess the predictive ability of TyG, CRP, CTI and CRP + TyG for new-onset diabetes, and further calculated IDI and NRI to assess the predictive ability of CTI and TyG. Finally, we performed subgroup analyses for different subgroups using stratified COX proportional hazard regression models; and a series of sensitivity analyses were performed to verify the robustness of our results.</p><p><strong>Results: </strong>The incidence of diabetes was 15.9% during the 9-year follow-up. COX regression analysis showed that the risk ratio for diabetes increased gradually with an increase in the CTI index. The RCS curve confirmed the existence of a linear relationship between the CTI index and the risk of diabetes. Decision tree analysis showed that the CTI index was a key indicator of diabetes risk. In addition, the CTI index is a much better predictor of the onset of diabetes risk than the TyG index, as demonstrated by the integrated discrimination improvement (IDI) and net reclassification improvement (NRI).</p><p><strong>Conclusion: </strong>An increase in CTI levels is closely related to diabetes risk, and the CTI index may become a unique predictor of diabetes risk.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":"25 1","pages":"126"},"PeriodicalIF":2.8,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12063391/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143954051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of CDKAL1 gene polymorphisms variations with gestational diabetes mellitus risk in women: A case-control study and meta-analysis.","authors":"Watson Ray Gyan, Hengli Zhang, Taotao Shao, Taili Yang, Yue Wei, Mianqin Li, Xiaoqun Che, Qiaoli Zeng, Runmin Guo","doi":"10.1186/s12902-025-01874-8","DOIUrl":"10.1186/s12902-025-01874-8","url":null,"abstract":"<p><strong>Background: </strong>Gestational diabetes mellitus (GDM) has seen a significant rise and has become a growing concern worldwide, especially in Asian populations. Genetic factors, such as variations in the CDKAL1 gene, have been linked to its development. However, existing research on this connection is limited and inconclusive, highlighting the need for further investigation. This study aims to explore the association between CDKAL1 gene polymorphisms and GDM risk in a Chinese population using a comprehensive case-control study and meta-analysis.</p><p><strong>Methods: </strong>The SNPscan™ genotyping assay was used to genotype rs7754840 and rs7756992, in 502 control participants and 500 GDM patients. ANOVA, T-test, chi-square test, logistic regression, and other statistical tests were used to determine the differences in genotypes and alleles and their associations to the risk of GDM. Additionally, a meta-analysis of existing studies on CDKAL1 polymorphisms and GDM was performed to provide a broader context and resolve inconsistencies in the literature.</p><p><strong>Results: </strong>The GDM group had a significantly older average mean age and higher blood pressure, and fasting plasma glucose levels than the control group (P < 0.05). CDKAL1 rs7754840 showed significant associations under codominant homozygous model (CC vs. GG: OR = 1.748; 95% CI: 1.178-2.593; P = 0.006). After adjusting, these results indicated an association between CDKAL1 rs7754840 and increased risk of GDM in the codominant model (OR = 1.715; 95% CI: 1.133-2.595; P = 0.011). However, further analysis revealed no significant associations under all genetic models for CDKAL1 rs7756992. The study found that individuals under 30 with the rs7754840 CC genotype had higher fasting glucose and postprandial glucose levels (P < 0.05) compared to those with the GG genotype. Figure 3 A demonstrated a modest association between the CDKAL1 and GDM susceptibility (OR 1.16, 95% CI 1.104-1.29, P = 0.0258).</p><p><strong>Conclusion: </strong>Individuals with the CDKAL1 rs7754840 polymorphism was associated to an increased risk of GDM, whereas rs7756992 did not show significant association with GDM risk. These results provide a theoretical foundation for GDM testing to mitigate its associated complications by enhancing our ability to predict, prevent and manage GDM. Ultimately improving outcomes for both mothers and their children. This research contributes to the growing evidence of genetic predisposition to GDM and highlights the importance of CDKAL1 as a potential genetic marker for GDM risk assessment.</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":"25 1","pages":"125"},"PeriodicalIF":2.8,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12060556/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143963566","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}