Association of CDKAL1 gene polymorphisms variations with gestational diabetes mellitus risk in women: A case-control study and meta-analysis

Abstract Background 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...

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Main Authors: Watson Ray Gyan, Hengli Zhang, Taotao Shao, Taili Yang, Yue Wei, Mianqin Li, Xiaoqun Che, Qiaoli Zeng, Runmin Guo
Format: Article
Language:English
Published: BMC 2025-05-01
Series:BMC Endocrine Disorders
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Online Access:https://doi.org/10.1186/s12902-025-01874-8
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author Watson Ray Gyan
Hengli Zhang
Taotao Shao
Taili Yang
Yue Wei
Mianqin Li
Xiaoqun Che
Qiaoli Zeng
Runmin Guo
author_facet Watson Ray Gyan
Hengli Zhang
Taotao Shao
Taili Yang
Yue Wei
Mianqin Li
Xiaoqun Che
Qiaoli Zeng
Runmin Guo
author_sort Watson Ray Gyan
collection DOAJ
description Abstract Background 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. Methods 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. Results 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). Conclusion 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.
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spelling doaj-art-0c69e18ae76f4bd181ed92c9a0be86532025-08-20T02:15:15ZengBMCBMC Endocrine Disorders1472-68232025-05-0125111210.1186/s12902-025-01874-8Association of CDKAL1 gene polymorphisms variations with gestational diabetes mellitus risk in women: A case-control study and meta-analysisWatson Ray Gyan0Hengli Zhang1Taotao Shao2Taili Yang3Yue Wei4Mianqin Li5Xiaoqun Che6Qiaoli Zeng7Runmin Guo8Department of Internal Medicine, Shunde Women and Children’s Hospital, Maternity and Child Healthcare Hospital of Shunde Foshan, Guangdong Medical UniversityDepartment of Internal Medicine, Shunde Women and Children’s Hospital, Maternity and Child Healthcare Hospital of Shunde Foshan, Guangdong Medical UniversityDepartment of Internal Medicine, Shunde Women and Children’s Hospital, Maternity and Child Healthcare Hospital of Shunde Foshan, Guangdong Medical UniversityMaternal and Child Research Institute, Shunde Women and Children’s Hospital, Maternity and Child Healthcare Hospital of Shunde Foshan, Guangdong Medical UniversityMaternal and Child Research Institute, Shunde Women and Children’s Hospital, Maternity and Child Healthcare Hospital of Shunde Foshan, Guangdong Medical UniversityDepartment of Ultrasound, Shunde Women and Children’s Hospital, Maternity and Child Healthcare Hospital of Shunde Foshan, Guangdong Medical UniversityDepartment of Obstetric, Shunde Women and Children’s Hospital, Maternity and Child Healthcare Hospital of Shunde Foshan, Guangdong Medical UniversityDepartment of Internal Medicine, Shunde Women and Children’s Hospital, Maternity and Child Healthcare Hospital of Shunde Foshan, Guangdong Medical UniversityDepartment of Internal Medicine, Shunde Women and Children’s Hospital, Maternity and Child Healthcare Hospital of Shunde Foshan, Guangdong Medical UniversityAbstract Background 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. Methods 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. Results 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). Conclusion 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.https://doi.org/10.1186/s12902-025-01874-8Case-control studyCDKAL1 geneGenetic associationGenetic risk factorsGestational diabetes mellitus (GDM)Single nucleotide polymorphisms (SNP)
spellingShingle Watson Ray Gyan
Hengli Zhang
Taotao Shao
Taili Yang
Yue Wei
Mianqin Li
Xiaoqun Che
Qiaoli Zeng
Runmin Guo
Association of CDKAL1 gene polymorphisms variations with gestational diabetes mellitus risk in women: A case-control study and meta-analysis
BMC Endocrine Disorders
Case-control study
CDKAL1 gene
Genetic association
Genetic risk factors
Gestational diabetes mellitus (GDM)
Single nucleotide polymorphisms (SNP)
title Association of CDKAL1 gene polymorphisms variations with gestational diabetes mellitus risk in women: A case-control study and meta-analysis
title_full Association of CDKAL1 gene polymorphisms variations with gestational diabetes mellitus risk in women: A case-control study and meta-analysis
title_fullStr Association of CDKAL1 gene polymorphisms variations with gestational diabetes mellitus risk in women: A case-control study and meta-analysis
title_full_unstemmed Association of CDKAL1 gene polymorphisms variations with gestational diabetes mellitus risk in women: A case-control study and meta-analysis
title_short Association of CDKAL1 gene polymorphisms variations with gestational diabetes mellitus risk in women: A case-control study and meta-analysis
title_sort association of cdkal1 gene polymorphisms variations with gestational diabetes mellitus risk in women a case control study and meta analysis
topic Case-control study
CDKAL1 gene
Genetic association
Genetic risk factors
Gestational diabetes mellitus (GDM)
Single nucleotide polymorphisms (SNP)
url https://doi.org/10.1186/s12902-025-01874-8
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