Comprehensive data on the relationship between KCNJ11 polymorphisms and gestational diabetes mellitus predisposition: a meta-analysis.

Purpose: The genetic aspect of gestational diabetes mellitus (GDM) is influenced by multiple causal genetic variants, each with different effect sizes. The KCNJ11 gene is particularly noteworthy as a potential contributor to the risk of GDM due to its role in regulating glucose-induced insulin secretion. To evaluate the association between KCNJ11 polymorphisms and GDM, a comprehensive meta-analysis was conducted to review the existing literature and quantitatively assess the correlation. Methods: A thorough search was performed on the PubMed, EMBASE, Scopus, and CNKI databases until December 25, 2023, using precise terms and keywords related to Gestational Diabetes, KCNJ11 gene, and polymorphism. Odds ratios and 95% confidence intervals were used to evaluate the relationships. The statistical analysis was conducted using Comprehensive Meta-Analysis software, and the Cochrane risk of bias assessment tool was used to determine bias presence. Results: The meta-analysis comprised 9 studies with 3108 GDM cases and 5374 controls for the rs5219 polymorphism, and 3 studies with 1209 GDM cases and 1438 controls for the rs5210 polymorphism. The pooled data indicated a noteworthy link between the rs5219 polymorphism and GDM globally and among various ethnic groups, notably in Caucasian and Asian populations. However, no substantial association was observed between the rs5210 polymorphism and GDM. Conclusions: Pooled data showed a correlation between the KCNJ11 rs5219 polymorphism and GDM susceptibility, but no association was found for the rs5210 polymorphism. Future research with larger sample sizes and more diverse populations is needed to improve result generalizability. Supplementary Information: The online version contains supplementary material available at 10.1007/s40200-024-01428-0.

A thorough analysis of data on the correlation between COL9A1 polymorphisms and the susceptibility to congenital talipes equinovarus: a meta-analysis.

BACKGROUND: Congenital talipes equinovarus (CTEV) is a prevalent pediatric deformity with a multifactorial etiology. The objective of this meta-analysis was to explore the association between genetic variations in COL9A1 and the susceptibility to CTEV. METHODS: A comprehensive analysis of pertinent literature released before November 15, 2023, in electronic bibliographic databases was carried out. The importance of the connection was clarified through odds ratios (ORs) with 95% confidence intervals (CIs), utilizing random or fixed-effects models depending on study heterogeneity. Statistical analysis was executed using Comprehensive Meta-Analysis software (Version 4.0). RESULTS: A total of eight case-control studies involving 833 CTEV patients and 1280 healthy individuals were included in the analysis. Among these, four studies investigated the rs1135056 variant, encompassing 432 CTEV cases and 603 controls; two studies examined the rs35470562 variant, with 189 CTEV cases and 378 controls; and two studies explored the rs592121 variant, including 212 CTEV cases and 299 controls. The results revealed a significant association between the rs1135056 and rs35470562 polymorphisms in the COL9A1 gene, suggesting an increased risk of CTEV in the overall population. Conversely, no such association was found for the rs592121 variant. CONCLUSION: Our findings reveal a substantial association between the genetic variants COL9A1 rs1135056 and rs35470562 and susceptibility to CTEV. Conversely, the variant rs592121 did not exhibit any corresponding link. However, the limitations imposed by the small study population have compromised the statistical reliability and generalizability of the results.

A comprehensive consolidation of data on the relationship between IRF6 polymorphisms and non-syndromic cleft lip/palate susceptibility: From 79 case-control studies.

BACKGROUND: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a prevalent craniofacial birth defect on a global scale. A number of candidate genes have been identified as having an impact on NSCL/P. However, the association between interferon regulatory factor 6 (IRF6) polymorphisms and NSCL/P has yielded inconsistent results, prompting the need for a meta-analysis to obtain more accurate estimates. METHODS: We conducted a thorough screening of all relevant articles published up until November 15, 2023, in online bibliographic databases. The statistical analysis of the collected data was performed using the Comprehensive Meta-Analysis (Version 4.0) software. RESULTS: A total of 79 case-control studies, comprising 14,003 cases and 19,905 controls, were included in our analysis. The combined data indicated that the IRF6 rs642961 and rs2235371 polymorphisms were associated with an increased risk of NSCL/P in the overall population. However, no significant association was found between the rs2013162 and rs2235375 polymorphisms and the risk of NSCL/P in the overall population. Furthermore, subgroup analyses revealed significant correlations between the IRF6 rs642961, rs2235371, and rs2235375 polymorphisms and the risk of NSCL/P based on ethnic background and country of origin. Nevertheless, the rs2013162 polymorphism plays a protective role in Caucasians and mixed populations. CONCLUSIONS: Our collective data indicates a significant association between the rs642961 and rs2235371 polymorphisms and the risk of NSCL/P in the overall population. The rs2235375 polymorphism could influence the susceptibility to NSCL/P based on ethnic background. Meanwhile, the rs2013162 polymorphism provides protective effects in Caucasian, mixed populations, and the Brazilian population.

Prediction of underweight, short stature, and microcephaly based on brain diffusion-weighted imaging sequence in neonates with stage.2 of hypoxic-ischemic encephalopathy: A follow-up study.

Background: Hypoxic-ischemic encephalopathy (HIE), caused due to reduced oxygenation and brain blood flow, occurs in 1-8 per 1000 live full-term births in developed countries and up to 26 per 1000 live in the developing world. The growth status of survivors of birth HIE has not been evaluated sufficiently. Objective: This study evaluated, the growth parameters (weight, height, and head circumference) of neonates with Sarnat stage.2 of HIE at 6, 10, and 12 months and its relationship with findings of neonatal brain diffusion-weighted imaging (DWI) sequence. Materials and Methods: Medical records and growth parameters of 35 neonates with gestational age > 34 wk who were admitted with stage.2 of HIE in Neonatal Intensive Care Unit of Shahid Sadoughi hospital, Yazd, Iran from March 2021-March 2022, and its relationship with neonatal brain DWI sequence finding was evaluated. Results: 15 girls and 20 boys with a mean birth weight of 2880.3 ± 221.8 gr were evaluated. Conventional magnetic resonance imaging and DWI were found to be abnormal in 6 (17.1%) and 18 neonates (51.4%). The most abnormal finding of DWI was high signal in basal ganglia/thalamus in 9 neonates (25.7%). Abnormal DWI is more frequent in neonates with seizures and low birth weight. Hospital stay days were more prolonged in neonates with abnormal DWI. Microcephaly at 12 months was more frequent in children with abnormal DWI. Conclusion: In survivors of moderate neonatal HIE, abnormal brain DWI sequence might predict inappropriate head growth, and need close medical and nutritional interventions for growth improvement.