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.

Jaberi-Elahi Syndrome: Exploring a Novel GTPBP2 Mutation and a Literature Review.

Jaberi-Elahi syndrome is an extremely rare genetic disease caused by pathogenic variants in GTPBP2. The core symptoms of this disease are intellectual disability, motor development delay, abnormal reflexes, skeletal abnormalities, and visual impairment. In this study, we describe a three-year-old girl with a novel homozygous variant in GTPBP2 and a phenotype overlapping with Jaberi-Elahi syndrome. This variant (NM_019096.5:c.1289T>C, p.Leu430Pro) was identified by Whole Exome Sequencing and confirmed by Sanger sequencing although remains classified as VUS based on ACMG criteria. The proband demonstrated motor and intellectual developmental delay, muscle weakness, language disorder, facial dysmorphism, and poor growth. Hitherto, twenty-seven individuals with Jaberi-Elahi syndrome have been reported in the literature. This study, describes a review of the symptoms related to the Jaberi-Elahi syndrome. A large numbers of patients manifest motor development delay (26/28), sparse hair (26/28), and speech disorder (24/28). Moreover, a significant fraction of patients suffer from intellectual disability (23/28), hypotonia (23/28), skeletal problems (23/28), and visual impairment (18/28). In spite of previous patients, the proband in this study did not exhibit any skeletal abnormalities. In summary, we present evidence implicating a novel missense variant in Jaberi-Elahi syndrome, expanding and refining the genetic spectrum of this condition.

Correlation of growth differentiation factor-5 + 104T>C polymorphism with the risk of knee, hand, and hip osteoarthritis: a case-control study and meta-analysis based on 47 case-control studies.

Osteoarthritis (OA) arises from a intricate interplay of genetic and environmental factors. Numerous studies have explored the link between the growth differentiation factor 5 (GDF-5) +104T>C polymorphism and OA risk, but the findings have been inconclusive. We carried out a case-control study with 704 OA cases and 418 healthy controls. Furthermore, we conducted a meta-analysis by thoroughly searching the literature for relevant studies published until 1 September, 2023. The combined odds ratio and 95% confidence intervals were used to assess the correlation's strength. A total of 47 independent case-control studies, including 17,602 OA cases and 30,947 controls, were analyzed. Of these, 31 studies (11,176 cases, 16,724 controls) focused on knee OA, 8 studies (3,973 cases, 8,055 controls) examined hip OA, and 6 studies (2244 cases, 5965 controls) investigated hand OA. Overall, our findings suggest that the GDF-5 + 104T>C polymorphism has a protectibe role in development of OA in global scale. Subgroup analyses by ethnicity indicated that this genetic variation provides protection against OA in Caucasian, Asian, and African populations. Further subgroup analysis based on the type of OA showed a decreased risk of knee and hand OA associated with this variation, but not for hip OA. Our combined data indicates that the GDF-5 + 104T>C polymorphism offers protection against the development of OA in general, as well as knee and hand OA. Nevertheless, there was no correlation found between this polymorphism and the development of hip OA.

A Comprehensive Integration of Data Regarding the Correlation of TNF-α rs1800629 Polymorphism with Susceptibility to Cervical Cancer.

BACKGROUND: Cervical cancer, globally, ranks as the runner-up among the most prevalent forms of cancer affecting women. The role of the tumor necrosis factor alpha (TNF-α) polymorphism in the susceptibility to cervical cancer has been a subject of interest. However, the current evidence regarding this association remains inconclusive. METHODS: To address this uncertainty, eligible studies were systematically searched and retrieved from various databases including Cochrane Library, EMBASE, PubMed, Web of Science, CNKI, and Wanfang database. The search was conducted until September 01, 2023. The collected literature was then subjected to independent analysis by two authors. The pooled odds ratio along with the corresponding 95% confidence interval was calculated using different genetic models. Additionally, sensitivity and cumulative analyses were performed to assess the stability of the obtained results. RESULTS: A total of 29 case-control studies involving 8850 cases and 9286 controls were included in the present analysis. The findings revealed that the TNF-α rs1800629 polymorphism increased the risk of cervical cancer under the allele genetic model (A vs. G: OR = 1.277, 95% CI = 1.104-1.477, P = 0.001) in the general population. Subgroup analysis based on ethnicity demonstrated that this polymorphism was associated with an increased risk of cervical cancer in Caucasian and African women, but not in Asians. Furthermore, subgroup analysis based on country of origin indicated a significant correlation between the TNF-α rs1800629 polymorphism and an increased risk of cervical cancer in American and Chinese women, but not in Iranian women. CONCLUSIONS: The findings from this meta-analysis suggest that the TNF-α rs1800629 polymorphism is a risk factor for cervical cancer in the general population, particularly in Caucasian and African women. However, further well-designed studies are warranted to validate these findings.

Consolidating data on the association of IL-6 and IL-10 polymorphisms with the development of glaucoma: a meta-analysis.

BACKGROUND: The study aimed to investigate the association of IL-6 and IL-10 polymorphisms with susceptibility to glaucoma by analyzing all relevant individual studies. MATERIALS AND METHODS: Relevant articles were gathered from PubMed, Web of Science, Embase, WanFang, and CNKI databases up to 15 October 2023. Odds ratios (ORs) were used to evaluate the association strengths, along with 95% confidence intervals (CIs). RESULTS: Seven case-control studies involving 1408 cases and 1789 controls on the IL-6 -174 G>C polymorphism, and three studies with 675 cases and 1100 controls on the IL-6 -572 G>C were included. Moreover, three separate studies, each comprising 442 cases and 672 controls, investigated the IL-10 -592C>A, -819T>C, and -1082A>G polymorphisms. The combined data indicated a significant association between -592C>A, -819T>C, and -1082A>G at IL-10 gene and IL-6 -572 G>C with glaucoma susceptibility, with no correlation found for IL-6 -174 G>C. CONCLUSIONS: The study found that IL-10 -592C>A, -819T>C, -1082A>G, and IL-6 -572 G>C polymorphisms were linked to glaucoma risk. However, no significant association was observed for IL-6 -174 G>C. These findings imply a possible connection between genetic variations in these genes and glaucoma risk. Further research is crucial to fully understand the underlying mechanisms and their significance in managing and preventing glaucoma.

Association of the CXCL12 rs1801157 Polymorphism with Breast Cancer Risk: A Meta-Analysis.

Studies on the CXCL12 rs1801157 polymorphism show that this polymorphism is involved in development of breast cancer, but its specific relationships or effects are not consistent. The purpose of this meta-analysis was to investigate the association between CXCL12 rs1801157 polymorphism and susceptibility to breast cancer. PubMed, Scopus, Embase, the Cochrane Library, Web of Science, and CNKI were searched for eligible studies through February 01, 2023. A total of ten studies with 2093 cases and 2302 controls were included in this meta-analysis. Overall, there is a significant association between CXCL12 rs1801157 polymorphism and risk of breast cancer under the homozygote genetic model (AA vs. GG, OR= 1.350, 95% CI: 1.050-1.734, p= 0.019). Stratified by ethnicity showed a significant association in Caucasian women, but not among Asian and mixed populations. This meta-analysis confirms that CXCL12 rs1801157 polymorphism is related to breast cancer risk, especially among Caucasian women. However, well-designed large-scale studies are required to further evaluate 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.

Lack of Association between TP73 G4C14-A4T14 Polymorphism and Cervical Cancer Risk in Overall and Asian Women: A Meta-Analysis.

BACKGROUND: Growing studies revealed the association between polymorphisms in Tumor Protein TP73 (TP73) and susceptibility to cancer, especially with gynecological cancers. but, the results remained inconsistent. This meta-analysis was carried out to examine the relationship of the TP73 G4C14-to-A4T14 polymorphism (hereafter, G4C14-to-A4T14) with susceptibility to cervical cancer globally and by ethnicity. METHODS: Eligible studies were collected by retrieving PubMed, Scopus, Web of Science, Embase, Wan Fang, and CNKI published before 25 October, 2023. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of such association. RESULTS: A total of 10 case-control studies with 1804 cervical cancer cases and 2433 healthy controls were included to this study. The pooled results showed that TP73 G4C14-to-A4T14 polymorphism was not associated with cervical cancer risk in overall. in terms of stratified analyses by ethnicity, this polymorphism was not associated with risk of cervical cancer among East-Asian women. however,  there was a significant association based source of control among hospital-based studies. CONCLUSIONS: Inconsistent with previous meta-analyses, our pooled results revealed that TP73 G4C14-to-A4T14 polymorphism might not be a risk factor for development of cervical cancer globally and among East-Asian women. Moreover, further studies examining the effect of gene-gene and gene-environment interactions may eventually provide a better knowledge.

Correlation between rs1800871, rs1800872 and rs1800896 Polymorphisms at IL-10 Gene and Lung Cancer Risk.

BACKGROUND: The tumorigenesis of lung cancer is complicated, and genetic factor may have the role in the malignant transformation of lung cells. IL-10 gene polymorphisms have been evaluated for their potential roles in lung cancer. However, those studies results are controversial. To clarify the effects of IL-10 rs1800871, rs1800872 and rs1800896 polymorphisms on the risk of lung cancer, a meta-analysis was performed with eligible individual studies. METHODS: Eligible publications were gathered by retrieving PubMed, Web of Science, Embase, Wan Fang, and CNKI up to September 01, 2023. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of such association. RESULTS: A total of 23 studies, including 5950 patients with lung cancer and 8046 healthy controls, were identified in this meta-analysis.  Overall, there was no a significant association between the rs1800871, rs1800872 and rs1800896 polymorphisms at IL-10 gene and susceptibility to lung cancer globally when all studies in the pooled into this meta-analysis. Stratified analysis by ethnicity showed that rs1800872 polymorphism was associated with lung cancer among Asians and Caucasians. However, no significant association was identified between the rs1800871 and rs1800896 and risk of lung cancer. CONCLUSIONS: Pooled data showed that  IL-10 rs1800871, rs1800872 and rs1800896 polymorphisms were not associated with lung cancer globally. Future well-designed large case-control studies with different ethnicities are recommended.