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1.
J Assist Reprod Genet ; 41(9): 2457-2475, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39126595

RESUMEN

INTRODUCTION: The present meta-analysis aimed to investigate FTO rs9939609 and KISS1 rs4889, rs372790354 gene polymorphisms and its association with PCOS in Asian population. METHODS: The studies included in this article were obtained by using online databases. We searched databases such as Scopus, PubMed, Embase, and Web of Science for case-control articles related to FTO and KISS1 gene polymorphism with PCOS. Metagenyo software was used to determine the 95% confidence interval (CI) and odds ratio (OR). RESULTS: A total of 13 articles was included in this meta-analysis for FTO (rs9939609) and KISS1 (rs4889; rs372790354) gene polymorphisms related with PCOS in the Asian population. According to the findings of this study, people with FTO rs9939609 show an association with PCOS risk in dominant model. On contradictory, KISS1 gene polymorphism specifically, rs4889 show an association with PCOS risk in allelic, recessive, and dominant models whereas rs372790354 show an association with PCOS risk in allelic and dominant models. Power analysis was performed and PPI is > 0.04. The sting analysis network for FTO and KISS1 gene estimated 12 nodes and 23 edges. DISCUSSION: The FTO rs9939609 variant exhibits an association with an increased risk of PCOS in the dominant model. KISS1 gene polymorphism, particularly rs4889, shows a significant association with PCOS risk in allelic, recessive, and dominant models. Similarly, KISS1 rs372790354 gene is associated with PCOS risk in both allelic and dominant models. Researches were focused only on the Asian population so; it is imperative to conduct further research across diverse populations.


Asunto(s)
Dioxigenasa FTO Dependiente de Alfa-Cetoglutarato , Predisposición Genética a la Enfermedad , Kisspeptinas , Síndrome del Ovario Poliquístico , Polimorfismo de Nucleótido Simple , Humanos , Síndrome del Ovario Poliquístico/genética , Síndrome del Ovario Poliquístico/patología , Kisspeptinas/genética , Femenino , Dioxigenasa FTO Dependiente de Alfa-Cetoglutarato/genética , Polimorfismo de Nucleótido Simple/genética , Pueblo Asiatico/genética , Obesidad/genética , Obesidad/patología , Estudios de Casos y Controles , Alelos , Estudios de Asociación Genética
2.
Niger Postgrad Med J ; 31(2): 93-101, 2024 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-38826012

RESUMEN

Age-related macular degeneration (AMD) is a prevalent and incurable condition affecting the central retina and posing a significant risk to vision, particularly in individuals over the age of 60. As the global population ages, the prevalence of AMD is expected to rise, leading to substantial socioeconomic impacts and increased healthcare costs. The disease manifests primarily in two forms, neovascular and non-neovascular, with genetic, environmental and lifestyle factors playing a pivotal role in disease susceptibility and progression. This review article involved conducting an extensive search across various databases, including Google Scholar, PubMed, Web of Science, ScienceDirect, Scopus and EMBASE, to compile relevant case-control studies and literature reviews from online published articles extracted using search terms related to the work. SIRT1, a key member of the sirtuin family, influences cellular processes such as ageing, metabolism, DNA repair and stress response. Its dysregulation is linked to retinal ageing and ocular conditions like AMD. This review discusses the role of SIRT1 in AMD pathology, its association with genetic variants and its potential as a biomarker, paving the way for targeted interventions and personalised treatment strategies. In addition, it highlights the findings of case-control studies investigating the relationship between SIRT1 gene polymorphisms and AMD risk. These studies collectively revealed a significant association between certain SIRT1 gene variants and AMD risk. Further studies with larger sample sizes are required to validate these findings. As the prevalence of AMD grows, understanding the role of SIRT1 and other biomarkers becomes increasingly vital for improving diagnosis, treatment and, ultimately, patient outcomes.


Asunto(s)
Degeneración Macular , Sirtuina 1 , Humanos , Sirtuina 1/genética , Degeneración Macular/genética , Degeneración Macular/epidemiología , Predisposición Genética a la Enfermedad , Polimorfismo Genético
3.
J Turk Ger Gynecol Assoc ; 25(3): 167-178, 2024 Aug 29.
Artículo en Inglés | MEDLINE | ID: mdl-39219254

RESUMEN

Polycystic ovary syndrome (PCOS) is a common endocrine and metabolic disorder that impacts women before reaching menopause. In addition to notable features (irregular ovulation, elevated androgen levels, and the existence of numerous ovarian cysts), individuals with PCOS frequently encounter diverse metabolic, cardiovascular, and psychological conditions. The onset of PCOS is influenced by a combination of factors, and various genetic variations are believed to play a significant role in its progression. The objective of the current study was to explore the link between genetic variations in the candidate genes thyroid-adenoma-associated (THADA) gene and insulin receptor (INSR) and susceptibility to developing PCOS. We conducted an extensive search across various databases, including Google Scholar, PubMed, Science Direct, Scopus, and EMBASE, to compile relevant case-control studies and literature reviews for subsequent statistical analysis. In the present study, the Preferred Reporting Items for Systematic Reviews and Meta-Analyses checklist was followed, a guideline for Systematic Reviews and Meta-Analysis. While a previous meta-analysis explored the correlation between INSR rs1799817 and THADA rs13429458 and their association with susceptibility to PCOS, our current study did not integrate any findings from these prior investigations. Our research encompassed articles published between 2017 and 2023, and we employed MetaGenyo software to assess the collected data. Statistical power analysis was performed using G*Power 3.1 software. Odds ratios and their corresponding 95% confidence intervals were calculated for each genetic model. Fifteen studies that met the criteria were analyzed. Out of these, ten studies, involving 1,189 cases and 1,005 controls, examined the INSR rs1799817 gene polymorphism, while five studies, including 783 cases and 553 controls, investigated the THADA rs13429458 gene polymorphism. The meta-analysis results indicated that there was no statistically significant association between the INSR rs1799817 gene polymorphism and the risk of PCOS (p>0.05). In contrast, the THADA rs13429458 gene polymorphism showed a significant association with PCOS risk under the over-dominant model (p<0.05). The present meta-analysis demonstrated a notable association between the THADA rs13429458 gene polymorphism and the likelihood of developing PCOS. Further rigorous studies with expanded sample sizes and diverse ethnic representation will be important to comprehensively evaluate and validate these findings.

4.
Int J Mycobacteriol ; 12(4): 467-477, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38149545

RESUMEN

Background: The present meta-analysis was assessed to confirm the association between solute carrier family 11-member A1 (SLC11A1) gene (rs17235409) polymorphism with the Mycobacterium tuberculosis infection in the Asian and Caucasian populations. Methods: A search was conducted using the databases including Google Scholar, Science Direct, Embase, and PubMed to find the case-control studies related to SLC11A1 gene polymorphism and tuberculosis (TB) infection. The MetaGenyo programme was used to perform statistical analyses of the data. The odds ratio and 95% confidence interval were calculated based on genetic models such as allelic model, dominant model, recessive model, and overdominant. The heterogeneity and publication bias for the present study were examined to assess its quality. The study was registered in PROSPERO (ID Number: 461434). Results: This current study revealed the association between the SLC11A1 gene polymorphism with TB. The statistical value obtained at P < 0.05 was deemed to be statistically significant. The meta-analysis results revealed that allele contrast and recessive models are significant association between SLC11A1 gene polymorphism with risk of TB infections, and dominant and overdominant models have no significant association with TB risk. In addition, the subgroup analysis based on the ethnicity dominant revealed a significant association with the risk of TB. Therefore, this results that the gene SLC11A1 has a significant association for allelic and recessive and has no significant association for dominant and overdominant with the risk of TB. Conclusion: According to the data retrieved from the database with respect to the present study revealed that SLC11A1 gene polymorphism rs17235409 for allelic, recessive models have been associated with TB infections, but dominant and overdominant models have not been associated with TB infections.


Asunto(s)
Proteínas de Transporte de Catión , Predisposición Genética a la Enfermedad , Tuberculosis , Humanos , Polimorfismo de Nucleótido Simple , Tuberculosis/genética , Población Blanca/genética , Proteínas de Transporte de Catión/genética , Pueblo Asiatico/genética
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