Human Genetics And Molecular Medicine - Research Publications

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Author: search.filters.author.Khetarpal, PreetiSubject: search.filters.subject.Systematic review

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    Maternal candidate gene variants, epigenetic factors, and susceptibility to idiopathic recurrent pregnancy loss: A systematic review
    (John Wiley and Sons Ltd, 2023-01-30T00:00:00) Kaur, Mandeep; Kaur, Rajinder; Chhabra, Kiran; Khetarpal, Preeti
    Background: Recurrent pregnancy loss is defined as the loss of two or more pregnancies and is a distressing condition for couples. Objective: To investigate the relationship between variants in the candidate susceptibility genes and epigenetic factors to identify risk factors for idiopathic recurrent pregnancy loss (iRPL). Search Strategy: A systematic literature search was performed using PubMed, Google Scholar, ScienceDirect, and Scopus databases. Insilico analysis was carried out using ShinyGO and STRING software. Selection Criteria: Research papers examining the association between variations in genetic and epigenetic factors and iRPL. Data Collection and Analysis: Data were independently extracted by two authors. Main Results: In total, 83 research papers were finally selected for the present study. Among all the genes involved in the pathogenesis of recurrent pregnancy loss, polymorphisms in IL superfamily genes, VEGF, ESR, and MTHFR were the most investigated. Conclusion: Polymorphisms in angiogenesis, immune tolerance, and thrombophilia pathway genes, which occur independently or synergistically, may lead to various complications during fetal development. Identification of multi-allele risk variants and epigenetic factors in women will be helpful in the identification of high-risk pregnancies. Prospero Registration Number: Prospero CRD42021287315. � 2023 International Federation of Gynecology and Obstetrics.
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    Assessment of Serum Elements Concentration and Polycystic Ovary Syndrome (PCOS): Systematic Review and Meta-analysis
    (Springer, 2022-01-14T00:00:00) Sharma, Priya; Gupta, Vartika; Kumar, Kush; Khetarpal, Preeti
    Change in the levels of trace elements has been linked with PCOS pathogenesis by various studies, whereas some had reported no such association. Therefore, in order to evaluate association of eleven trace element (Cu, Zn, Cr, Cd, Se, Mn, Fe, Mg, Co, Ni and Pb) serum concentration with PCOS pathogenesis, current systematic review and meta-analysis has been carried out. Literature search was conducted using PubMed, Central Cochrane Library, Google Scholar and Science Direct databases with appropriate keywords. Studies published upto 3rd of September were evaluated for eligibility with suitable inclusion and exclusion criteria. Only case�control studies examining the association of serum trace element concentrations between PCOS cases and controls were selected. Present meta-analysis identified 32 articles with 2317 PCOS and 1898 controls. The serum Cu (MD = 15.40; 95% CI = 4.32 to 26.48; p = 0.006), Co (MD = 0.01; 95% CI = 0.01 to 0.02; p = 0.000), Cr (MD = 0.04; 95% CI = 0.00 to 0.07; p = 0.03) and Fe (MD = 12.98; 95% CI = 5.87�20.09; p = 0.0003) concentration is significantly higher, while lower concentration has been observed for Se (MD = ? 0.99; 95% CI = ? 1.31 to ? 0.67; p = 0.000) and Mg (MD = ? 223.41; 95% CI = ? 391.60 to ? 55.23; p = 0.009) among women with PCOS in comparison with the healthy group. Concentration of other elements which were analysed is not significantly related to PCOS. In short, PCOS women has higher serum concentrations of Cu, Co, Cr and Fe and lower concentrations of Se and Mg. Studies with sub-population of obese, non-obese and with and without insulin resistance are important to understand the pathomechanism of these elements in the syndrome. � 2021, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.