Human Genetics And Molecular Medicine - Research Publications

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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.
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    Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy
    (Elsevier, 2014) Prasad, D.K.V.; Shaheen, U.; Satyanarayana, U.; Prabha, T.S.; Jyothy, A.; Munshi, A.
    The idiopathic generalized epilepsy (IGE) is a neurological disorder which accounts for approximately 30% of all epilepsy cases. Patients identified with IGE syndromes have pharmacoresponsive epilepsies without abnormal neurological symptoms, structural brain lesions and are of unknown origin. A genetic etiology to IGEs has been proposed. Gamma amino butyric acid (GABA), a major inhibitory neurotransmitter acts by binding to transmembrane GABAA and GABAB receptors of both pre- and postsynaptic neurons. Synapsin II (SynII), a neuron specific phosphoprotein plays a major role in synaptogenesis and neurotransmitter release. The present study was carried out with an aim to evaluate the association of GABRA6 (rs3219151) T>C and Syn II (rs37733634) A>G gene polymorphisms with IGE. Molecular analysis revealed that the frequency of 'CC' genotype and 'C'allele of GABRA6 (rs3219151) T>C gene polymorphism was significantly higher in IGE patients compared to healthy controls [CC vs. TT, ?2=26; p<0.001; Odds ratio=3.6 (95% CI; 2.1-5.9); C vs T, ?2=24.7; p<0.001; Odds ratio=1.78 (95% CI; 1.4-2.2)]. The frequency of 'GG' genotype and 'G' allele of the intronic polymorphism A>G in Syn II gene was also found to be significantly associated with the disease when compared to controls [GG vs AA, ?2=64.52; p<0.001; Odds ratio=7.37 (95% CI; 4.4-12.3); G vs. A, ?2=65.78; p<0.001; Odds ratio=2.57 (95% CI; 2.0-3.2)]. The generalized multifactor dimensionality reduction method was employed to detect gene-gene interactions. The gene-gene interaction at two loci involving GABRA6 and Syn II revealed a significant association [?2=36.6, p<0.001, Odds ratio=3.17 (95% CI; 2.2-4.6)] with IGE. Therefore, the present study clearly indicates that both GABRA6 (rs3219151) T>C and Syn II (rs37733634) A>G polymorphisms are important risk factors for the development of IGE in the South Indian population from Andhra Pradesh. The gene-gene interaction studies demonstrated significant interactive effects of these two loci in the development of the disease. ? 2014 Elsevier B.V.