The Relationship between Prenatal Risk Factors and The Incident of Sensorineural Deafness in Children at Polyclinic ENT- Head and Neck Zainoel Abidin Hospital Banda Aceh *,

Dina Alia,; Azwar Ridwan,; Juniar,; Azzam Faiz Mutawakkil,

doi:10.30574/ijsra.2023.9.1.0427

Cited by 1 publication

(2 citation statements)

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“…Additionally, allele frequencies in cases and controls were also calculated along with association p-value and oddsratio (7,8). Besides, SPSS bivariate analysis was further performed to assess the correlation between creatinine and urea levels (9).…”

Section: Dna Amplificationmentioning

confidence: 99%

“…SLC47A1 gene consist of 83,650bp, located on chr.17 p11.2, that encodes MATE1 protein (multidrug and toxin extrusion transporter 1, 570aa), highly expressed at basolateral and apical membranes of renal tubular epithelial cells, liver and muscles in humans (5)(6)(7). MATE1 protein shows homology with toxic compound extrusion transporter NorM in bacteria, which worked by the electrochemical gradient of protons and cations across the cell membranes (6,(8)(9)(10)(11)(12). The MATE1 protein also plays an important role for the secretion/extrusion of creatinine, metformin, cimetidine and tetraethyl ammonium (TEA) into the urine (13).…”

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confidence: 99%

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Genetic Association ofSLC47A1Gene Variant (17:19571562C >T) and Bioinformatics Analyses of MATE1 Protein in Chronic Kidney Disease Patients of Pakistani Origin

Hussain,

Saif,

Younus

et al. 2023

Preprint

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Chronic Kidney Disease (CKD) is a serious human threat worldwide which is associated with a number of environmental, clinical and genetic factors that affect serum creatinine (SCr) and glomerular filtration rate (eGFR). One of the best biochemical and genetic markers to study renal functioning isSLC47A1which encodes MATE1 protein and can be a promising target to study its genetic causes, subject protein is a cationic transporter involved in the regulation of creatinine and urea levels in the blood which may cause toxicity and renal disorders. Hence, the current study focused to interrogate the putative association ofSLC47A1gene variant (17:19571562C>T) in 75 individuals (cases=50, controls=25) of Pakistani origin using ARMS-PCR genotyping, out of which 10 were found heterozygous, 57 homozygous wild-type and 08 homozygous mutants. PLINK data analysis toolset was used which manifested that sampled population complies the Hardy-Weinberg Equilibrium by χ2(2,N= 75) =,p= 4.756 × 10-005, similarly the Chi-square statisticsp= 0.03274 along with odds-ratio of 3.244 showing a significant genotypic association with the subject phenotype indicating that mutant allele is almost 3-times more prevalent in cases vs control cohorts with an alternative allele frequency of 0.22 and 0.08 in CKD patients and healthy controls respectively. Besides, few of the bioinformatics tools i.e., ProtParam, PsiPred, PDB-RCSB, Motif Scan, CTU-TMHMM-2.0, ScanProsite, PRmePRed, GPS PAIL2.0, NetOGlyc4.0, NetPhos3, SIFT, Polyphen-2 and STRING were also used for the prediction of different parameters of both the wild-type and mutant MATE1 proteins such as physiochemical properties, secondary structure prediction, 3-D structure, protein conserved domains, transmembrane structures, posttranslational modifications, SNP prediction/amino acid substitution, pathogenicity and protein-protein interaction networks. Current preliminary genotyping provided an insight into the association of the aforementioned genetic variant with CKD to estimate the genetic risks along with prediction of its functional effects in the system biology context which may be considered for developing new targeted drugs along with genetic counselling initiatives to evade this peril in the population.

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Section: Dna Amplificationmentioning

confidence: 99%