scholarly journals Associations between single nucleotide polymorphisms in the FAS pathway and acute kidney injury

Critical Care ◽  
2015 ◽  
Vol 19 (1) ◽  
Author(s):  
Pavan Bhatraju ◽  
Christine Hsu ◽  
Paramita Mukherjee ◽  
Bradford J. Glavan ◽  
Amber Burt ◽  
...  
2019 ◽  
Vol 3 (3) ◽  
pp. 9
Author(s):  
Hajar Karaali ◽  
Jamilah Borjac

Background: Acute kidney injury is a common condition associated with longer hospital stay and increased mortality. Kidney injury molecule-1 is one of the early and sensitive biomarkers for acute kidney injury diagnosis. Therefore we examined the relationship between kidney injury molecule-1 gene polymorphism and acute kidney injury in Lebanese hospitalized patients. Methods: Genomic DNA was isolated from blood samples collected from 50 patients and 40 controls. Kidney injury molecule-1 exon 4 was amplified by polymerase chain reaction. The amplified products were sequenced. Serum creatinine and urea levels were measured. Results: Three out of the five known single nucleotide polymorphisms showed significant association with susceptibility to the disease (P ≤ 0.05). Data analysis implied that carriers of the risk allele of these 3 single nucleotide polymorphisms were more predisposed to acute kidney injury. No association was found between the studied nucleotides variations and creatinine/urea levels. Haplotype analysis showed high association of the block CTA with acute kidney injury incidence and high creatinine and urea levels. Conclusions: Our results suggest that polymorphisms in exon 4 of kidney injury molecule-1 in the Lebanese population may be associated with acute kidney injury.


Genes ◽  
2020 ◽  
Vol 11 (4) ◽  
pp. 358
Author(s):  
Bram C. Agema ◽  
Stijn L.W. Koolen ◽  
Mirjam de With ◽  
Nadia van Doorn ◽  
Niels Heersche ◽  
...  

Cisplatin is a chemotherapeutic agent widely used for multiple indications. Unfortunately, in a substantial set of patients treated with cisplatin, dose-limiting acute kidney injury (AKI) occurs. Here, we assessed the association of 3 catechol-O-methyltransferase (COMT) single nucleotide polymorphisms (SNPs) with increased cisplatin-induced nephrotoxicity. In total, 551 patients were genotyped for the 1947 G>A (Val158Met, rs4680), c.615 + 310 C>T (rs4646316), and c.616–367 C>T (rs9332377) polymorphisms. Associations between these variants and AKI grade ≥3 were studied. The presence of a homozygous variant of c.616-367C>T was associated with a decreased occurrence of AKI grade 3 toxicity (p = 0.014, odds ratio (OR) 0.201, 95% confidence interval (CI) (0.047–0.861)). However, we could not exclude the role of dehydration as a potential cause of AKI in 25 of the 27 patients with AKI grade 3, which potentially affected the results substantially. As a result of the low incidence of AKI grade 3 in this dataset, the lack of patients with a COMT variant, and the high number of patients with dehydration, the association between COMT variants and AKI does not seem clinically relevant.


2010 ◽  
Vol 34 (8) ◽  
pp. S75-S75
Author(s):  
Weifeng Zhu ◽  
Zhuoqi Liu ◽  
Daya Luo ◽  
Xinyao Wu ◽  
Fusheng Wan

2007 ◽  
Vol 28 (3) ◽  
pp. 161-164 ◽  
Author(s):  
Rosalind Arden ◽  
Nicole Harlaar ◽  
Robert Plomin

Abstract. An association between intelligence at age 7 and a set of five single-nucleotide polymorphisms (SNPs) has been identified and replicated. We used this composite SNP set to investigate whether the associations differ between boys and girls for general cognitive ability at ages 2, 3, 4, 7, 9, and 10 years. In a longitudinal community sample of British twins aged 2-10 (n > 4,000 individuals), we found that the SNP set is more strongly associated with intelligence in males than in females at ages 7, 9, and 10 and the difference is significant at 10. If this finding replicates in other studies, these results will constitute the first evidence of the same autosomal genes acting differently on intelligence in the two sexes.


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