scholarly journals Association between Kidney Injury Molecule-1 Gene Polymorphism and Acute Kidney Injury in Lebanese population

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.

Critical Care ◽  
2015 ◽  
Vol 19 (1) ◽  
Author(s):  
Pavan Bhatraju ◽  
Christine Hsu ◽  
Paramita Mukherjee ◽  
Bradford J. Glavan ◽  
Amber Burt ◽  
...  

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.


2014 ◽  
Vol 54 (8) ◽  
pp. 987 ◽  
Author(s):  
M. Z. Fu ◽  
G. Li ◽  
Z. Q. Zhou

The objective of the present study was to explore a predictor of superovulation response on the basis of associations between the number of embryos recovered and gene polymorphism. Variation in the goat LHβ and GnRHR genes was investigated using polymerase chain reaction–single-strand conformational polymorphism and DNA sequencing. Two single nucleotide polymorphisms (SNPs) were identified in the 5′-UTR of LHβ gene (A59C, P1 locus) and in the Exon 2 of GnRHR gene (T177A, P6 locus). At the P1 locus in both breeds, the frequencies of one allele were 0.46 and 0.51, respectively. At the P6 locus, the minor allele frequency was 0.23. Associations of both SNPs with the number of embryos recovered and the corpus luteum number were evaluated in Boer and Shaanbei goat breeds. Association analysis showed that both SNPs had significant (P < 0.05) effects on the number of embryos recovered and corpus luteum number. These results indicate that LHβ and GnRHR genes are potential markers for the number of embryos recovered.


Cephalalgia ◽  
2010 ◽  
Vol 31 (3) ◽  
pp. 264-270 ◽  
Author(s):  
S Menon ◽  
HC Cox ◽  
M Kuwahata ◽  
S Quinlan ◽  
JC MacMillan ◽  
...  

Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) shares common symptoms with migraine. Most CADASIL causative mutations occur in exons 3 and 4 of the Notch 3 gene. This study investigated the role of C381T (rs 3815188) and G684A (rs 1043994) single nucleotide polymorphisms (SNP) in exons 3 and 4, respectively, of the Notch 3 gene in migraine. Results: The first part of the study, in a population of 275 migraineurs and 275 control individuals, found a significant association between the C381T variant and migraine, specifically in migraine without aura (MO) sufferers. The G684A variant was also found to be significantly associated with migraine, specifically in migraine with aura (MA) sufferers. A follow-up study in 300 migraineurs and 300 control individuals did not show replicated association of the C381T variant with migraineurs. However, the G684A variant was again shown to be significantly associated with migraine, specifically with MA. Conclusion: Further investigation of the G684A variant and the Notch 3 gene is warranted to understand their role in migraine.


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

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