Plausibility of the Application of SNPs Haplotype Analysis within the Renalase Gene in Children with a Family History of Chronic Kidney Disease.

Document Type : Original Article

Authors

1 Bioinformatics & Molecular Biology Unit, Department of Zoology, Faculty of Science, Al-Azhar University, Cairo, Egypt.

2 Nephrology Unit, Department of Pediatrics, Faculty of Medicine, Al-Azhar University (girls).

3 Cytology and Histology Lab., Department of Zoology, Faculty of Science, Al-Azhar University, Cairo, Egypt,

Abstract

Introduction: Renalase (RNLS) gene single nucleotide polymorphisms (SNPs) rs2296545 and rs10887800 are considered as one of the genetic risk factors for Endstage renal disease(ESRD) in Egyptian children. 
Aim of the study: Detect the association between the inferred haplotypes of the RNLS gene SNPs (rs2296545 and rs10887800) and ESRD in patients with a family history of chronic kidney disease (CKD).
Methods: The study population consisted of 65 Egyptian children (8 ESRD patients with a family history, 30 ESRD patients without family history and 27 controls). The distribution of RNLS haplotypes and linkage disequilibrium (LD) analysis between two SNPs were analyzed by LD2SNPing software.
Results: We found that ESRD patients with and without a family history had higher frequencies of C-G haplotype than controls. The odds ratio was 2.21(95% CI: 1.01-4.83) and 5.53(95% CI: 2.36 - 12.94) respectively. The C-A haplotype was significantly increased in the healthy controls and dialysis patients without a family history of CKD than patients with a family history, odds ratio of 0.25 (95% CI: 0.11-0.56) and 0.29 (95% CI: 0.11-0.71) respectively. Furthermore, Linkage disequilibrium analysis showed a higher degree of linkage between rs2296545 and rs10887800, D'=1.0 and r2= 0.61].
Conclusion: The C-G haplotype represented by the SNPs rs2296545 and rs10887800 in the RNLS gene may have a role in the pathophysiology of CKD in patients with a family history.

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