Interleukin-1β and receptor antagonist (IL-1Ra) gene polymorphisms and the prediction of the risk of end-stage renal disease

Interleukin-1β and receptor antagonist (IL-1Ra) gene polymorphisms and the prediction of the risk of end-stage renal disease

Cytokines play an important role in the pathogenesis of kidney disease and its progression to end-stage renal disease (ESRD). Inflammation is regulated by the genes of the interleukin 1 (IL-1) gene cluster. Therefore, it was hypothesized that a polymorphism in this gene cluster may be associated wit...

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Veröffentlicht in:Biomarkers 2006-03, Vol.11 (2), p.164-173
Hauptverfasser: Manchanda, P. K., Kumar, A., Bid, H. K., Mittal, R. D.
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Sprache:eng
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Biological and medical sciences
End-stage renal disease (ESRD)
haplotype
interleukin (IL) 1 gene cluster
Medical sciences
Nephrology. Urinary tract diseases
Nephropathies. Renovascular diseases. Renal failure
polymorphism
Renal failure
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creator Manchanda, P. K.
Kumar, A.
Bid, H. K.
Mittal, R. D.
description Cytokines play an important role in the pathogenesis of kidney disease and its progression to end-stage renal disease (ESRD). Inflammation is regulated by the genes of the interleukin 1 (IL-1) gene cluster. Therefore, it was hypothesized that a polymorphism in this gene cluster may be associated with the risk of ESRD. Polymorphisms in the IL-1 gene cluster were examined in a cohort of 222 ESRD patients and 206 controls of similar ethnicity. These individuals were genotyped for IL-1 β (promoter -511 and exon-5 +3953) genes and a variable number of tandem repeats (VNTR) in the IL-1 receptor antagonist gene (IL-1Ra). There was significant difference in genotype frequencies between ESRD patients and control group for IL-1β (promoter region and exon-5) and IL-1Ra gene polymorphism (p
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K. ; Kumar, A. ; Bid, H. K. ; Mittal, R. D.</creator><creatorcontrib>Manchanda, P. K. ; Kumar, A. ; Bid, H. K. ; Mittal, R. D.</creatorcontrib><description>Cytokines play an important role in the pathogenesis of kidney disease and its progression to end-stage renal disease (ESRD). Inflammation is regulated by the genes of the interleukin 1 (IL-1) gene cluster. Therefore, it was hypothesized that a polymorphism in this gene cluster may be associated with the risk of ESRD. Polymorphisms in the IL-1 gene cluster were examined in a cohort of 222 ESRD patients and 206 controls of similar ethnicity. These individuals were genotyped for IL-1 β (promoter -511 and exon-5 +3953) genes and a variable number of tandem repeats (VNTR) in the IL-1 receptor antagonist gene (IL-1Ra). There was significant difference in genotype frequencies between ESRD patients and control group for IL-1β (promoter region and exon-5) and IL-1Ra gene polymorphism (p&lt;0.001, 0.006 and &lt; 0.001, respectively). A significant difference was observed in IL-1Ra for 1/1 (410/410) and 1/2 (410/240) genotypes, and the risk for ESRD was higher in those carrying the 1/1 genotype (p=0.014, OR = 1.692, and p&lt;0.001, OR = 0.163). Also identified was a novel, rare allele of a single copy of 86 bp in ESRD patients as compared with the controls. The haplotype 'T-E2-1' frequency distribution between patients and controls revealed greater than threefold risk (p=0.001, OR = 3.572, 95% CI = 1.589-8.032). Genetic linkage between the IL-1β promoter region and exon-5 and between the IL-1β promoter and IL-1Ra of IL-1 gene demonstrated a strong association among the variants in controls (D′ = 0.42, p&lt;0.001, and D′ = 0.39, p=0.001). Thus, the three polymorphisms within the IL-1 cluster are associated with ESRD. 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There was significant difference in genotype frequencies between ESRD patients and control group for IL-1β (promoter region and exon-5) and IL-1Ra gene polymorphism (p&lt;0.001, 0.006 and &lt; 0.001, respectively). A significant difference was observed in IL-1Ra for 1/1 (410/410) and 1/2 (410/240) genotypes, and the risk for ESRD was higher in those carrying the 1/1 genotype (p=0.014, OR = 1.692, and p&lt;0.001, OR = 0.163). Also identified was a novel, rare allele of a single copy of 86 bp in ESRD patients as compared with the controls. The haplotype 'T-E2-1' frequency distribution between patients and controls revealed greater than threefold risk (p=0.001, OR = 3.572, 95% CI = 1.589-8.032). Genetic linkage between the IL-1β promoter region and exon-5 and between the IL-1β promoter and IL-1Ra of IL-1 gene demonstrated a strong association among the variants in controls (D′ = 0.42, p&lt;0.001, and D′ = 0.39, p=0.001). 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Urinary tract diseases</topic><topic>Nephropathies. Renovascular diseases. Renal failure</topic><topic>polymorphism</topic><topic>Renal failure</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Manchanda, P. K.</creatorcontrib><creatorcontrib>Kumar, A.</creatorcontrib><creatorcontrib>Bid, H. K.</creatorcontrib><creatorcontrib>Mittal, R. D.</creatorcontrib><collection>Pascal-Francis</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Biomarkers</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Manchanda, P. K.</au><au>Kumar, A.</au><au>Bid, H. K.</au><au>Mittal, R. D.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Interleukin-1β and receptor antagonist (IL-1Ra) gene polymorphisms and the prediction of the risk of end-stage renal disease</atitle><jtitle>Biomarkers</jtitle><date>2006-03-01</date><risdate>2006</risdate><volume>11</volume><issue>2</issue><spage>164</spage><epage>173</epage><pages>164-173</pages><issn>1354-750X</issn><eissn>1366-5804</eissn><abstract>Cytokines play an important role in the pathogenesis of kidney disease and its progression to end-stage renal disease (ESRD). Inflammation is regulated by the genes of the interleukin 1 (IL-1) gene cluster. Therefore, it was hypothesized that a polymorphism in this gene cluster may be associated with the risk of ESRD. Polymorphisms in the IL-1 gene cluster were examined in a cohort of 222 ESRD patients and 206 controls of similar ethnicity. These individuals were genotyped for IL-1 β (promoter -511 and exon-5 +3953) genes and a variable number of tandem repeats (VNTR) in the IL-1 receptor antagonist gene (IL-1Ra). There was significant difference in genotype frequencies between ESRD patients and control group for IL-1β (promoter region and exon-5) and IL-1Ra gene polymorphism (p&lt;0.001, 0.006 and &lt; 0.001, respectively). A significant difference was observed in IL-1Ra for 1/1 (410/410) and 1/2 (410/240) genotypes, and the risk for ESRD was higher in those carrying the 1/1 genotype (p=0.014, OR = 1.692, and p&lt;0.001, OR = 0.163). Also identified was a novel, rare allele of a single copy of 86 bp in ESRD patients as compared with the controls. The haplotype 'T-E2-1' frequency distribution between patients and controls revealed greater than threefold risk (p=0.001, OR = 3.572, 95% CI = 1.589-8.032). 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subjects Biological and medical sciences
End-stage renal disease (ESRD)
haplotype
interleukin (IL) 1 gene cluster
Medical sciences
Nephrology. Urinary tract diseases
Nephropathies. Renovascular diseases. Renal failure
polymorphism
Renal failure
title Interleukin-1β and receptor antagonist (IL-1Ra) gene polymorphisms and the prediction of the risk of end-stage renal disease
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