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Association between single-nucleotide polymorphisms in selectin genes and immunoglobulin A nephropathy.
- Source :
-
American journal of human genetics [Am J Hum Genet] 2002 Mar; Vol. 70 (3), pp. 781-6. Date of Electronic Publication: 2002 Feb 01. - Publication Year :
- 2002
-
Abstract
- Although intensive efforts have been undertaken to elucidate the genetic background of immunoglobulin A nephropathy (IgAN), genetic factors associated with the pathogenesis of this disease are still not well understood. We designed a case-control association study that was based on linkage disequilibrium among single-nucleotide polymorphisms (SNPs) in the selectin gene cluster on chromosome 1q24-25, and we found two SNPs in the E-selectin gene (SELE8 and SELE13) and six SNPs in the L-selectin gene (SELL1, SELL4, SELL5, SELL6, SELL10, and SELL11) that were significantly associated with IgAN in Japanese patients. All eight SNPs were in almost complete linkage disequilibrium. SELE8 and SELL10 caused amino acid substitutions from His to Tyr and from Pro to Ser (chi2=9.02, P=.0026, odds ratio = 2.73 [95% confidence interval [CI] 1.38--5.38] for His-to-Tyr substitutions; chi2=17.4, P=.000031, odds ratio = 3.61 [95% CI 1.91--6.83] for Pro-to-Ser substitutions), and SELL1 could affect promoter activity of the L-selectin gene (chi2=19.5, P=.000010, odds ratio = 3.77 [95% CI 2.02--7.05]). The TGT haplotype at these three loci was associated significantly with IgAN (chi2=18.67, P=.000016, odds ratio = 1.88 [95% CI 1.41--2.51]). Our results suggest that these eight SNPs in selectin genes may be useful for screening populations susceptible to the IgAN phenotype that involves interstitial infiltration.
- Subjects :
- Case-Control Studies
Chromosomes, Human, Pair 1 genetics
Genetic Predisposition to Disease
Genetic Testing
Haplotypes genetics
Humans
Japan
Linkage Disequilibrium genetics
Multigene Family genetics
Odds Ratio
Promoter Regions, Genetic genetics
E-Selectin genetics
Glomerulonephritis, IGA genetics
L-Selectin genetics
Polymorphism, Single Nucleotide genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0002-9297
- Volume :
- 70
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- American journal of human genetics
- Publication Type :
- Academic Journal
- Accession number :
- 11828340
- Full Text :
- https://doi.org/10.1086/339077