RGD Reference Report - Association between single-nucleotide polymorphisms in selectin genes and immunoglobulin A nephropathy. - Rat Genome Database

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Association between single-nucleotide polymorphisms in selectin genes and immunoglobulin A nephropathy.

Authors: Takei, T  Iida, A  Nitta, K  Tanaka, T  Ohnishi, Y  Yamada, R  Maeda, S  Tsunoda, T  Takeoka, S  Ito, K  Honda, K  Uchida, K  Tsuchiya, K  Suzuki, Y  Fujioka, T  Ujiie, T  Nagane, Y  Miyano, S  Narita, I  Gejyo, F  Nihei, H  Nakamura, Y 
Citation: Takei T, etal., Am J Hum Genet. 2002 Mar;70(3):781-6. Epub 2002 Feb 1.
RGD ID: 1625253
Pubmed: PMID:11828340   (View Abstract at PubMed)
PMCID: PMC384956   (View Article at PubMed Central)
DOI: DOI:10.1086/339077   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
IgA glomerulonephritis  IAGP 1625253DNA:SNP:exon:p.H468Y (human)RGD 
IgA glomerulonephritis  IAGP 1625253 RGD 
IgA glomerulonephritis  ISOSELE (Homo sapiens)1625253; 1625253DNA:SNP:exon:p.H468Y (human)RGD 
IgA glomerulonephritis  ISOSELL (Homo sapiens)1625253; 1625253 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Sele  (selectin E)
Sell  (selectin L)

Genes (Mus musculus)
Sele  (selectin, endothelial cell)
Sell  (selectin, lymphocyte)

Genes (Homo sapiens)
SELE  (selectin E)
SELL  (selectin L)

Additional Information