RGD Reference Report - Novel sequence variants in the human xylosyltransferase I gene and their role in diabetic nephropathy. - Rat Genome Database

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Novel sequence variants in the human xylosyltransferase I gene and their role in diabetic nephropathy.

Authors: Bahr, C  Schon, S  Kuhn, J  Groop, PH  Parkkonen, M  Wessman, M  Kleesiek, K  Gotting, C 
Citation: Bahr C, etal., Diabet Med. 2006 Jun;23(6):681-4.
RGD ID: 2313136
Pubmed: PMID:16759312   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1464-5491.2006.01899.x   (Journal Full-text)

AIMS: Decreased content of heparan sulphate proteoglycans (HSPGs) is a characteristic of the glomerular basement membrane (GBM) in diabetes and contributes to the development of diabetic nephropathy (DN). Xylosyltransferase I (XT-I) is the chain-initiating enzyme involved in the biosynthesis of HSPGs. This study investigated a possible association between XYLT-I sequence variants and susceptibility to DN. METHODS: Screening of all XYLT-I exons was performed in 74 caucasians with Type 1 diabetes (48 with and 26 without DN) and in 13 non-diabetic control subjects using denaturing high-performance liquid chromatography. RESULTS: Fifteen XYLT-I sequence variants were identified. Of these, six were previously unknown. There were significant differences in the allele frequencies of the three polymorphisms (c.343G-->T (p.A115S), IVS3+10C-->T, IVS3+30G-->C) in Type 1 diabetic patients and healthy controls. CONCLUSIONS: The occurrence of DN is independent of the XYLT-I variants detected in our study. However, three XYLT-I polymorphisms may be linked to Type 1 diabetes. Since we have previously proposed that one of these polymorphisms was not associated with Type 1 diabetes (Schon S et al. Kidney Int 2005; 68: 1483-1490), larger-scale analysis is clearly necessary to pinpoint the significance of this mutation.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
XYLT1Humantype 1 diabetes mellitus  IAGP DNA:missense mutation more ...RGD 
Xylt1Rattype 1 diabetes mellitus  ISOXYLT1 (Homo sapiens)DNA:missense mutation more ...RGD 
Xylt1Mousetype 1 diabetes mellitus  ISOXYLT1 (Homo sapiens)DNA:missense mutation more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Xylt1  (xylosyltransferase 1)

Genes (Mus musculus)
Xylt1  (xylosyltransferase 1)

Genes (Homo sapiens)
XYLT1  (xylosyltransferase 1)


Additional Information