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IDDM7 links to insulin‐dependent diabetes mellitus in Danish multiplex families but linkage is not explained by novel polymorphisms in the candidate gene GALNT3
Author(s) -
Kristiansen Ole P.,
Pociot Flemming,
Bennett Eric P.,
Clausen Henrik,
Johannesen Jesper,
Nerup Jørn,
MandrupPoulsen Thomas
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(200003)15:3<295::aid-humu16>3.0.co;2-5
Subject(s) - linkage disequilibrium , biology , genetics , haplotype , genetic linkage , locus (genetics) , single nucleotide polymorphism , allele , gene , genotype
The insulin‐dependent diabetes mellitus (IDDM) susceptibility locus IDDM7 on 2q31 links to IDDM in some but not other populations. Linkage of D2S152 , the marker for IDDM7 , has hitherto not been demonstrated in Danish patients. GALNT3 that encodes the UDP‐GalNAc: polypeptide N‐acetyl‐galactosaminyltransferase‐T3 (GalNAc‐T3), was recently identified and mapped to a region 5‐25 cM from D2S152 . The GalNAc transferases may play a role in immune mediated diseases by glycosylating autoantigens. Hence, the aims of the present study were to investigate by means of extended transmission disequilibrium testing (ETDT) and transmission disequilibrium testing (TDT) of the marker for IDDM7 , D2S152 , the marker for GALNT3 , D2S2363 , and novel polymorphisms identified through mutation screening of the entire GALNT3 for linkage with IDDM in 241 Danish IDDM multiplex families. ETDT analysis demonstrated linkage between IDDM and D2S152 (P ETDT =0.034). A prevalent T→A polymorphism, T284A, was found in the GALNT3 3′UTR. Analysis of the D2S2363 and the T284A GALNT3 transmission patterns did not show linkage to IDDM in Danish patients (P ETDT =0.15 and P TDT =0.76, respectively). In conclusion, IDDM7 ( D2S152 ) links to IDDM in Danish patients, but D2S2363 and the identified T284A polymorphism in the GALNT3 3′UTR did not. Hence, it is unlikely that the GALNT3 is an IDDM susceptibility gene. Hum Mutat 15:295–296, 2000. © 2000 Wiley‐Liss, Inc.