Linked Life Data

2101347

Source:http://linkedlifedata.com/resource/pubmed/id/2101347

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1991-9-9
pubmed:abstractText
This study was carried out in Sardinia, an Italian region with a very high IDDM incidence. HLA class I and class II antigens were studied in 97 unrelated IDDM patients, 33 complete families with at least one affected member each, and 559 healthy controls. Molecular typing of the DQB1 alleles was carried out in 31 patients and 61 controls. The haplotypes were determined by family studies. The HLA-DR3, DQw2, and DR4 antigens were positively associated with IDDM. The DR3 antigen was nearly always associated to B18 and frequently carried by the extended haplotype A30 Cw5 B18 3F130 DR3 DQw2. The genotype analysis of the patients showed a strong increase of the DR3/DR4 heterozygotes with a relative risk higher than that of the DR3 and DR4 homozygotes. The DR2 antigen was negatively associated with IDDM in the central island districts but not in the southern districts. The DQB1 molecular analysis showed only three alleles in the patients: DQB1*0201 (75.8 per cent), DQB1*0302 (16.1 per cent), and DQB1*0502 (8.1 per cent). These alleles are non Asp 57, so it would seem that nearly if not all Sardinian IDDM patients are NA/NA homozygotes. The DQB1*0502 allele, extremely rare in other Caucasian populations, represents in Sardinia about 70 per cent of the HLA-DR2 haplotypes, contributing to the increase of the pool of IDDM susceptible genes. Moreover it is carried in 27 per cent of the DR2 positive individuals with the extended haplotype A2 Cw7 Bw58 3F31 DR2 DQw1.AZH.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0278-0240
pubmed:author
pubmed:issnType
Print
pubmed:volume
8
pubmed:geneSymbol
DQB1*0201, DQB1*0301, DQB1*0302, DQB1*0303, DQB1*0401, DQB1*0402, DQB1*0501, DQB1*0502, DQB1*0503, DQB1*0602
pubmed:owner
NLM
pubmed:authorsComplete
N
pubmed:pagination
333-40
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:articleTitle
Serological and molecular studies of HLA in insulin-dependent diabetes mellitus in Sardinia.
pubmed:affiliation
Istituto di Clinica Medica, Cattedra di Genetica Medica, Università di Cagliari, Italy.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't