Genetic prediction of type 1 diabetes in a population with low frequency of HLA risk genotypes and low incidence of the disease (the DIABFIN study)

Background To develop a sensitive, specific screening strategy for predicting genetic risk for type 1 diabetes mellitus (T1DM) in the low‐incidence continental Italian population, and to define with this tool, a cohort of high‐to‐moderate risk infants for an immunological follow‐up study aimed at id...

Full description

Saved in:
Bibliographic Details
Published in:Diabetes/metabolism research and reviews 2004-03, Vol.20 (2), p.137-143
Main Authors: Buzzetti, R., Galgani, A., Petrone, A., Del Buono, M. L., Erlich, H. A., Bugawan, T. L., Lorini, R., Meschi, F., Multari, G., Pozzilli, P., Locatelli, M., Bottazzo, G., Di Mario, U.
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Case-Control Studies
Chi-Square Distribution
Diabetes Mellitus, Type 1 - epidemiology
Diabetes Mellitus, Type 1 - genetics
Diabetes Mellitus, Type 1 - immunology
Diabetes. Impaired glucose tolerance
Endocrine pancreas. Apud cells (diseases)
Endocrinopathies
Etiopathogenesis. Screening. Investigations. Target tissue resistance
Female
Genetic Markers
Genetic Predisposition to Disease - epidemiology
Genetic Testing
genetics
genotype frequency
Histocompatibility Testing
HLA class II alleles
HLA-DQ Antigens - genetics
HLA-DQ beta-Chains
HLA-DR Antigens - genetics
HLA-DRB1 Chains
Humans
Incidence
Infant, Newborn
Italy - epidemiology
Male
Medical sciences
newborn screening
prediction
risk estimation
Risk Factors
sensitivity
specificity
Statistics, Nonparametric
type 1 diabetes
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Background To develop a sensitive, specific screening strategy for predicting genetic risk for type 1 diabetes mellitus (T1DM) in the low‐incidence continental Italian population, and to define with this tool, a cohort of high‐to‐moderate risk infants for an immunological follow‐up study aimed at identifying environmental risk factors for T1DM. Methods 4855 newborns in three regions of continental Italy were screened for T1DM HLA‐DRB1‐DQB1 risk genotypes using a reverse line blot typing method. Risk classification was based on odds ratios (OR) found in a preliminary case–control study (356 T1DM patients, 412 controls). Screening efficiency was optimized by allele subtyping. Results Screening for well‐known T1DM susceptibility genotypes [DRB1*03/*04‐DQB1*0302; DRB1*03/*03; DRB1*04/*04‐DQB1*0302; DRB1*04‐DQB1*0302/X where X ≠ DRB1*03, DRB1*04‐DQB1*0302, DQB1*0602 or DQB1*0603] was associated with
ISSN:1520-7552
1520-7560
DOI:10.1002/dmrr.426