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Titolo:
GENETIC AND IMMUNOLOGICAL FINDINGS IN PATIENTS WITH NEWLY-DIAGNOSED INSULIN-DEPENDENT DIABETES-MELLITUS
Autore:
KOCKUM I; LERNMARK A; DAHLQUIST G; FALORNI A; HAGOPIAN WA; LANDINOLSSON M; LI LC; LUTHMAN H; PALMER JP; SANJEEVI CB; SUNDKVIST G; OSTMAN J;
Indirizzi:
UNIV WASHINGTON,RH WILLIAMS LAB,DEPT MED,BOX 357710 SEATTLE WA 98195 UNIV WASHINGTON,RH WILLIAMS LAB,DEPT MED SEATTLE WA 98195 KAROLINSKA INST,DEPT MOL MED STOCKHOLM SWEDEN UMEA UNIV,DEPT EPIDEMIOL & PUBL HLTH UMEA SWEDEN UMEA UNIV,DEPT PAEDIAT UMEA SWEDEN LUND UNIV,DEPT MED LUND SWEDEN KAROLINSKA INST,HUDDINGE HOSP,DEPT MED S-14186 HUDDINGE SWEDEN
Titolo Testata:
Hormone and Metabolic Research
fascicolo: 7, volume: 28, anno: 1996,
pagine: 344 - 347
SICI:
0018-5043(1996)28:7<344:GAIFIP>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
ACID DECARBOXYLASE GAD65; ISLET-CELL; HLA-DQ; SUSCEPTIBILITY; ONSET; IDDM; AUTOANTIBODIES; LOCUS; AGE; MINISATELLITE;
Keywords:
IDDM; HLA; ICA; ANTI-GAD;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
29
Recensione:
Indirizzi per estratti:
Citazione:
I. Kockum et al., "GENETIC AND IMMUNOLOGICAL FINDINGS IN PATIENTS WITH NEWLY-DIAGNOSED INSULIN-DEPENDENT DIABETES-MELLITUS", Hormone and Metabolic Research, 28(7), 1996, pp. 344-347

Abstract

Two large population-based case-control studies are reviewed. The aimis to determine the effects of HLA, other genetic factors and immune markers (ICA, IAA and GAD65Ab) on the age at onset of insulin-dependent diabetes mellitus (IDDM) in 0-34 year olds. The primary HLA risk gene sequence for IDDM was difficult to identify because of the low recombination frequency within the HLA region. The frequency of the DR3-DQA10501-DQB1*0201 haplotype and the DR3-DQA1*0501-DQB1*0201 (DQ2)/DR4-DQA10301-DQB1*0302 (DQ8) genotype were higher among patients diagnosedbefore the age of 10 compared with those diagnosed after the age of 30. The negatively associated haplotype, DR15-DQA10102-DQB1*0602 was absent before the age of 10, but the frequency increased with increasing age at onset. The IDDM2 gene representing the variable number of tandem repeat (VNTR) sequences and 5' of the insulin gene on chromosome 11 were associated with IDDM since homozygous short VNTR was positive but not homozygous, and heterozygous long VNTR was negatively associated with the disease. The diagnostic sensitivity and specificity of GAD65 (GA65Ab) and insulin (IAA) autoantibodies varied with the age at onset and gender. GAD65Ab had the highest sensitivity (> 80%) in patientsolder than 20 years of age with no difference in gender. The lowest sensitivity (54%) was in 0-10 year old boys, while age did not affect the sensitivity in girls. In contrast, the sensitivity of IAA was highest (46%) before the age of 15 but decreased thereafter as did the sensitivity for ICA. Classification of patients who develop IDDM above 20-25 years of age was inadequate since many patients classified with NIDDM either had GAD65Ab or ICA or developed these antibodies after 1-2 years of NIDDM. We conclude that not only age but also gender affect the risk for IDDM associated with HLA, other IDDM genes as well as commonly used immunological markers for IDDM.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/11/20 alle ore 04:04:59