HLA Genotyping: Methods for the Identification of the HLA-DQ2,-DQ8 Heterodimers Implicated in Celiac Disease (CD) Susceptibility.

In this chapter we will present the principal technical methods to genotype the HLA-DQA1* and -DQB1* alleles associated with celiac disease (CD), corresponding to the serological heterodimers HLA-DQ2 and -DQ8. We will present the methods specific for the genotyping of these heterodimers, which represents a common request from consultant doctors. Because these alleles are also common in healthy subjects, their presence is not diagnostic for CD.

Association of HLA class I markers with multiple sclerosis in the Italian and UK population: evidence of two independent protective effects.

Background: The association of HLA A*02 with multiple sclerosis (MS) was recently confirmed by the authors, and it was observed that the combined presence of HLA Cw*05 significantly enhanced (threefold) the protective effect of HLA A*02.

Objectives And Methods: Since A*02-Cw*05 is carried by two HLA extended haplotypes characterised by the B*4402 and B*1801 alleles, respectively, the association analysis was extended to HLA B*44 and B*18 in an Italian sample (1445 MS cases and 973 controls) and these associations were verified in a UK cohort (721 MS cases, 408 controls and 480 family trios).

Results: A strong protective effect, independent of DR15, of the A*02-Cw*05 combination carrying B*44 (OR 0.

Association of the CBLB gene with multiple sclerosis: new evidence from a replication study in an Italian population.

Background: The T allele of rs9657904 within the CBLB gene was recently found to be significantly associated with multiple sclerosis (MS) in a genome-wide association study in Sardinia.

Objective: To replicate this association in an independent population with a different genetic background.

Methods: The rs9657904 variant was typed in a sample of 1435 cases and 1466 controls from the Italian mainland.

Cytokine gene polymorphisms in hepatitis C virus-related oral lichen planus.

Cytokine polymorphisms may influence both the risk of developing oral lichen planus (OLP) and the outcome of hepatitis C virus (HCV)-infected patients and OLP has been frequently associated with HCV infection. The aim of the present study was to analyse whether cytokine polymorphisms may influence the susceptibility to HCV-related OLP. Thirty-five patients with OLP and chronic HCV infection (OLP-HCV+ve) took part in the study.

Prognostic values of soluble CD30 and CD30 gene polymorphisms in heart transplantation.

Pretransplant soluble CD30 (sCD30) is a predictor of kidney graft outcome. Its status as a predictor of heart transplant (HT) outcome has not been established. We have studied this question by assessing sCD30 levels and the number of (CCAT)n repeats of the microsatellite in the CD30 promoter region, which is able alone to repress gene transcription, in the sera of 83 HT patients and 77 of their donors.

HLA-DRB1 genotyping in Italian migraine patients.

We examined the distribution of HLA-DRB1 alleles in a cohort 255 Italian migraine patients and in a control group of 325 healthy subjects. 214 patients fulfilled the ICHD-II criteria for migraine without aura and 41 patients the criteria for migraine with aura. The frequency of DRB1*16 allele was found to be significantly increased in migraine without aura patients (p=0.

Tumor necrosis factor-alpha and interferon-gamma polymorphisms contribute to susceptibility to oral lichen planus.

Most lymphocytes in the lamina propria of oral lichen planus (OLP) lesions express and secrete interferon-gamma (IFN-gamma) and tumor necrosis factor-alpha (TNF-alpha), whereas they do not secret interleukin-4 and -10 or transforming growth factor-beta. We analyzed whether the polymorphisms of several cytokines may influence the susceptibility to OLP. Cytokine typing was performed by a sequence-specific PCR assay.