HLA supratypes in an Italian population

D’Alfonso, Sandra; Cappello, N.; Borelli, I; Mazzola, Gina; Peruccio, D.; Giordano, Mara; Cascino, Isabella; Tosi, Roberto; Richiardi, P.

doi:10.1007/bf00188614

Cited by 10 publications

(10 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Among the alleles at the other tested loci known to be carried by the B8‐DR3 extended haplotype (13,25), DRB3*0101, TNFa2 and MOGc‐148 were also preferentially transmitted to the patients (OR > 1), but did not reach statistical significance (Table 3, Fig. 2A); conversely, D6S265‐126 and D6S2223‐172 showed the same frequency in DR3‐T and DR3‐NT haplotypes.…”

Section: Resultsmentioning

confidence: 94%

“…In contrast with markers of the B8‐DR3 haplotype, alleles and allele combinations characterizing the B18‐DR3‐extended haplotype (namely DRB3*0202, TNFa1, MICA‐A4, MICB‐CA14, MIB326; 13,14,24), were less frequently present in DR3‐T vs DR3‐NT haplotypes, thus reducing the CD risk conferred by DR3/DQ2 (Table 4). These results did not reach statistical significance because of the low number of B18‐DR3 haplotypes conserved telomeric of DRB3 (13).…”

Section: Resultsmentioning

confidence: 99%

“…In fact, while in northern Europe the B8‐DR3 is by far the most frequent if not the only DR3‐extended haplotype, in the Italian population two DR3‐extended haplotypes, namely B8‐DR3 and B18‐DR3, or haplotype fragments derived from them as a consequence of historical recombinations, are found with approximately the same frequency. These two DR3‐extended haplotypes share the DQB1*02, DQA1*05 and DRB1*03 alleles but differ at most other loci (13,14). Thus the power of a point‐to‐point analysis of the markers in the DR3 haplotypes should be higher in Italian families.…”

mentioning

confidence: 99%

See 2 more Smart Citations

Additional factor in some HLA DR3/DQ2 haplotypes confers a fourfold increased genetic risk of celiac disease

et al. 2003

View full text Add to dashboard Cite

Although HLA-DQ genes are the major celiac disease (CD) susceptibility genes, results from Finnish families suggest that not all DQ2-encoding haplotypes confer equal susceptibility to CD, implying the effect of other gene(s) in the HLA region. The aim of the present work was to extend and confirm the aforementioned results in a southern European population ( Italian) and to better localize the additional risk factor/s. The association of nine loci spanning the HLA region from DR to HFE, 4.5-Mb telomeric of HLA-A, was tested. The analysis was performed by comparing marker frequencies in DR3-DQ2 haplotypes transmitted and non-transmitted to the affected offspring in 156 Italian CD families selected for having at least one DR3-positive parent. The same analysis was performed independently in 101 Finnish CD families selected with the same criteria. Three alleles, MICA-A5.1, MICB-CA24 and MIB-350, all characteristic of the B8-DR3 extended haplotype, showed a significantly increased frequency in DR3 transmitted haplotypes in the Italian families. DR3 haplotypes carrying the combination of these alleles conferred an approximate fourfold increased CD risk. B8-DR3 transmitted haplotypes were significantly more conserved telomerically down to the MIC-Class I region. Similar results were seen in the Finnish families. The major conclusion that holds true in both populations is that, while DQ2 is an absolute requirement for the development of CD, the presence of an additional genetic factor within the MIC-Class I region confers an approximate 4-fold increased risk of the disease.

show abstract

Section: Resultsmentioning

confidence: 94%

Section: Resultsmentioning

confidence: 99%

mentioning

confidence: 99%

See 1 more Smart Citation

Additional factor in some HLA DR3/DQ2 haplotypes confers a fourfold increased genetic risk of celiac disease

et al. 2003

View full text Add to dashboard Cite

show abstract

“…Lacking direct information from family data, which were available only for CCHB mothers, haplotypes were deduced from population data following a commonly used procedure (29,30). For example, first, we calculated associations of DRB1 alleles with alleles at DQA1 and DQB1 loci in the control population.…”

Section: Methodsmentioning

confidence: 99%

DNA typing of maternal HLA in congenital complete heart block: Comparison with systemic lupus erythematosus and primary Sj�gren's syndrome

Colombo

Brucato

Coluccio

et al. 1999

Arthritis & Rheumatism

View full text Add to dashboard Cite

Objective. To investigate which maternal HLA allele or haplotype is primarily associated with isolated congenital complete heart block (CCHB) in offspring.Methods. HLA class II typings were assessed by line probe assay and polymerase chain reactionsequence-specific oligonucleotide probe methods, and HLA class I by the microlymphocytotoxicity test, in 13 Results. HLA-DRB1*03011 and DRB1*03011; DQA1*0501;DQB1*0201 were more frequent in mothers of infants with CCHB than in mothers who had SLE, but not in mothers who had SS and whose children were healthy. Mothers of infants with CCHB were either HLA-B5/35, B17, or B44 positive and had a higher prevalence of B44;DRB11;DQA1*0501;DQB1*0301 and isolated anti-52-kd antibodies, which were absent in SS and SLE controls.Conclusion. Mothers of infants with CCHB presented a strong genetic similarity to mothers who had SS, except for HLA class I phenotype. HLA-DRB1*03011;DQA1*0501;DQB1*0201 seemed not to be primary CCHB-associated genes, but were involved in an SS-like anti-Ro/La response. The combined presence of HLA-DRB1*03011 and anti-52-kd SSA/Ro antibodies conveyed the highest risk of giving birth to an affected child.

show abstract

“…(4)), linkage disequilibria between DWDQ and DP loci HLA-DP loci appear generally to be weak (5) or even absent (4,6). Several studies have reported on DPA1-DPBl linkage in Caucasian populations (7)(8)(9) and phenotypic DP combinations have been described as factors associated with particular infections in Ah5cans (10,11). Most earlier studies on HLA DPAl and DPBl alleles have focused on two DPAl alleles only, namely DPA1*0103 (previously DPAl*Ol) and DPA1*0201 (DPA1*02).…”

mentioning

confidence: 99%

HLA DPA1/DPB1 genotype and haplotype frequencies, and linkage disequilibria in Nigeria, Liberia, and Gabon

et al. 1998

View full text Add to dashboard Cite

The frequencies of DPA1 and DPB1 alleles and their occurrence in haplotypic linkage were assessed and compared in Nigerian, Liberian, and Gabonese individuals. Differences were seen in the distribution patterns; these differences were more pronounced between the Gabonese and the other two populations than between Liberians and Nigerians. Several haplotypic DPA1-DPB1 combinations could be verified by homozygosity. Linkage disequilibria of DPA1-DPB1 combinations, indicating further probable haplotypes, were estimated. Although different allele and haplotype frequencies were recognized in the three subgroups, the linkage disequilibria were mostly either positive or negative in all populations.

show abstract

HLA supratypes in an Italian population

Cited by 10 publications

References 14 publications

Additional factor in some HLA DR3/DQ2 haplotypes confers a fourfold increased genetic risk of celiac disease

Additional factor in some HLA DR3/DQ2 haplotypes confers a fourfold increased genetic risk of celiac disease

DNA typing of maternal HLA in congenital complete heart block: Comparison with systemic lupus erythematosus and primary Sj�gren's syndrome

HLA DPA1/DPB1 genotype and haplotype frequencies, and linkage disequilibria in Nigeria, Liberia, and Gabon

Contact Info

Product

Resources

About