Search for Coeliac Disease Susceptibility Loci on 7q11.23 Candidate Region: Absence of Association with the ELN17 Microsatellite Marker

Grillo, R.; Petronzelli, Fiorella; Mora, Barbara; Bonamico, Margherita; Mazzilli, Maria Cristina

doi:10.1159/000022911

Cited by 9 publications

(4 citation statements)

References 17 publications

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“…Furthermore, whereas some authors have not provided evidence of an association with CD and the ELN17 marker [30], our data suggest that WBS patients exhibit the DQA1*0505 allele more frequently that controls (56% vs. 39%; P < 0.05). The DQA1*0505 allele is similar to the DQA1*0501 allele of the DQ2.5 haplotype [31].…”

Section: Discussioncontrasting

confidence: 92%

Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome

et al. 2014

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BackgroundA higher prevalence of coeliac disease (CD) has been reported in patients with Williams-Beuren syndrome (WBS), though coexistence with other autoimmune diseases has not been evaluated.Objective: The aim of this study was to examine the prevalence of the more frequent autoimmune diseases and organ- and non-organ specific autoantibodies in WBS.MethodsWe longitudinally analysed 46 WBS patients to evaluate the prevalence and co-occurrence of the major autoantibodies and HLA typing for CD diagnosis. These data were compared with healthy age- and sex-matched controls and Down (DS) and Turner (TS) syndrome patients.ResultsCD was diagnosed in one (2.2%) WBS patient; this differed significantly from DS and TS (respectively, 10.5% and 9.4%; P < 0.005) but not from healthy controls (0.6%; P = NS). However, no patients with WBS showed anti-thyroid antibodies or other organ- and non-organ specific autoantibodies, which differed significantly from DS (respectively, 10.5% and 7.0%; P < 0.005) and TS (respectively, 9.4% and 9.3%; P < 0.005) patients but not from healthy controls (1.1% and 2.3%). The frequencies of CD-specific HLA-DQ heterodimers were not significantly higher than controls, even though the WBS patients more frequently carried the DQA1*0505 allele (57% vs. 39%; P < 0.05).ConclusionsCD may not be more frequent in patients with WBS. In fact, no evidence of a significantly higher prevalence of other autoimmune diseases or positivity of the main organ and non-organ specific autoantibodies was found in WBS, such as showed in the healthy controls and unlike by the patients with Turner or Down syndrome. This should prompt us to better understand the occurrence of CD in WBS. Other studies or longer follow-up might be useful to clarify this issue.

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Section: Discussioncontrasting

confidence: 92%

Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome

et al. 2014

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“…It is also notable that the pathogenic deletions described for Williams syndrome, a rare disease that has been reported in association with CD (Pankau et al 1993;Pittschieler et al 1993;Chiaravalloti et al 1995;Papadatou et al 1996), span the elastin gene at 7q11.23. However, no association to the elastin-gene marker was found in a recent study (Grillo et al 2000).…”

Section: Genomewide Linkage Analysis Was Performed With 60mentioning

confidence: 77%

Genomewide Linkage Analysis of Celiac Disease in Finnish Families

Juo

Holopainen

et al. 2002

The American Journal of Human Genetics

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Celiac disease (CD), or gluten-sensitive enteropathy, is a common multifactorial disorder resulting from intolerance to cereal prolamins. The only established genetic susceptibility factor is HLA-DQ, which appears to explain only part of the overall genetic risk. We performed a genomewide scan of CD in 60 Finnish families. In addition to strong evidence for linkage to the HLA region at 6p21.3 (Z(max)>5), suggestive evidence for linkage was found for six other chromosomal regions--1p36, 4p15, 5q31, 7q21, 9p21-23, and 16q12. We further analyzed the three most convincing regions--4p15, 5q31, and 7q21--by evaluation of dense marker arrays across each region and by analysis of an additional 38 families. Although multipoint analysis with dense markers provided supportive evidence (multipoint LOD scores 3.25 at 4p15, 1.49 at 5q31, and 1.04 at 7q21) for the initial findings, the additional 38 families did not strengthen evidence for linkage. The role that HLA-DQ plays was studied in more detail by analysis of DQB1 alleles in all 98 families. All but one patient carried one or two HLA-DQ risk alleles, and 65% of HLA-DQ2 carriers were affected. Our study indicates that the HLA region harbors a predominant CD-susceptibility locus in these Finnish families.

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“…We found no evidence of linkage was found. Other groups studying the aminopeptidase n gene (Giordano et al, 1999) and the ELN17 marker on 7q11.23 (Grillo et al, 2000) found no evidence of association. Tissue transglutaminase (tTG) in now known to be an autoantigen for anti-endomysial antibodies, which are raised in the serum of patients with CD.…”

Section: Non-hla Susceptibility Genesmentioning

confidence: 89%