HLA related genetic risk for coeliac disease

乳糜泻的 HLA 相关遗传风险

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作者:Mathieu Bourgey, Giuseppe Calcagno, Nadia Tinto, Daniela Gennarelli, Patricia Margaritte-Jeannin, Luigi Greco, Maria Giovanna Limongelli, Oscar Esposito, Caterina Marano, Riccardo Troncone, Antonella Spampanato, Françoise Clerget-Darpoux, Lucia Sacchetti

Background

Several studies have shown an elevated prevalence of coeliac disease (CD) in sibs of coeliac patients (risk 8-12%).

Conclusion

These results make it possible to provide more accurate information to parents with a child with CD about the real risk for another child. An antenatal estimate of the order of risk of CD is now possible. Specific follow-up can thus be offered for babies at high risk.

Results

The overall risk that a sib of a CD patient will develop the disease was estimated at 10% in this sample. The risk estimate ranged from 0.1% to 29% when HLA-DQ information of the proband, parents and sib was considered. We found a negligible risk (lower than 1%) for 40% of the sibs of probands, a risk greater than 1% but less than 10% for 30%, and finally a high or very high risk (above 25%) in one-third of families.

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