Genetic predisposition to celiac disease in persons with Down syndrome in Northwestern Mexico

Celiac disease (CD) is an autoimmune enteropathy triggered by ingested gluten, with intra- and extra-gastrointestinal symptoms. Individuals with Down syndrome (DS) have a higher prevalence of autoimmune disorders, including CD. This study aimed to evaluate genetic predisposition (HLA haplotypes) and serological markers of CD in individuals with DS, from Northwestern Mexico.

Eighty-six participants with DS, 3-64 years of age, were included in the study. We assessed HLA-DQ2 and DQ8 haplotypes by duplex PCR and related symptoms, as well as IgG and IgA anti-gliadin antibodies, and IgA anti-tissue transglutaminase antibodies by an enzymatic immunoassay.

Most participants (98.8%) carried risk alleles, with 52.9% having HLA-DQ2 and 45.9% HLA-DQ8. IgG anti-gliadin antibodies were positive in 8.1% of participants. In comparison, 6.9% were positive for IgA anti-gliadin antibodies, and 9.3% had a positive index for IgA anti-tissue transglutaminase antibodies. Four participants (4.6%) presented full or partial HLA-DQ2/DQ8 haplotypes, positive indexes for IgA anti-gliadin, and anti-transglutaminase antibodies related to CD.

The study reveals an almost complete genetic predisposition to autoimmunity and a very high risk of CD in individuals with DS. Enhanced diagnostic protocols and ongoing monitoring are recommended to improve the management of CD in this vulnerable population.