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HLA-DQ genetic risk gradient for type 1 diabetes and celiac disease in northwestern Mexico

M E Mejía-León1, K M Ruiz-Dyck1, A M Calderón de la Barca1

  • 1Coordinación de Nutrición y Metabolismo, Centro de Investigación en Alimentación y Desarrollo, A.C., Hermosillo, Sonora, México.

Revista De Gastroenterologia De Mexico
|June 20, 2015
PubMed

Insights

Type 1 diabetes (T1D) and celiac disease (CD) share genetic origins. Sonoran newborns show distinct HLA-DQ allele frequencies, with specific HLA-DQ8 combinations increasing T1D and CD risk, and 7% of T1D children having CD autoimmunity.

Area of Science:

  • Immunogenetics
  • Pediatric Autoimmune Diseases
  • Population Genetics

Background:

  • Type 1 diabetes (T1D) and celiac disease (CD) are common childhood autoimmune disorders.
  • Both T1D and CD share the HLA-DQ2 and HLA-DQ8 genetic predisposition.
  • Increasing global incidence of T1D and CD necessitates understanding regional genetic risks.

Purpose of the Study:

  • Determine HLA-DQ allele frequencies in Sonoran newborns.
  • Compare allele frequencies with T1D and CD patient cohorts to establish risk gradients.
  • Investigate the prevalence of celiac autoimmunity in children with T1D.

Main Methods:

  • Genotyping of HLA-DQ2 and HLA-DQ8 alleles using PCR-SSP in 397 newborns, 44 T1D cases, and 25 CD cases.
  • Clinical diagnosis of T1D and CD by specialists, with autoantibody determination via ELISA.
  • Calculation of risk gradients by comparing allele frequencies between patient groups and the newborn population.

Main Results:

  • Sonoran newborns exhibit a 16.1% frequency for HLA-DQ2 and 13.6% for HLA-DQ8.
  • The DQ8/DQ2 genotype indicates a 1:14 risk for T1D, while DQ8/DQB1*0201 shows a 1:6 risk for CD.
  • A 7% prevalence of celiac disease autoimmunity was observed in children diagnosed with T1D.

Conclusions:

  • The Sonoran population possesses a unique HLA-DQ allele distribution influenced by ancestry.
  • Specific HLA-DQ8 and DQ2 allele combinations significantly elevate the risk for both T1D and CD.
  • Co-occurrence of T1D and CD is common, highlighting shared genetic pathways.
Abstract

Keywords:
Celiac diseaseDiabetes tipo 1Enfermedad celíacaHLA-DQ2HLA-DQ8MexicoMéxicoType 1 diabetes

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