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Learn · Variants · HLA-DQ2.5

rs2187668 HLA-DQ2.5

Strong genetic predisposition to celiac disease. HLA-DQ2.5 present in ~95% of celiac patients.

Curated · human-reviewed Health risk · Risk / effect allele: T · dbSNP

What is rs2187668?

rs2187668 is a single-nucleotide polymorphism (SNP) in the HLA-DQ2.5 gene (HLA-DQ2.5 haplotype). Each person carries two copies, one from each parent, so a result is reported as a pair of letters such as TT. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.

What does each rs2187668 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
TThighStrong genetic predisposition to celiac disease. HLA-DQ2.5 present in ~95% of celiac patients.93%
CT / TCelevatedCarrier of HLA-DQ2.5 variant; increased celiac disease susceptibility.90%
CCtypical / lowerLower genetic risk for celiac disease at this locus.88%

How common is the T allele of rs2187668?

Minor-allele frequency by population (gnomAD / 1000 Genomes):

European14.0%
East Asian1.0%
African5.0%
South Asian8.0%
Admixed American8.0%
Global8.0%

Is rs2187668 on 23andMe and AncestryDNA chips?

Yes — it is genotyped directly on 23andMe V3, 23andMe V4, 23andMe V5, AncestryDNA V1, AncestryDNA V2. Orviva reads it from a raw-data export without imputation.

Sources

Genetic associations describe risk across populations, not a diagnosis for any one person. Most variants shift risk modestly and act alongside lifestyle, environment and other genes. Consumer DNA chips do not read every position and can be wrong at any single one. For general education only; talk to a clinician or genetic counsellor before acting on anything here, and never change a prescribed medicine without your prescriber.