studies

HEPATOLOGY, VOLUME 62, NUMBER 1 (SUPPL) AASLD ABSTRACTS 363A
297
Impact of SNP rs2187668 in HLA-DQA1 on clinical
presentation and treatment response in patients with
type-1 autoimmune hepatitis
Albert Stättermayer 1 , Michael Eder 1 , Sandra Beinhardt 1 , Karin
Kozbial 1 , Clarissa Freissmuth 1 , Friedrich Wrba 2 , Michael Trauner 1 ,
Peter Ferenci 1 , Harald Hofer 1 ; 1 Gastroenterology & Hepatology,
Medical University of Vienna, Vienna, Austria; 2 Clinical Pathology,
Medical University of Vienna, Vienna, Austria
Background/aim: Autoimmune hepatitis (AIH) is a chronic
inflammatory liver disease with limited understanding of etiopathogenesis.
Recently, a genome-wide association study
(GWAS) identified a single nucleotide polymorphism (SNP,
rs2187668) in the HLA-DQA1 gene, which is strongly associated
with AIH type-1. We evaluated the impact of this SNP on
clinical presentation and treatment response in patients with
type-1 AIH. Methods: One-hundred and seven patients with
type-1 AIH (female: 83 [77.6%], mean age: 43.2 [CI95%:
39.9-46.6] years), who reached a probable or definite score
according to the simplified or revised scoring system were evaluated.
SNP rs2187668 was investigated by real-time-PCR in
all patients with AIH and in a control group of 97 healthy
subjects. Results: Sixty-one (57.0%) patients with AIH had
rs2187668 genotype GG, 39 (36.4%) were heterozygous
and 7 (6.5%) had genotype AA. Minor allele frequency (MAF)
of the risk allele (A) was 24.8% and was significantly higher
than in the control group (MAF: 7.2%; p150 vs.