HLA gene differences between PSC/UC versus UC alone

[Guest guest]

It has long been known that PSC is associated with certain genetic

variants of the major histocompatibility complex human leukocyte

antigen (HLA) class II region. But since UC susceptibility is also

associated with genetic variants in this region, it's not known

whether the PSC gene variants are distinct from those associated with

UC alone. This study concludes that they are different.

Genes Immun. 2007 Feb 15; [Epub ahead of print]

Different HLA class II associations in ulcerative colitis patients

with and without primary sclerosing cholangitis.

Karlsen TH, Boberg KM, Vatn M, Bergquist A, Hampe J, Schrumpf E,

Thorsby E, Schreiber S, Lie BA.

Medical Department, Rikshospitalet-Radiumhospitalet Medical Center

and University of Oslo, Oslo, Norway; Institute of Immunology,

Rikshospitalet-Radiumhospitalet Medical Center and University of

Oslo, Oslo, Norway.

Approximately 80% of patients with primary sclerosing cholangitis

(PSC) of Northern European origin have inflammatory bowel disease

(IBD), the majority ulcerative colitis (UC). An inherent problem in

interpreting positive findings in genetic association studies of PSC

is thus to distinguish between factors associated with hepatobiliary

versus intestinal pathology. We aimed to clarify to what extent human

leukocyte antigen (HLA) class II associations in UC patients with and

without PSC differ. High-resolution DRB1 and DQB1 typing was

performed in 365 Scandinavian PSC patients, an independent cohort of

330 Norwegian UC patients and 368 healthy controls. HLA associations

found in PSC were mostly distinct from those seen in UC, and no

significant differences were noted between PSC patients with

concurrent UC and PSC patients without IBD. This suggests different

HLA associated genetic susceptibility to PSC and UC, and supports

notions that UC in PSC may represent a distinct UC phenotype. PMID:

17301827.

Best regards,

Dave

(father of (21); PSC 07/03; UC 08/03)