ABSTRACT
In recent years, some genome-wide association studies have identified several single
nucleotide polymorphisms (SNPs) associated with hepatitis C viral containment, treatment
response, and disease progression. IL28B is a gene on chromosome 19, coding for interferon-λ3, and two polymorphisms upstream
of this the gene have been strongly associated with clinical outcomes after treatment
for the hepatitis C virus (HCV). The IL28B polymorphisms have additionally been associated with spontaneous clearance. The mechanism
has yet to be clearly defined, but appears to involve differential responsiveness
to interferon signaling between the favorable and unfavorable genotypes. ITPA is a gene on chromosome 20, coding for inosine triphosphatase, and polymorphisms
on this gene have been associated with ribavirin-induced hemolytic anemia. Functional
variants of ITPA have been identified that have decreased enzymatic activity, which appear to protect
against anemia. Finally, PNPLA3 polymorphisms were initially described as predictors of nonalcoholic fatty liver
disease, but have recently been associated with disease progression in HCV.
KEYWORDS
Hepatitis C - IL28B - IFNλ - PNPLA3 - ITPA
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Esperance A.K. SchaeferM.D. M.P.H.
GI Unit, Massachusetts General Hospital, Harvard Medical School
55 Fruit Street, Boston, MA 02114
eMail: eschaefer@partners.org
