rs11322783

This is a frameshift variant in the IFNL4 gene.

Key Literature Trait Associations

Hepatitis C Treatment Response

This is the causal variant for IFNL4 function. The deltaG allele creates a functional IFNL4 protein that paradoxically impairs hepatitis C virus clearance by inducing interferon-stimulated gene expression and desensitizing the interferon signaling pathway. It is strongly linked with rs12979860 (IL28B) and explains the association between IL28B genotype and HCV treatment outcomes.

Gokhale MS et al. “Single low-dose rHuIL-12 safely triggers multilineage hematopoietic and immune-mediated effects.” Experimental Hematology & Oncology 3(1):11 (2014)

Allele deltaG

OR —

p 1.0e-25

Large GWAS

Gene information from NCBI Gene. Variant classifications from ClinVar.

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