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Background . Recent GWAS in primary biliary cholangitis (PBC) showed strong associations with SNPs located within interleukin-12 receptor (IL12R) beta-2  (IL12RB2)  gene.  Aims . We assessed whether genetic variation of  IL12RB2  is associated with laboratory and clinical features of PBC.  Methods . Genomic DNA was isolated from 306 patients with PBC and 258 age/gender-matched controls. PBC-specific anti-mitochondrial antibodies (AMA) were tested in all subjects by ELISA. Two SNPs, rs3790567 and rs6679356, of  IL12RB2  were genotyped using the MGB-TaqMan SNP assay.  Results . Despite comparable age at diagnosis of cirrhotic and noncirrhotic PBC patients, allele A of rs3790567 and allele C of rs6679356 were overrepresented in the former rather than the latter group ( p  = 0.0009 and  p  = 0.002, resp.). The risk of cirrhosis at presentation increased when allele A and allele C coexisted. AMA-M2 titres were significantly higher in AA homozygotes of rs3790567 compared to GG homozygotes (132 ± 54 versus 103 ± 62,  p  = 0.02) and in rs6679356 when C allele was present ( p  = 0.038). There were no other significant associations between  IL12RB2  polymorphisms and laboratory or clinical features.  Conclusion . In this first study analyzing phenotypic features of PBC carriers of the  IL12RB2  polymorphisms, we found that carriers are more frequently cirrhotic at diagnosis and have significantly higher titres of AMA.

Polymorphisms of IL12RB2 May Affect the Natural History of Primary Biliary Cholangitis: A Single Centre Study