Association of JAK-STAT pathway related genes with XXXX risk: results of a European case-control study (EpiLymph).

@entity4635 @entity8850 @entity706 @entity5 @entity4104 @entity4206 @entity1892 @entity73045 @entity379 @entity10669 @entity6897 @entity73046 @entity11715 @entity978
Previous studies have suggested an important role for the Janus kinase-signal transducer and activator of transcription (JAK-STAT) signalling pathway in @entity5 development. Therefore, we explored genetic variants in JAK-STAT pathway associated genes with @entity706 risk. In samples of the EpiLymph case-control study we genotyped 1536 single nucleotide polymorphisms (SNPs) using GoldenGate BeadArray    Technology (Illumina, San Diego, CA, USA). Here, we report the associations between selected SNPs and haplotypes of the JAK-STAT pathway and risk of @entity978 ( @entity978 ), @entity1892 ( @entity1892 ) and most frequent @entity1892 subtypes. Among 210 relevant JAK-STAT pathway-related SNPs, polymorphisms in nine genes (BMF, @entity379 , @entity10669 , @entity4635 , @entity6897 , @entity4104 , @entity11715 , @entity8850 , @entity4206 ) were significantly associated with @entity706 risk. At a study-wise significance level, we obtained a risk reduction of 28% among carriers of the heterozygous genotype of the @entity4104 variant ( @entity73045 ) for @entity1892 . For six other variants within the @entity4104 gene we observed an inverse association with @entity706 subtypes. A reduced risk for @entity978 was observed for the heterozygous genotype of the @entity8850 SNP ( @entity73046 ). This is an explorative investigation to examine associations between JAK-STAT signalling related genes and @entity706 risk. The results implicate a relevant role of certain pathway-related genes in lymphomagenesis, but still need to be approved by independent studies.
