Exploring the relationship between genetics and immune response

Immunogenetics focuses on unraveling the relationship between genetic variations and immunological disorders and in understanding the genes involved in the immune system. Following the deciphering of the genetic code and the subsequent characterization of the common variants in the code, genetic risk factors that indicate predisposition to immunological disorders, such as rheumatoid arthritis, psoriasis, multiple sclerosis (MS), etc., were identified and studied further with the goal of developing potential prevention and treatment strategies.1,2,3 Human leukocyte antigen (HLA) controls the immune response genes and an association with HLA indicates the susceptibility of an individual toward to developing autoimmune diseases, such as MS. Genome-wide association studies (GWAS) have attempted to identify both HLA and non-HLA susceptibility loci associated with diseases. Since each of these loci harbor several candidate genes, understanding the role of each of these genes is complex and therefore requires advanced technologies and methods to address the challenge.

Next-generation sequencing (NGS) has accelerated the understanding of the individual contribution of candidate genes through its ability to focus on specific regions (targeted sequencing) and to elucidate the role of epigenetic modifications (methyl-seq or ChIP-seq). HLA sequencing using NGS has contributed significantly to the understanding of several autoimmune disorders, and is especially advantageous in avoiding ambiguous typing results through clonal sequencing of single DNA molecules.

Roche Sequencing Solutions provides superior target enrichment and library preparation techniques to address the complexity of immune disorders.

Workflow Step
Sample QC
KAPA hgDNA Quantification & QC Kits
  • Reliable quantification and quality assessment of low-input or FFPE samples to optimize library construction yields and workflows
Target Enrichment

SeqCap EZ Prime Choice Probes

Shared Design

SeqCap RNA Probes

SeqCap Epi Probes

HyperCap Workflow Products

  • Design Share contains pre-designed NGS panels
  • Ability to focus only on  the regions of interest
  • Integrated, streamlined workflow solution
Library Preparation

KAPA HyperPrep Kits

KAPA HTP/LTP Library Preparation Kits 

  • High-quality library construction from FFPE and challenging samples in less than 3 hours*
Library Amplification
KAPA Library Amplification Kit
  • Minimized PCR-induced bias of AT- and GC-rich library molecules for improved sequencing coverage
Library Quantification 
KAPA Library Quantification Kits
  • Accurate quantification of adapter-ligated molecules prior to sample pooling and cluster generation or template preparation for optimal sequencing results*


1.Messemaker et al. 2015. Immunogenetics of rheumatoid arthritis: understanding functional implications. J of Autoimmunity. 62, 74-81.

2.Harden et al. 2015. The immunogenetics of psoriasis: a comprehensive review. J of Autoimmunity. 64, 66-73.

3.Svejggard (2008). The immunogenetics of multiple sclerosis. Immunogenetics. 60(6), 275-86.


*Data on file.