Immunogenetics pp 549-568 | Cite as

Cytokine Gene Polymorphisms: Methods of Detection and Biological Significance

  • Gurvinder Kaur
  • Narinder Mehra
Part of the Methods in Molecular Biology book series (MIMB, volume 882)


In recent years, several functional polymorphisms, particularly, SNPs have been identified in cytokines and their receptor genes that regulate levels of cytokine expression. These have been implicated as immune prognostic markers in diseases, including differential response to therapy and as biomarkers of graft outcome following organ and stem cell transplantation. Population distribution of cytokine gene polymorphisms (CGPs) reveals significant variations in allele frequencies in different ethnic groups and this might explain, to some extent, the observed differences in SNP associations with various diseases and immune-pathologies. A number of molecular methods are available for defining CGPs. These include PCR-SSP, AFLP, Taqman probe assays as well as sequencing based typing. Of these, the PCR-based sequence-specific primer based test is the most widely accepted technique. This chapter describes steps involved in this procedure along with sources for procuring essential reagents. An important aspect of CGP analyses is the correct interpretation of results particularly determination of their multilocus haplotypes.

Key words

Cytokinesm Single nucleotide polymorphisms PCR Population diversity SSP primers 



The authors acknowledge Joannis Mytilineos and his team for developing the Cytokine genotyping reagents and the CTS group at Univ Heidelberg for kindly providing these on regular basis. The financial support provided by the Indian Council of Medical Research (ICMR) and Department of Biotechnology (DBT), Govt. of India are gratefully acknowledged. The laboratory members, particularly Neeraj Kumar, Chowphi Rapthap, Gaurav Sharma, and Shekhar Neolia are acknowledged for optimizing the above procedures.


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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  1. 1.Department of Transplant Immunology and ImmunogeneticsAll India Institute of Medical SciencesNew DelhiIndia

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