Analysis of Interleukin-10 polymorphic variants in Pakistani population

  • MS Afzal
  • S Tahir
  • A Salman
  • T Shafi
  • T Ahmed
  • F Rasheed
  • I Qadri
Keywords: IL-10, polymorphism, ethnicity


Interleukin-10 (IL-10) is a Th2 cytokine that down regulates the Th1 cytokine, functions as immunosupressor for innate arm of the immune system and plays a significant role in a wide range of human diseases. IL-10 plasma levels vary inter-individually and three-quarters of this variability is contributed by genetic factors. For analysis of pattern of inheritance of IL-10 polymorphism in Pakista, 419 individuals were enrolled. In this study, investigation of promoter polymorphism (AF295024.1:c.- 1082 G>A, AF295024.1:c.-819 C>T, AF295024.1:c.-592 C>A) was performed by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). Results show that heterozygous genotypes AF295024.1:c.-1082 G>A (84%), AF295024.1:c.-819 C>T (86%), and AF295024.1:c.–592 C>A (86%) at all studied loci were the major genotypes inherited in Pakistan. Four haplotypes AF295024.1:c. [-1082 G>A; -819 C>T; -592 C>A] [G; C; C], [G; T; A], [A; C; C], [A; T; A] were found in proportion of 43.7, 9.9, 3.7 5 and 43%, respectively. The haplotype [G; T; A] had been reported previously only from China. Nine different diplotypes were identified and [G; C; C/A; T; A] (73.5 %) was the major player. Results were compared with other published reports from different ethnic groups which suggest that ethnic differences influence the pattern of inheritance of IL-10 polymorphism in a significant way. This difference in inheritance pattern based on ethnicity may contribute to human diseases outcomes.

Key words: IL-10, polymorphism, ethnicity.