Abstract

Killer Cell Immunoglobulin-like Receptors (KIR) have been used as good markers for the study of genetic predisposition in many diseases and in human genetic population dynamics. In this context, we have investigated the genetic diversity of KIR genes and their main HLA class I ligands in Saudi population and compared the data with other studies of neighboring populations. One hundred and fourteen randomly selected healthy Saudi subjects were genotyped for the presence or absence of 16 KIR genes and their HLA-C1, -C2, -Bw4Thr80 and Bw4Ile80 groups, using a PCR-SSP technique. The results show the occurrence of the framework genes (3DL2, 3DL3 and 2DL4) and the pseudogenes (2DP1 and 3DP1) at highest frequencies. All inhibitory KIR (iKIR) genes appeared at higher frequencies than activating genes (aKIR), except for 2DS4 with a frequency of 90.35%. A total of 55 different genotypes were observed appearing at different frequencies, where 12 are considered novel. Two haplotypes were characterized, AA and Bx (BB and AB), which were observed in 24.5% and 75.5% respectively of the studied group. The frequencies of iKIR + HLA associations were found to be much higher than aKIR + HLA. KIR genes frequencies in the Saudi population are comparable with other Middle Eastern and North African populations.

Highlights

  • Natural killer (NK) cells are considered the first line of defense of the innate immune response against both infected and malignantly transformed cells

  • One common family of receptors are called killer cell immunoglobulin-like receptors (KIR) expressed by natural killer cells and a subset of T cells, are glycoproteins playing an important role in innate cytotoxic activity

  • The aim of this work is to contribute to the assessment of the pattern of genetic diversity in 114 healthy Saudi subjects based on the genetic polymorphism of the KIR genes

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Summary

Introduction

Natural killer (NK) cells are considered the first line of defense of the innate immune response against both infected and malignantly transformed cells. They act through their cytotoxic activity or by the production of a panel of cytokines. One common family of receptors are called killer cell immunoglobulin-like receptors (KIR) expressed by natural killer cells and a subset of T cells, are glycoproteins playing an important role in innate cytotoxic activity.

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