Genetic polymorphisms and association of KIR-HLA system of Chinese Henan Han population and an extensive KIR gene diversity study between populations distributed worldwide

Abstract

// Hong-Dan Wang 1, 2 , Zhan-Qi Feng 3 , Yu-Xin Guo 1, 4, 5 , Tie-Niu Song 6 , Jiang-Wei Yan 7 , Xiao-Ye Jin 1, 4, 5 , Cai-Yong Yin 8 , Chun-Mei Shen 9 and Bo-Feng Zhu 1, 4, 5 1 Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of Stomatology, Xi’an Jiaotong University, Xi'an 710004, P. R. China 2 Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital, Zhengzhou University People's Hospital, Zhengzhou 450003, P. R. China 3 Department of Urology, The First People’s Hospital of Zhengzhou, Zhengzhou 450004, P. R. China 4 Clinical Research Center of Shaanxi Province for Dental and Maxillofacial Diseases, College of Stomatology, Xi’an Jiaotong University, Xi'an 710004, P. R. China 5 College of Forensic Science, Xi’an Jiaotong University Health Science Center, Xi’an Jiaotong University, Xi’an 710061, P. R. China 6 Department of Thoracic Surgery, Second Hospital of Lanzhou University, Lanzhou 730000, P. R. China 7 Key Laboratory of Genome Sciences, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, P. R. China 8 Department of Forensic Medicine, Nanjing Medical University, Nanjing 210029, P. R. China 9 Institute of Brain and Behavioral Sciences, College of Life Sciences, Shaanxi Normal University, Xi’an 710062, P. R. China Correspondence to: Bo-Feng Zhu, email: zhubofeng7372@126.com Keywords: KIR; HLA; Henan Han population; co-evolution; genetic polymorphisms Received: March 21, 2017      Accepted: December 05, 2017      Published: January 13, 2018 ABSTRACT Killer-cell immunoglobulin-like receptors are expressed on the plasma membrane of natural killer cells and a minority of T cells, which can regulate the killing function of these cells by interacting with their special ligands. The major ligands for them are the human leukocyte antigen class I molecules. Combinations of human leukocyte antigen class I molecules and Killer-cell immunoglobulin-like receptor variants contribute to the intensity of acquired immune, resistance to infections, susceptibility to autoimmune disorders, complications of pregnancy, cancers and so on. In order to reveal this appropriate functional interaction of these two markers, some previous studies have revealed the co-evolution of these two markers within and across populations in disease researches. To our knowledge, the polymorphism data of two markers of Henan Han population haven't yet been available to date. In this study, we obtained their allelic frequencies of the two markers, on this basis, we obtained 26 Killer-cell immunoglobulin-like receptor genotypes, the extensive Killer-cell immunoglobulin-like receptor gene diversity between populations distributed worldwide, and the frequencies of the estimated main human leukocyte antigen haplotypes. And we also conducted the correlation analysis to investigate population-level evidence for co-evolution of the two markers based on their frequencies and the receptor-ligand pairs. This present study could provide basic and valuable polymorphism data of the two markers and their combinations for anthropological analysis and associated disease studies. In addition, it may provide some valuable clues to the co-evolution of these two complex genetic systems based on the study of the two marker pairs.