title: Genetic polymorphism and evolutionary differentiation of Eastern Chinese Han: a comprehensive and comparative analysis on KIRs.
abstract: Killer cell immunoglobulin-like receptor genes, namely KIRs, cluster together within the 160 kb genomic DNA region. In this study, we used PCR-SSP approach and successfully identified the genotype of 17 KIR genes in 123 independent healthy donors residing in the Jiangsu province, China. All individuals were positive at the 7 genes. The observed carrier gene frequencies (OFs) of remaining 10 KIRs ranged from 14.63% (KIR2DS3) to 95.93% (KIR3DL1). We found 27 distinct genotypes excluding KIR1D. The most frequent occurred in 63 individuals (51.22%). The linkage disequilibrium analysis signified 29 positive and 6 negative relations in 45 pairwise comparisons. To study population differentiation, we drew a Heatmap based on the data of KIRs from 59 populations and conducted Hierarchical Clustering by Euclidean distances. We next validated our results by estimating pairwise DAdistances and illustrating a Neighbor-Joining tree, as well as a MDS plot covering 3 additional Chinese Han groups. The phylogenetic reconstruction and cluster analysis strongly indicated a genetically close relationship between Eastern and Jilin Hans. In conclusion, the present study provided a meritorious resource of KIR genotyping for population genetics, and could be helpful to uncover the genetic mechanism of KIRs in immune disease in the future.
authors.affiliation: Department of Forensic Medicine, Nanjing Medical University, Nanjing, Jiangsu, 210029, China.
authors.forename: Caiyong
authors.initials: C
authors.lastname: Yin
authors.affiliation: Department of Forensic Medicine, Nanjing Medical University, Nanjing, Jiangsu, 210029, China.
authors.forename: Li
authors.initials: L
authors.lastname: Hu
authors.affiliation: Department of Forensic Medicine, Nanjing Medical University, Nanjing, Jiangsu, 210029, China.
authors.forename: Huijie
authors.initials: H
authors.lastname: Huang
authors.affiliation: Department of Forensic Medicine, Nanjing Medical University, Nanjing, Jiangsu, 210029, China.
authors.forename: Yanfang
authors.initials: Y
authors.lastname: Yu
authors.affiliation: Department of Forensic Medicine, Nanjing Medical University, Nanjing, Jiangsu, 210029, China.
authors.forename: Zheng
authors.initials: Z
authors.lastname: Li
authors.affiliation: Department of Forensic Medicine, Nanjing Medical University, Nanjing, Jiangsu, 210029, China.
authors.forename: Qiang
authors.initials: Q
authors.lastname: Ji
authors.affiliation: Department of Forensic Medicine, Nanjing Medical University, Nanjing, Jiangsu, 210029, China.
authors.forename: Xiaochao
authors.initials: X
authors.lastname: Kong
authors.affiliation: Department of Cardiology, Affiliated Hospital of Jiangsu University, Zhenjiang, Jiangsu 212001, China.
authors.forename: Zhongqun
authors.initials: Z
authors.lastname: Wang
authors.affiliation: Department of Cardiology, Affiliated Hospital of Jiangsu University, Zhenjiang, Jiangsu 212001, China.
authors.forename: Jinchuan
authors.initials: J
authors.lastname: Yan
authors.affiliation: CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China.
authors.forename: Jiangwei
authors.initials: J
authors.lastname: Yan
authors.affiliation: Department of Forensic Genetics, School of Forensic Medicine, Southern Medical University, Guangzhou 510515, P. R. China.|Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of Stomatology, Xi'an Jiaotong University, Xi'an, Shaanxi 710004, P. R. China.|Clinical Research Center of Shaanxi Province for Dental and Maxillofacial Diseases, College of Stomatology, Xi'an Jiaotong University, Xi'an, Shaanxi 710004, P. R. China.
authors.forename: Bofeng
authors.initials: B
authors.lastname: Zhu
authors.affiliation: Department of Forensic Medicine, Nanjing Medical University, Nanjing, Jiangsu, 210029, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Chen
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002681:China; D019143:Evolution, Molecular; D005787:Gene Frequency; D008040:Genetic Linkage; D005828:Genetics, Population; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D015810:Linkage Disequilibrium; D005810:Multigene Family; D010802:Phylogeny; D011110:Polymorphism, Genetic; D054340:Receptors, KIR / Q000235:genetics*
chemical_list: D054340:Receptors, KIR