title: NKG2C copy number variations in five distinct populations in mainland China and susceptibility to nasopharyngeal carcinoma (NPC).
abstract: In this study, copy number variation (CNV) of NKG2C gene was investigated in 1129 normal, unrelated individuals representing two southern Chinese Han populations (Hunan Han and Guangdong Han), two northern Chinese populations (Inner Mongolia Han and Inner Mongolia Mongol) and one southeastern Chinese Han population (Fujian Han) using polymerase chain reaction-sequence-specific priming (PCR-SSP) method. CNV of NKG2C gene did not vary significantly among the five Chinese populations, with NKG2C gene deletion showing a frequency ranging from 0.2031 to 0.2688. Compared with worldwide ethnic groups, very significant difference was observed between the five Chinese populations and the Mexican mestizos (all Pcorrected=0.0025), and between the Fujian Han population and the German population (Pcorrected=0.005). We further examined CNV of NKG2C and HLA-E allelic distribution in 653 patients afflicted with nasopharyngeal carcinoma (NPC) in Hunan province. Neither CNV of NKG2C nor HLA-E was associated with NPC. There was a trend of reduced NPC risk in individuals who were homozygous for both HLA-E(∗)01:03 and NKG2C deletion (0.46% vs. 2.51%, P=0.0076, Pcorrected=0.0684, OR (95% CI)=0.1794 (0.0473-0.6809)). Taken together, our results suggest that NKG2C deletion and HLA-E signalling pathway does not play a major role in determining genetic susceptibility to NPC.
authors: Immunogenetics Research Group, Department of Immunology, College of Basic Medical Sciences, Central South University, Changsha, Hunan, People's Republic of China.
authors: LiXin
authors: L
authors: Li
authors: Immunogenetics Research Group, Department of Immunology, College of Basic Medical Sciences, Central South University, Changsha, Hunan, People's Republic of China. Electronic address: tianwei3@yahoo.com.
authors: Wei
authors: W
authors: Tian
authors: Immunogenetics Research Group, Department of Immunology, College of Basic Medical Sciences, Central South University, Changsha, Hunan, People's Republic of China.
authors: WenYi
authors: W
authors: Wang
authors: Department of Nuclear Medicine, Hunan Cancer Hospital, The Affiliated Cancer Hospital of XiangYa Medical School of Central South University, Changsha, Hunan 410006, People's Republic of China.
authors: KangLong
authors: K
authors: Liu
authors: Department of Laboratory Medicine, The 5th Hospital of Zhangzhou City, Zhangzhou, Fujian, People's Republic of China.
authors: JunLong
authors: J
authors: Wang
authors: Department of Radiotherapy, Hunan Cancer Hospital, The Affiliated Cancer Hospital of XiangYa Medical School of Central South University, Changsha, Hunan 410006, People's Republic of China.
authors: HeKun
authors: H
authors: Jin
authors: Immunogenetics Research Group, Department of Immunology, College of Basic Medical Sciences, Central South University, Changsha, Hunan, People's Republic of China.
authors: JinHong
authors: J
authors: Cai
authors: Immunogenetics Research Group, Department of Immunology, College of Basic Medical Sciences, Central South University, Changsha, Hunan, People's Republic of China; Eight-Year Medical Educational Program, Central South University, School of Medicine, Changsha, Hunan, People's Republic of China.
authors: JunJie
authors: J
authors: Wang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002277:Carcinoma; D002681:China; D056915:DNA Copy Number Variations; D004252:DNA Mutational Analysis; D005006:Ethnicity; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D055654:NK Cell Lectin-Like Receptor Subfamily C / Q000235:genetics*; D000077274:Nasopharyngeal Carcinoma; D009303:Nasopharyngeal Neoplasms / Q000235:genetics / Q000276:immunology*; D017384:Sequence Deletion / Q000235:genetics; D055815:Young Adult; D000097625:HLA-E Antigens
chemical_list: D015395:Histocompatibility Antigens Class I; D055654:NK Cell Lectin-Like Receptor Subfamily C; D000097625:HLA-E Antigens; C527059:KLRC2 protein, human
keywords: Chinese population; Copy number variation; HLA-E; NKG2C; Nasopharyngeal carcinoma