HLA-Cw0409N is associated with HLA-A2301 and HLA-B4403-carrying haplotypes

• Published in: Human immunology 2004-02, Vol.65 (2), p.181-187
• Main Authors: Pinto, C, Smith, A.G, Larsen, C.E, Fernández-Viña, M, Husain, Z, Clavijo, O.P, Wang, Z.C, Nisperos, B, Hansen, J.A, Alper, C.A, Yunis, E.J
• Format: Article
• Language: English
• Subjects: allele frequency; Alleles; Cell Line; Complement System Proteins - genetics; Cw0409N; DNA - chemistry; DNA - genetics; DNA - isolation & purification; European Continental Ancestry Group - genetics; Gene Frequency - genetics; Haplotypes - genetics; Heterozygote; Histocompatibility Antigens Class I - genetics; HLA null allele; HLA-A Antigens - genetics; HLA-B Antigens - genetics; HLA-B44 Antigen; HLA-C Antigens - genetics; Homozygote; Humans; Leukocytes, Mononuclear - cytology; Leukocytes, Mononuclear - metabolism; major histocompatibility complex; Phenotype; Polymerase Chain Reaction; polymorphism (genetics); Polymorphism, Genetic - genetics; Sequence Analysis, DNA; United States
• ISSN: 0198-8859; 1879-1166
• DOI: 10.1016/j.humimm.2003.11.001

The associations of HLA-B*4402 and HLA-B*4403 with alleles of HLA-A and HLA-Cw were investigated in panels of HLA-B*4403 and HLA-B*4402 homozygous individuals and in selected individuals carrying HLA-Cw*04 and HLA-B*4403. Some of these individuals were genotyped and also carried (HLA-DRB1*0701, DQB1*02). Among the latter, we studied individuals carrying the conserved extended haplotype (CEH) [HLA-Cw*04, B*4403, FC31, DRB1*0701, DQB1*02]. Four different common (HLA-Cw*, B*44) haplotypes were identified that extended to the HLA-A locus: HLA-A*0201, Cw*0501, B*4402; HLA-A*2902, Cw*1601, B*4403; HLA-A*2301, Cw*0401, B*4403; and HLA-A*2301, Cw*0409N, B*4403. We identified eight unrelated examples of the allele HLA-Cw*0409N. HLA-A*2301 was associated with both HLA-Cw*0401 and HLA-Cw*0409N, suggesting that HLA-Cw*0409N may have arisen from a mutation in a CEH. We estimate that approximately 2 to 5 in 1000 Caucasian individuals carry the allele HLA-Cw*0409N, making it one of the most frequent null HLA alleles known to date. Our findings demonstrate the first example of three different HLA-Cw-determined subtypes of a common or CEH carrying a shared HLA-B allele, in this case HLA-B*4403.