Haplotype block 1 variant (HB-1v) of the NKG2 family of receptors |
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Authors: | Wendy Guadalupe Vazquez-Gonzalez Julio Cesar Martinez-Alvarez Araceli Arrazola-Garcia Martha Perez-Rodriguez |
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Institution: | 1. Unidad de Investigación Médica en Inmunología, Hospital de Pediatría Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Cuauhtémoc 330, Col. Doctores, CP 06720 Ciudad de México, Mexico;2. Banco Central de Sangre, Hospital de Especialidades Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Cuauhtémoc 330, Col. Doctores, CP 06720 Ciudad de México, Mexico |
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Abstract: | The natural killer group 2 (NKG2) family of receptors, encoded within the NK complex gene region (NKC), modulate the cytotoxic activity of NK cells. Two haplotype blocks throughout the NKC, hb-1 and hb-2 have been associated with different levels of overall natural cytotoxicity. Here, we evaluated allelic and genotype frequencies at rs1049174, rs2617160, rs2617170, rs2617171, rs1983526 (hb-1 haplotype), and rs2255336 and rs2246809 (hb-2 haplotype) in 928 subjects examined from Mexico City. The most frequent alleles and genotypes were as follows: C, CG to rs1049174; G, GG to rs2255336; T, AT to rs2617160; G, GG to rs2246809; C, CT to rs2617170; G, CG to rs2617171; and G, CG to rs1983526. Linkage disequilibrium analysis revealed that rs1049174, rs2617160, rs2617170, and rs2617171 constituted the haplotype block-1 variant (hb-1v) (r2 ≥ 0.89). Two predominant haplotypes of hb-1v were identified based on the allele content and included CTCG and GATC. This study is the first to evaluate the allelic and genotype frequency distribution of rs1049174, rs2255336, rs2617160, rs2246809, rs2617170, rs2617171, and rs1983526 in the population of Mexico City. |
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Keywords: | Corresponding author at: Unidad de Investigación Médica en Inmunología Hospital de Pediatría 3er Piso CMN S-XXI IMSS Cuauhtémoc 330 Col Doctores CP 06720 Ciudad de México Mexico NKG2 Receptors Frequency Haplotype |
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