ANALISYS OF COMPLEMENT RECEPTOR 1 HAPLOTYPES IN ARGENTINEANS

TRUCCO BOGGIONE, CAROLINA; D´ATTILIO, LUCIANO; MUFARREGE, NICOLÁS; FERNANDEZ, ROCÍO; PRINCIPI, CINTIA; DÍAZ, ARIANA; LUJÁN BRAJOVICH, MELINA ELIANA; MATTALONI, STELLA MARIS; GARDEÑEZ, WALTER; BAY, MARÍA LUISA; COTORRUELO, CARLOS

Rosario

Congreso; XX Congreso y XXXVIII Reunión Anual de la Sociedad de Biología de Rosario 2018; 2018

Sociedad de Biología de Rosario

The human Complement Receptor 1 (CR1) is a membrane glycoprotein found in the majority of peripheral blood cells, especially erythrocytes and macrophages. CR1 mediates clearance of immune complexes and phagocytosis of complement-opsonized particles. Five SNPs have been described in the CR1 gene. One SNP located in intron 27 is responsible for CR1 expression levels on erythrocytes. The other four SPNs occur in exon 29 of CR1 gene and generate Knop´s blood antigens (Kna/Knb, McCa/McCb, Sl1/Sl2 y KCAM+/-). Since CR1 polymorphism has been associated to protective effects in several infectious diseases and because, Tuberculosis (TB) is the first cause of worldwide death produced by microorganism, the Mycobacterium tuberculosis (Mtb), the aim of this work was to establish CR1 haplotypes in DNA samples from donors (D) and TB patients. The five SNPs were studied by PCR RFLP strategies in 122 D and 40 TB samples. The haplotypic and allelic frequencies were calculated using the Arlequin® v3.5.2.2 software. Molecular analyses identified the following haplotypes in the D group: H-Kna-McCa-Sl1-KCAM+ (Freq: 0.760), L-Kna-McCa-Sl1-KCAM+ (Freq: 0.189), H-Kna-McCa-Sl2-KCAM+ (Freq: 0.016), L-Kna-McCa-Sl2-KCAM+ (Freq: 0.008), H-Kna-McCb-Sl1-KCAM+ (Freq: 0.004) and L-Kna-McCb-Sl2-KCAM+ (Freq: 0.004). On the other hand, in TB group the only haplotypes identified were: H-Kna-McCa-Sl1-KCAM+ (Freq: 0.724) and L-Kna-McCa-Sl1-KCAM+ (Freq: 0.275). The allelic frequencies detected for both groups were: H (D=0.784, TB=0.725), L (D=0.202, TB=0.275), Kna (D=0.999, TB=0.999), McCa (D=0.992, TB=0.999), McCb (D=0.008, TB=0.001), Sl1 (D=0.971, TB=0.999), Sl2 (D=0.029, TB=0.001), KCAM+ (D=0.999, TB=0.999). Although no significant differences were observed in the haplotypic and allelic frequencies between D and TB, haplotypes containing the SNPs McCb and Sl2 were only identified in D group. This preliminary data suggests that these polymorphisms could be involved in the susceptibility to infection by Mtb, considering they were not detected in the TB group.