HLA-C alleles are divided into two groups—HLA-C alleleC1 and C2—based on the amino acid present at position 80. C1 alleles contain asparagine (Asn), while C2 alleles contain lysine (Lys). Accordingly, individuals may carry one of three possible genotypes: C1C1, C1C2, or C2C2.
HLA-C1 and HLA-C2 function as ligands for specific activating or inhibitory KIR (Killer-cell Immunoglobulin-like Receptors) expressed on NK cells. Certain combinations of KIR and HLA-C genotypes are associated with susceptibility to infectious and autoimmune diseases.
Elevated frequencies of maternal KIR AA genotype paired with paternal HLA-C2 have been reported in patients with preeclampsia and recurrent pregnancy loss. Additionally, an individual’s HLA-C group genotype can influence NK cell function depending on which KIRs are co-expressed.
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Next Generation Sequencing (NGS)