Distribution of Killer-cell Immunoglobulin-like Receptors (KIR) and their HLA Class I Ligands in the Bulgarian Population

Varbanova, V.; Mihailova, Snezhina; Naumova, Elissaveta; Mihaylova, Anastasiya

doi:10.7546/crabs.2020.07.14

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“…Furthermore, both alleles within the association were found in comparable frequencies in our studied group (4.1% and 3.7%, respectively). In a similar manner, KIR2DS2 and KIR2DL2 are described to be in strong linkage disequilibrium including in the Bulgarian population, 68 and are usually expected to be expressed together. 69 The absence of both KIR2DS2 and KIR2DL2 was found in a similar percentage in our studied group (43.7% and 40.6%, respectively), which might also suggest a common haplotype association.…”

Section: Discussionmentioning

confidence: 89%

“…Although, it is important to mention that KIR haplotype distribution has been previously studied in the Bulgarian population by applying a low-resolution typing technique (PCR-SSP). 68 In the above-mentioned study, among healthy Bulgarians, was described a prevalence of homozygous KIR A (AA) inhibitory genotype. Additionally, KIR haplotype distribution among Bulgarians has been previously investigated within the 15th and 16th IHWS in the context of healthy aging processes.…”

Section: Discussionmentioning

confidence: 99%

“…Two frequent and strong associations were observed in our studied group that were not previously described: the linkage between KIR2DL3*00501 and KIR2DL1*00101 alleles ( D ′ = 1.00, R 2 = 0.742), and KIR2DS2*Abs with KIR2DL2*Abs ( D ′ = 0.90, R 2 = 0.81). Based on a previous study in the Bulgarian population 68 where the inhibitory KIR A haplotype was described as predominant, it could be hypothesized that the observed KIR2DL3*00501 ‐ KIR2DL1*00101 association might be part of a common for the population haplotype. Furthermore, both alleles within the association were found in comparable frequencies in our studied group (4.1% and 3.7%, respectively).…”

Section: Discussionmentioning

confidence: 99%

“…Applying a different methodology might address this problem more effectively in our future studies. Although, it is important to mention that KIR haplotype distribution has been previously studied in the Bulgarian population by applying a low‐resolution typing technique (PCR‐SSP) 68 . In the above‐mentioned study, among healthy Bulgarians, was described a prevalence of homozygous KIR A (AA) inhibitory genotype.…”

Section: Discussionmentioning

confidence: 99%

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High‐resolution characterization of KIR genes polymorphism in healthy subjects from the Bulgarian population—A pilot study

Al Hadra,

Lukanov,

Mihaylova

et al. 2024

HLA

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Although killer‐cell immunoglobulin‐like receptor (KIR) gene content has been widely studied in health and disease, with the advancement of next‐generation sequencing (NGS) technology the high‐resolution characterization of this complex gene region has become achievable. KIR allele‐level diversity has lately been described across human populations. The present study aimed to analyze for the first time the allele‐level polymorphism of nine KIR genes in 155 healthy, unrelated individuals from the Bulgarian population by applying NGS. The highest degree of polymorphism was detected for the KIR3DL3 gene with 40 observed alleles at five‐digit resolution in total, 22 of which were common. On the other hand, the KIR3DS1 gene was found to have the lowest degree of polymorphism among the studied KIR genes with one common allele: KIR3DS1*01301 (31.6%). To better understand KIR allelic associations and patterns in Bulgarians, we have estimated the pairwise linkage disequilibrium (LD) for the 10 KIR loci, where KIR2DL3*00501 allele was found in strong LD with KIR2DL1*00101 (D′ = 1.00, R2 = 0.742). This is the first study investigating KIR polymorphism at the allele level in a population from the South‐East European region. Considering the effect of the populationally shaped KIR allelic polymorphism on NK cell function, this data could lead to a better understanding of the genetic heterogeneity of this region and can be carried into clinical practice by improvement of the strategies taken for NK‐mediated diseases.

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Section: Discussionmentioning

confidence: 89%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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