Killer cell immunoglobulin‐like receptor gene diversity in a Caucasian population of Southern Brazil

Jobim, Mariana; Salim, Patrícia Hartstein; Portela, Pâmela; Wilson, Timothy J.; Fraportti, J; Baronio, Diego; Gil, Beatriz Chamun; Penna, Larissa Siqueira; Roesler, Rafaël; Jobim, Luiz Fernando Job; Schwartsmann, Gilberto

doi:10.1111/j.1744-313x.2009.00894.x

Cited by 16 publications

(10 citation statements)

References 48 publications

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“…In the present study, we examined the distribution of HLA-B, HLA-C, and KIR genes in TB and/or HIVinfected patients and investigated the putative role of these genes in the occurrence of TB/HIV-IRIS. The individuals included in the present study had their HLA-B, HLA-C, and KIR genes determined, and the frequency data observed corroborated what has been described for the HIV-1-infected population [12,69] and the general Brazilian population [70][71][72][73][74][75]. HLA-B*08 and female gender were associated with protection against TB onset in the studied population.…”

Section: Discussionsupporting

confidence: 87%

Clinical and genetic markers associated with tuberculosis, HIV-1 infection, and TB/HIV-immune reconstitution inflammatory syndrome outcomes

et al. 2020

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Background: Tuberculosis (TB) and AIDS are the leading causes of infectious disease death worldwide. In some TB-HIV co-infected individuals treated for both diseases simultaneously, a pathological inflammatory reaction termed immune reconstitution inflammatory syndrome (IRIS) may occur. The risk factors for IRIS are not fully defined. We investigated the association of HLA-B, HLA-C, and KIR genotypes with TB, HIV-1 infection, and IRIS onset. Methods: Patients were divided into four groups: Group 1-TB+/HIV+ (n = 88; 11 of them with IRIS), Group 2-HIV+ (n = 24), Group 3-TB+ (n = 24) and Group 4-healthy volunteers (n = 26). Patients were followed up at INI/FIOCRUZ and HGNI (Rio de Janeiro/Brazil) from 2006 to 2016. The HLA-B and HLA-C loci were typed using SBT, NGS, and KIR genes by PCR-SSP. Unconditional logistic regression models were performed for Protection/risk estimation. Results: Among the individuals with TB as the outcome, KIR2DS2 was associated with increased risk for TB onset (aOR = 2.39, P = 0.04), whereas HLA-B*08 and female gender were associated with protection against TB onset (aOR = 0.23, P = 0.03, and aOR = 0.33, P = 0.01, respectively). Not carrying KIR2DL3 (aOR = 0.18, P = 0.03) and carrying HLA-C*07 (aOR = 0.32, P = 0.04) were associated with protection against TB onset among HIV-infected patients. An increased risk for IRIS onset was associated with having a CD8 count ≤500 cells/mm 3 (aOR = 18.23, P = 0.016); carrying the KIR2DS2 gene (aOR = 27.22, P = 0.032), the HLA-B*41 allele (aOR = 68.84, P = 0.033), the KIR2DS1 + HLA-C2 pair (aOR = 28.58, P = 0.024); and not carrying the KIR2DL3 + HLA-C1/C2 pair (aOR = 43.04, P = 0.034), and the KIR2DL1 + HLA-C1/C2 pair (aOR = 43.04, P = 0.034), Conclusions: These results suggest the participation of these genes in the immunopathogenic mechanisms related to the conditions studied. This is the first study demonstrating an association of HLA-B*41, KIR2DS2, and KIR + HLA-C pairs with IRIS onset among TB-HIV co-infected individuals.

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Section: Discussionsupporting

confidence: 87%

Clinical and genetic markers associated with tuberculosis, HIV-1 infection, and TB/HIV-immune reconstitution inflammatory syndrome outcomes

et al. 2020

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“…Molecular technique defining the KIR gene content of individuals, mainly based on PCR‐SSP, was well established. The distributions of KIR2DS4 gene in the patients with syphilis and healthy controls were 95.26% and 97.40%, respectively, which were similar with the previous report (90–100%) (Jobim et al. , 2010).…”

Section: Discussionsupporting

confidence: 90%

Association of KIR2DS4 and its variant KIR1D with syphilis in a Chinese Han population

Zhuang¹,

Zhu²,

Zhang³

et al. 2011

Int J Immunogenetics

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Syphilis is a sexually transmitted infection caused by the Treponema pallidum subspecies pallidum spirochaete bacterium. The killer immunoglobulin-like receptor (KIR) gene family encodes cell surface receptors that are found on natural killer (NK) cells and certain T-cell subsets. NK cells are fast-acting effector lymphocytes of innate immunity that respond to infection. The activity of NK cells depends on the dynamic balance of activating and inhibitory signals that are transmitted through respective receptors including KIRs. KIR2DS4 is the only activating KIR gene in KIR haplotype A. KIR1D is a partial deletion KIR2DS4 variant encoding protein devoid of transmembrane region. Up to now, there is no knowledge of association of KIR2DS4 and its variant KIR1D with syphilis in a population that belongs to KIR gene haplotype A. Polymerase chain reaction with sequence-specific primers (PCR-SSP) method was used to genotype KIR genes in 190 patients with syphilis and 192 healthy controls. The gene frequencies of KIR2DS4 and KIR1D were analysed for the association with syphilis in patients and healthy controls who belong to KIR gene haplotype A. The gene frequency of KIR1D/KIR1D in patients with syphilis classified as haplotype A was 16.85% and was significantly higher than that in the control group (6.59%) (P = 0.032). However, there was no significant difference for the gene frequencies of KIR2DS4/KIR2DS4 and KIR2DS4/KIR1D between the two groups (P > 0.05). KIR1D/KIR1D was found in association with susceptibility to syphilis in the Chinese Han population that belongs to KIR gene haplotype A.

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“…Sixteen KIR genes were detected in 152 Drung individuals by sequence-specific PCR. As previously noted, genes encoding activating KIR are more variably distributed in comparison to genes encoding inhibitory KIR (14)(15)(16)(17)(18)(19). Indeed, the frequencies for genes encoding inhibitory KIR were generally higher than those for genes encoding activating KIR, with the exception of KIR2DL2.…”

Section: Discussionmentioning

confidence: 62%

“…In comparison to other populations, KIR genes are characteristically distributed in the Drung population because of polygamy and strong geographic and racial segregation. Indeed, as KIR genotypes are widely variable and polymorphic , analysis of KIR genes enables racial and ethnic tracing and assessment of the genetic relationship among geographically distinct populations . Although the distribution of KIR genes may reflect founder effects, and may suggest that the Drung probably descended from very few ancestors, ancestral origins remain uncertain.…”

Section: Discussionmentioning

confidence: 99%

Diversity of killer cell immunoglobulin‐like receptor genes in Drung Chinese

Jiang

Su²,

Yang³

et al. 2016

HLA

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Killer cell immunoglobulin-like receptor (KIR) genes are variably distributed among populations from distinct geographic areas and ethnic origins. We describe, for the first time, KIR gene diversity in 152 unrelated and healthy Drung individuals, as measured by sequence-specific polymerase chain reaction. All 16 known KIR genes were detected. Of these, the framework genes KIR2DL4, 3DL2, 3DL3, and 3DP1 were present in all individuals as expected, along with the non-framework genes KIR2DL1, 2DL3, and 2DP1. In contrast, KIR2DL2, 2DS2, and 2DS5 were unusually rare, suggesting that KIR gene distribution was relatively concentrated. Ten different KIR genotypes were found, of which the most common consisted of nine genes (KIR2DL1, 2DL3, 2DL4, 2DS4, 3DL1, 3DL2, 3DL3, 2DP1, and 3DP1) and accounted for 66.4% of participants. There were eight different haplotypes present, of which the A haplotype was the most common (81.9%). Principal components and dendrogram analysis confirmed that the Drung Chinese are most closely related to the Japanese, the Zhejiang Han, and the Yunnan Han. In conclusion, distinctive frequencies of KIR genes, haplotypes, and genotypes are observed in Chinese Drung.

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Killer cell immunoglobulin‐like receptor gene diversity in a Caucasian population of Southern Brazil

Cited by 16 publications

References 48 publications

Clinical and genetic markers associated with tuberculosis, HIV-1 infection, and TB/HIV-immune reconstitution inflammatory syndrome outcomes

Clinical and genetic markers associated with tuberculosis, HIV-1 infection, and TB/HIV-immune reconstitution inflammatory syndrome outcomes

Association of KIR2DS4 and its variant KIR1D with syphilis in a Chinese Han population

Diversity of killer cell immunoglobulin‐like receptor genes in Drung Chinese

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