Josué Lacerda de Souza, Marcus Vinitius de Farias Guerra, Tirza Gabrielle Ramos de Mesquita, José do Espírito Santo Junior, Hector David Graterol Sequera, Lener Santos da Silva, Larissa Almeida da Silva, Filipe Menezes Moura, Lizandra Stephanny Fernandes Menescal, Júlia da Costa Torres, Suzana Kanawati Pinheiro, Herllon Karllos Athaydes Kerr, Mauricio Morishi Ogusku, Mara Lúcia Gomes de Souza, Jose Pereira de Moura Neto, Aya Sadahiro, Rajendranath Ramasawmy
{"title":"亚马孙地区皮肤利什曼病患者的 Caspase-1 变异和血浆 IL-1β","authors":"Josué Lacerda de Souza, Marcus Vinitius de Farias Guerra, Tirza Gabrielle Ramos de Mesquita, José do Espírito Santo Junior, Hector David Graterol Sequera, Lener Santos da Silva, Larissa Almeida da Silva, Filipe Menezes Moura, Lizandra Stephanny Fernandes Menescal, Júlia da Costa Torres, Suzana Kanawati Pinheiro, Herllon Karllos Athaydes Kerr, Mauricio Morishi Ogusku, Mara Lúcia Gomes de Souza, Jose Pereira de Moura Neto, Aya Sadahiro, Rajendranath Ramasawmy","doi":"10.3390/ijms252212438","DOIUrl":null,"url":null,"abstract":"<p><p>Leishmaniasis, a disease caused by protozoan <i>Leishmania</i> spp., exhibits a broad range of clinical manifestations. Host resistance or susceptibility to infections is often influenced by the genetic make-up associated with natural immunity. Caspase-1, a key component of the NLRP3 inflammasome, is critical for processing pro-IL-1β into its active form, IL-1β, while CARD8 functions as an NLRP3 inflammasome inhibitor. We conducted a case-control study comparing <i>L. guyanensis</i>-cutaneous leishmaniasis (<i>Lg</i>-CL) patients with healthy individuals (HCs) by analyzing the <i>CASP1</i> genetic variants rs530537A>G, rs531542C>T, rs531604A>T and rs560880G>T. Additionally, a combined analysis of <i>CARD8</i>rs2043211A>T with <i>CASP1</i>rs530537 was performed. The genotype distribution for the four variants showed no significant differences between <i>Lg</i>-CL patients and HCs. However, the haplotype analysis of the four <i>CASP1</i> variants identified the GTTT haplotype as associated with a 19% decreased likelihood of <i>Lg</i>-CL development, suggesting a protective effect against disease progression. The combined analysis of <i>CARD8</i> with <i>CASP1</i> variants indicated that individuals homozygous for both variants (GG/TT) exhibited a 38% reduced risk of developing <i>Lg</i>-CL (OR = 0.62 [95%CI:0.46-0.83]) in comparison to individuals with other genotype combinations. No correlation was found between the CASP1 variant genotypes and plasma IL-1β levels. <i>CASP1</i> may act as a genetic modifier in <i>Lg</i>-CL.</p>","PeriodicalId":14156,"journal":{"name":"International Journal of Molecular Sciences","volume":"25 22","pages":""},"PeriodicalIF":5.6000,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Caspase-1 Variants and Plasma IL-1β in Patients with <i>Leishmania guyanensis</i> Cutaneous Leishmaniasis in the Amazonas.\",\"authors\":\"Josué Lacerda de Souza, Marcus Vinitius de Farias Guerra, Tirza Gabrielle Ramos de Mesquita, José do Espírito Santo Junior, Hector David Graterol Sequera, Lener Santos da Silva, Larissa Almeida da Silva, Filipe Menezes Moura, Lizandra Stephanny Fernandes Menescal, Júlia da Costa Torres, Suzana Kanawati Pinheiro, Herllon Karllos Athaydes Kerr, Mauricio Morishi Ogusku, Mara Lúcia Gomes de Souza, Jose Pereira de Moura Neto, Aya Sadahiro, Rajendranath Ramasawmy\",\"doi\":\"10.3390/ijms252212438\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Leishmaniasis, a disease caused by protozoan <i>Leishmania</i> spp., exhibits a broad range of clinical manifestations. Host resistance or susceptibility to infections is often influenced by the genetic make-up associated with natural immunity. Caspase-1, a key component of the NLRP3 inflammasome, is critical for processing pro-IL-1β into its active form, IL-1β, while CARD8 functions as an NLRP3 inflammasome inhibitor. We conducted a case-control study comparing <i>L. guyanensis</i>-cutaneous leishmaniasis (<i>Lg</i>-CL) patients with healthy individuals (HCs) by analyzing the <i>CASP1</i> genetic variants rs530537A>G, rs531542C>T, rs531604A>T and rs560880G>T. Additionally, a combined analysis of <i>CARD8</i>rs2043211A>T with <i>CASP1</i>rs530537 was performed. The genotype distribution for the four variants showed no significant differences between <i>Lg</i>-CL patients and HCs. However, the haplotype analysis of the four <i>CASP1</i> variants identified the GTTT haplotype as associated with a 19% decreased likelihood of <i>Lg</i>-CL development, suggesting a protective effect against disease progression. The combined analysis of <i>CARD8</i> with <i>CASP1</i> variants indicated that individuals homozygous for both variants (GG/TT) exhibited a 38% reduced risk of developing <i>Lg</i>-CL (OR = 0.62 [95%CI:0.46-0.83]) in comparison to individuals with other genotype combinations. 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Caspase-1 Variants and Plasma IL-1β in Patients with Leishmania guyanensis Cutaneous Leishmaniasis in the Amazonas.
Leishmaniasis, a disease caused by protozoan Leishmania spp., exhibits a broad range of clinical manifestations. Host resistance or susceptibility to infections is often influenced by the genetic make-up associated with natural immunity. Caspase-1, a key component of the NLRP3 inflammasome, is critical for processing pro-IL-1β into its active form, IL-1β, while CARD8 functions as an NLRP3 inflammasome inhibitor. We conducted a case-control study comparing L. guyanensis-cutaneous leishmaniasis (Lg-CL) patients with healthy individuals (HCs) by analyzing the CASP1 genetic variants rs530537A>G, rs531542C>T, rs531604A>T and rs560880G>T. Additionally, a combined analysis of CARD8rs2043211A>T with CASP1rs530537 was performed. The genotype distribution for the four variants showed no significant differences between Lg-CL patients and HCs. However, the haplotype analysis of the four CASP1 variants identified the GTTT haplotype as associated with a 19% decreased likelihood of Lg-CL development, suggesting a protective effect against disease progression. The combined analysis of CARD8 with CASP1 variants indicated that individuals homozygous for both variants (GG/TT) exhibited a 38% reduced risk of developing Lg-CL (OR = 0.62 [95%CI:0.46-0.83]) in comparison to individuals with other genotype combinations. No correlation was found between the CASP1 variant genotypes and plasma IL-1β levels. CASP1 may act as a genetic modifier in Lg-CL.
期刊介绍:
The International Journal of Molecular Sciences (ISSN 1422-0067) provides an advanced forum for chemistry, molecular physics (chemical physics and physical chemistry) and molecular biology. It publishes research articles, reviews, communications and short notes. Our aim is to encourage scientists to publish their theoretical and experimental results in as much detail as possible. Therefore, there is no restriction on the length of the papers or the number of electronics supplementary files. For articles with computational results, the full experimental details must be provided so that the results can be reproduced. Electronic files regarding the full details of the calculation and experimental procedure, if unable to be published in a normal way, can be deposited as supplementary material (including animated pictures, videos, interactive Excel sheets, software executables and others).