Faculty Opinions recommendation of The IL-17A rs2275913 single nucleotide polymorphism is associated with protection to tuberculosis but related to higher disease severity in Argentina.

Sepsis is a life-threatening condition and a significant challenge for those working in intensive care, where it remains one of the leading causes of mortality. According to the sepsis-3 definition, sepsis is characterized by dysregulation of the host response to infection. The TREM-1 gene codes for the triggering receptor expressed on myeloid cells 1, which is part of the pro-inflammatory response of the immune system. This study aimed to determine whether the functional TREM-1 rs2234237 single nucleotide polymorphism was associated with mortality in a cohort of 649 Caucasian patients with sepsis. The 90-day mortality rate was the primary outcome, and disease severity and microbiological findings were analyzed as secondary endpoints. TREM-1 rs2234237 TT homozygous patients were compared to A-allele carriers for this purpose. Kaplan–Meier survival analysis revealed no association between the clinically relevant TREM-1 rs2234237 single nucleotide polymorphism and the 90-day or 28-day survival rate in this group of septic patients. In addition, the performed analyses of disease severity and the microbiological findings did not show significant differences between the TREM-1 rs2234237 genotypes. The TREM-1 rs2234237 genotype was not significantly associated with sepsis mortality and sepsis disease severity. Therefore, it was not a valuable prognostic marker for the survival of septic patients in the studied cohort.

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The Non-synonymous rs763780 Single-Nucleotide Polymorphism in IL17F Gene Is Associated With Susceptibility to Tuberculosis and Advanced Disease Severity in Argentina

Frontiers in Immunology ◽

10.3389/fimmu.2019.02248 ◽

2019 ◽

Vol 10 ◽

Cited By ~ 2

Author(s):

Agustín Rolandelli ◽

Joaquín Miguel Pellegrini ◽

Rodrigo Emanuel Hernández Del Pino ◽

Nancy Liliana Tateosian ◽

Nicolás Oscar Amiano ◽

...

Keyword(s):

Single Nucleotide Polymorphism ◽

Disease Severity ◽

Advanced Disease ◽

Nucleotide Polymorphism ◽

Single Nucleotide

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Genetic association of interleukin 18 (-607C/A, rs1946518) single nucleotide polymorphism with asthmatic children, disease severity and total IgE serum level

Central European Journal of Immunology ◽

10.5114/ceji.2019.89603 ◽

2019 ◽

Vol 44 (3) ◽

pp. 285-291

Author(s):

Dina Ezzat ◽

Dalia Morgan ◽

Rabab Mohamed ◽

Asmaa Mohamed

Keyword(s):

Single Nucleotide Polymorphism ◽

Serum Level ◽

Disease Severity ◽

Genetic Association ◽

Interleukin 18 ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Total Ige ◽

Asthmatic Children

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An Interleukin-1β (IL-1β) Single-Nucleotide Polymorphism at Position 3954 and Red Complex Periodontopathogens Independently and Additively Modulate the Levels of IL-1β in Diseased Periodontal Tissues

Infection and Immunity ◽

10.1128/iai.00546-08 ◽

2008 ◽

Vol 76 (8) ◽

pp. 3725-3734 ◽

Cited By ~ 53

Author(s):

Samuel B. Ferreira ◽

Ana Paula F. Trombone ◽

Carlos E. Repeke ◽

Cristina R. Cardoso ◽

Walter Martins ◽

...

Keyword(s):

Single Nucleotide Polymorphism ◽

Disease Severity ◽

Periodontal Diseases ◽

Interleukin 1Β ◽

Clinical Parameters ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Periodontal Tissues ◽

And Control

ABSTRACT Inflammatory cytokines such as interleukin-1β (IL-1β) are involved in the pathogenesis of periodontal diseases. A high individual variation in the levels of IL-1β mRNA has been verified, which is possibly determined by genetic polymorphisms and/or by the presence of periodontopathogens such as Porphyromonas gingivalis, Tannerella forsythia, Treponema denticola, and Aggregatibacter actinomycetemcomitans. In this study, we investigated the role of an IL-1β promoter single-nucleotide polymorphism at position 3954 [IL-1β(3954) SNP] and the presence of the periodontopathogens in the determination of the IL-1β levels in the periodontal tissues of nonsmoking chronic periodontitis (CP) patients (n = 117) and control (C) subjects (n = 175) and the possible correlations with the clinical parameters of the disease. IL-1β(3954) SNP was investigated by restriction fragment length polymorphism, while the IL-1β levels and the presence of the periodontopathogens were determined by real-time PCR. Similar frequencies of IL-1β(3954) SNP were found in the C and CP groups, in spite of a trend toward a higher incidence of T alleles in the CP group. The IL-1β(3954) SNP CT and TT genotypes, as well as P. gingivalis, T. forsythia, and T. denticola, were associated with higher IL-1β levels and with higher values of the clinical parameters of disease severity. Concomitant analyses demonstrate that IL-1β(3954) and the red complex periodontopathogens were found to independently and additively modulate the levels of IL-1β in periodontal tissues. Similarly, the concurrent presence of both factors was associated with increased scores of disease severity. IL-1β(3954) genotypes and red complex periodontopathogens, individually and additively, modulate the levels of IL-1β in the diseased tissues of nonsmoking CP patients and, consequently, are potentially involved in the determination of the disease outcome.

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PNPLA3 Single Nucleotide Polymorphism Prevalence and Association with Liver Disease in a Diverse Cohort of Persons Living with HIV

Biology ◽

10.3390/biology10030242 ◽

2021 ◽

Vol 10 (3) ◽

pp. 242

Author(s):

Kenneth E. Sherman ◽

Susan D. Rouster ◽

Heidi Meeds ◽

Javier Tamargo ◽

Jun Chen ◽

...

Keyword(s):

Single Nucleotide Polymorphism ◽

Liver Disease ◽

Hepatic Steatosis ◽

Disease Severity ◽

Proton Density ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Alcoholic Fatty Liver ◽

Persons Living With Hiv ◽

Living With Hiv

In persons living with HIV (PLWH), there are multiple sources of liver injury. Gene polymorphisms of PNPLA3 (patatin-like phospholipase domain-containing protein 3) have been identified as an important cofactor for increased disease severity in both alcoholic and non-alcoholic steatohepatitis (NASH). We utilized a well-characterized cohort of ethnically and racially diverse patients with HIV to define the prevalence of PNPLA3 SNPs (single nucleotide polymorphism) (rs738409), and to determine the relationship to hepatic steatosis and liver fibrosis. Steatosis was determined using MRI-PDFF (magnetic resonance imaging-determined proton density fat fraction) and fibrosis was estimated using MR Elastography (MRE). From the Miami Area HIV Study (MASH) cohort, 100 HIV positive participants and 40 controls (HCV/HIV = 20; HCV and HIV negative = 20) were evaluated. Nearly 40% of all participants carried the variant G allele associated with increased liver disease severity and 5% were homozygotic GG. The variant SNP occurred most frequently in those self-identified as Hispanic compared to white or Black participants. Hepatic steatosis (>5% fat) was present significantly more often in those without HIV vs. those with (p < 0.001). Putative NAFLD/NASH was found to be present in 6% of tested subjects, who were HIV monoinfected. BMI was lower in those that carried the G allele for PNPLA3. This finding suggests that PNPLA3 may be an independent component to NAFLD (non-alcoholic fatty liver disease)/NASH development and longitudinal follow-up of the cohort is warranted.

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