scholarly journals Chronic Periodontitis and Immunity, Towards the Implementation of a Personalized Medicine: A Translational Research on Gene Single Nucleotide Polymorphisms (SNPs) Linked to Chronic Oral Dysbiosis in 96 Caucasian Patients

Biomedicines ◽  
2020 ◽  
Vol 8 (5) ◽  
pp. 115 ◽  
Author(s):  
Francesco Inchingolo ◽  
Francesco Saverio Martelli ◽  
Ciro Gargiulo Isacco ◽  
Elisa Borsani ◽  
Stefania Cantore ◽  
...  
Keyword(s):  
Bone Loss ◽  
Single Nucleotide Polymorphisms ◽  
Translational Research ◽  
Chronic Periodontitis ◽  
Pathogenic Fungi ◽  
Italian Population ◽  
Nucleotide Polymorphisms ◽  
Necrosis Factor Alpha ◽  
Single Nucleotide ◽  
Caucasian Patients

Chronic periodontitis (CP) is a complex pathology with a significant impact worldwide causing bone loss. Oral dysbiosis is a highly inflammatory condition associated to a long-term insulting infection and represents an underestimated CP key factor associated with an imbalance of pro-inflammatory and anti-inflammatory gene responses. The presence of a single nucleotide polymorphisms (SNPs) in the promoter region of interleukin 10 (IL-10) gene −1082, −819, and −592 was a possible determinant cause. This translational research aimed to provide outcomes on the role of IL-10 gene expression in bone loss diseases in patients affected by CP. Caucasian patients (n = 96) affected by CP were recruited from the Italian population. The subgingival samples were collected using the Bacterial Periodontal Assessment by Biomolecular Diagnostic® and the characterization of a set of 15 bacterial DNA responsible of periodontitis was performed by real-time multiplex PCR. In addition, two viruses, Epstein–Barr Virus (EBV) and Herpes Simplex Virus 1 (HSV-1), and a pathogenic fungi (Candida albicans) were included as a part of our panel. Our results confirmed an existing association between IL-10 gene polymorphisms and polymorphism of tumor necrosis factor alpha (TNFα), interleukin 1α-β-RN (IL-1α-β-RN), collagen type-l alpha (COLIA1), and vitamin D receptor (VDRs) genes in CP. Further studies are needed to improve diagnosis and endorse more effective therapeutic procedures for periodontal disease.

scholarly journals Genotyping of Essential Hypertension Single-Nucleotide Polymorphisms by a Homogeneous PCR Method with Universal Energy Transfer Primers

2002 ◽  
Vol 48 (12) ◽  
pp. 2131-2140 ◽  
Author(s):  
Chikh Bengra ◽  
Theodore E Mifflin ◽  
Yuri Khripin ◽  
Paolo Manunta ◽  
Scott M Williams ◽  
...  
Keyword(s):  
Essential Hypertension ◽  
Single Nucleotide Polymorphisms ◽  
Restriction Endonucleases ◽  
Control Group ◽  
Italian Population ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Hypertensive Patients ◽  
Unique Restriction ◽  
Set Up

Abstract Background: Human hypertension is a complex, multifactorial disease with a heritability of more than 30–50%. A genetic screening test based on analysis of multiple single-nucleotide polymorphisms (SNPs) to assess the likelihood of developing hypertension would be helpful for disease management. Methods: Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: −6G→A and M235T; and one in aldosterone synthase: −344C→T] associated with essential hypertension. PCRs of SNP loci were coupled (via a common sequence of 21 nucleotide tails) to incorporate Universal Amplifluor™ primers labeled with fluorescein or sulforhodamine in a homogeneous format. Use of Amplifluors in SNP PCRs produced labeled amplicons, the fluorescence of which was quantified by a microplate reader and then analyzed via an Excel macro to provide genotypes for all six SNP loci. Unique restriction endonucleases were identified for five SNP loci that could independently confirm homogeneous PCR results when needed. Results: We developed six homogeneous PCR assays that were set up, performed, and fluorometrically analyzed in 96-well microplates. Allele frequencies were determined for six SNPs in 60 Italian hypertensive patients and a control group of 60 normotensive persons. A significant correlation (P = 0.034) between one SNP [GRK4 (A486V)] and the hypertensive patients was observed. Genotyping results for five of six SNPs were confirmed by digesting corresponding amplicons with locus-specific restriction endonucleases. Conclusions: We developed a simple and homogeneous fluorescent protocol that has been used to determine the SNP genotype for six loci in a population of hypertensive and normotensive persons. We also observed a significant association (P = 0.034) between one SNP (A486V) and an Italian population of mildly hypertensive patients.

scholarly journals The role of single nucleotide polymorphisms of IL-1A -889C>T (rs1800587), TNF-A -238G>A (rs361525), and VDR TaqI (rs731236) on susceptibility to herniated nucleus pulposus

F1000Research ◽  
2021 ◽  
Vol 10 ◽  
pp. 419
Author(s):  
Azharuddin Azharuddin ◽  
Muhammad Ilmawan ◽  
Jonny Karunia Fajar ◽  
Marhami Fahriani ◽  
Sukamto S. Mamada ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Nucleus Pulposus ◽  
Meta Analysis ◽  
Interleukin 1 ◽  
Recessive Model ◽  
Nucleotide Polymorphisms ◽  
Necrosis Factor Alpha ◽  
Single Nucleotide ◽  
Herniated Nucleus Pulposus

Background: The objective of this study was to determine the role of single nucleotide polymorphisms (SNPs) in interleukin 1 alpha (IL-1A), tumor necrosis factor-alpha (TNF-A), and vitamin D receptor (VDR) genes on the susceptibility to herniated nucleus pulposus (HNP). Methods: Four databases (PubMed, Embase, Cochrane, and Web of Science) were searched as of April 1st, 2021. Authors, publication year, targeted genes, genotype and allele frequency in each case and control groups were collected. Newcastle-Ottawa scale was used to evaluate the publication quality. The pooled estimates of association of IL-1A -889C>T (rs1800587), TNF-A -238G>A (rs361525), and VDR TaqI (rs731236) and susceptibility to HNP were assessed using Z test and presented as odd ratio (OR) and 95% confidence intervals (95%CI). Results: We screened 3,067 unique studies for eligibility and three, two and nine studies on IL-1A -889C>T, TNF-A -238G>A, and VDR TaqI were included, respectively, in our meta-analysis. The studies consisting 369 HNP cases and 433 controls for IL-1A -889C>T, 252 cases and 259 controls for TNF-A -238G>A and 1130 cases and 2096 controls for VDR TaqI. Our pooled estimates indicated that there was no significant association of those SNPs with the susceptibility to HNP in any genotype, dominant model, recessive model, or allele comparations. Conclusion: Although individual studies suggested the important role of gene expression dysregulation associated with SNPs in IL-1A, TNF-A, and VDR, our data indicated that IL-1A -889C>T, TNF-A -238G>A, and VDR TaqI had weak association with HNP susceptibility in both genotypes and allele distributions. However, since heterogeneity was identified among studies included in this meta-analysis, further meta-analysis with a larger population and subgroup analysis on specific population are warranted to support this finding.

scholarly journals Single-nucleotide polymorphisms in the P2X7 receptor gene are associated with post-menopausal bone loss and vertebral fractures

2012 ◽  
Vol 20 (6) ◽  
pp. 675-681 ◽  
Author(s):  
Niklas R Jørgensen ◽  
Lise B Husted ◽  
Kristen K Skarratt ◽  
Leanne Stokes ◽  
Charlotte L Tofteng ◽  
...  
Keyword(s):  
Bone Loss ◽  
Single Nucleotide Polymorphisms ◽  
Vertebral Fractures ◽  
P2x7 Receptor ◽  
Receptor Gene ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Post Menopausal

ARTS1 polymorphisms are associated with ankylosing spondylitis in Koreans

2009 ◽  
Vol 69 (3) ◽  
pp. 582-584 ◽  
Author(s):  
Chan-Bum Choi ◽  
Tae-Hwan Kim ◽  
Jae-Bum Jun ◽  
Hye-Soon Lee ◽  
Seung Cheol Shim ◽  
...  
Keyword(s):  
New York ◽  
Ankylosing Spondylitis ◽  
Single Nucleotide Polymorphisms ◽  
Genetic Polymorphisms ◽  
Caucasian Population ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Pathogenetic Mechanisms ◽  
Caucasian Patients

ObjectiveTo test the association between ARTS1 polymorphisms and Koreans with ankylosing spondylitis (AS).MethodsAll patients and controls were Korean. 872 patients with AS fulfilling the modified New York criteria and 403 healthy controls were genotyped for five single nucleotide polymorphisms (SNPs), rs27044, rs17482078, rs10050860, rs30107 and rs2287987, known to be associated with AS in Caucasians.ResultsSNPs rs27044 (p=9.37 × 10−7) and rs30187 (p=7.16 × 10−6) of ARTS1 were significantly associated with AS in Koreans. There was no significant association for rs17482078, rs10050860 and rs2287987. Two four-marker haplotypes were found to be associated with AS (GCCT: p=4.71×10−7, CCCC: p=8.56×10−6).ConclusionsThis is first confirmation in a non-Caucasian population that genetic polymorphisms in ARTS1 are associated with AS, implicating common pathogenetic mechanisms in Korean and Caucasian patients with AS.

IL-23R Polymorphisms in Patients with Ankylosing Spondylitis in Korea: Table 1.

2009 ◽  
Vol 36 (5) ◽  
pp. 1003-1005 ◽  
Author(s):  
IL-HOON SUNG ◽  
TAE-HWAN KIM ◽  
SO-YOUNG BANG ◽  
TAE-JONG KIM ◽  
BITNARA LEE ◽  
...  
Keyword(s):  
New York ◽  
Ankylosing Spondylitis ◽  
Single Nucleotide Polymorphisms ◽  
Gene Cluster ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Korean Patients ◽  
Caucasian Patients

Objective.IL23R polymorphisms have been shown to have a significant association with ankylosing spondylitis (AS). To date, these studies have been restricted to Caucasian patients with AS. Our study addresses this relationship in Korean patients with AS.Methods.A total of 451 patients with AS and 392 ethnically matched healthy controls were enrolled. All patients were native Koreans with AS satisfying the modified New York criteria. In total, 10 single nucleotide polymorphisms (SNP) within the IL-23R gene cluster were genotyped.Results.No IL-23R SNP were found to be associated with AS in Koreans.Conclusion.The association of IL23R and AS that is seen in Caucasian patients with AS is not present in Korean patients with AS.

scholarly journals Single Nucleotide Polymorphisms in Two Inflammation-Related Genes and Chronic Periodontitis risk in Romanian Adults

2019 ◽  
Vol 24 (2) ◽  
pp. 374-380
Author(s):  
REMUS NICA ◽  
◽  
SILVIA NICA ◽  
LARISA GOGIANU ◽  
SONIA SPANDOLE-DINU ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Chronic Periodontitis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

scholarly journals Identification of single nucleotide polymorphisms in the p21 (CDKN1A) gene and correlations with longevity in the Italian population

Aging ◽  
2009 ◽  
Vol 1 (5) ◽  
pp. 470-480 ◽  
Author(s):  
Silvia Gravina ◽  
Francesco Lescai ◽  
Gregory Hurteau ◽  
Graham J. Brock ◽  
Anna Saramaki ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Italian Population ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Cdkn1a Gene
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