Genetic variation of myeloperoxidase gene contributes to aggressive periodontitis: A preliminary association study in Turkish population

Abstract. Myeloperoxidase (MPO) is a lysosomal enzyme found in the azurophilic granules of polymorphonuclear leukocytes. It is involved in the defense against periodontal bacteria, and is also able to mediate inflammatory tissue destruction in aggressive and chronic periodontitis. The aim of this study was to explore the association between MPO-463G/A gene polymorphism and aggressive periodontitis (AgP) and chronic periodontitis (CP). The study included 147 subjects. Probing depth (PD), clinical attachment loss (CAL), plaque index (PI), and gingival index (GI) were recorded as the clinical parameters. Genomic DNA was obtained from the peripheral blood of 32 subjects with AgP, 25 with CP, and 90 reference controls. We genotyped the MPO-463G/A polymorphism using the PCR-RFLP method. All data were analyzed using SPSS version 13.0 for windows. There were no significant differences between the CP patients and controls regarding MPO-463A/G gene polymorphism either in terms of allele frequency or genotype frequency of MPO-463A/G. However, either in terms of allele frequency or genotype frequency of MPO-463A/G, there were significant differences between the AgP patients and the controls. In conclusion, our data suggest that MPO-463G/A may be associated with increased risk of aggressive periodontitis in Turkish patients

Формирование эмоциональной культуры как компонента инновационной культуры студентов

Homozygosity has long been associated with rare, often devastating, Mendelian disorders1 and Darwin was one of the first to recognise that inbreeding reduces evolutionary fitness2. However, the effect of the more distant parental relatedness common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity, ROH), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power3,4. Here we use ROH to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts and find statistically significant associations between summed runs of homozygosity (SROH) and four complex traits: height, forced expiratory lung volume in 1 second (FEV1), general cognitive ability (g) and educational attainment (nominal p<1 × 10−300, 2.1 × 10−6, 2.5 × 10−10, 1.8 × 10−10). In each case increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing convincing evidence for the first time that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples5,6, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein (LDL) cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection7, this study provides evidence that increased stature and cognitive function have been positively selected in human evolution, whereas many important risk factors for late-onset complex diseases may not have been

The Frequency of XRCC1 DNA Repair Gene A399G Polymorphism In The Western Anatolia

The aim of this study is to determine the frequency of polymorphism in codon 399 region of XRCC1 gene in the healthy Western Anatolian population. XRCC1-399 polymorphism is studied in the control group of 100 people living in Izmir, Turkey, who don't have a cancer story, using the method of PCR-RFLP (Msp I Restriction Endonuclease enzyme). The followings are found out as a result of the analyses: the frequency of the ones having A/A genotype is 44.0 %, the frequency of the ones having A/G genotype is 41.0 % and the frequency of the ones having GIG genotype is 15.0 %. Allel frequencies are found to be 64.5 % for A nucleotide and 35.5 % fOr G nucleotide. When the results obtained are compared with various populations, the homozygosity rate for Allel A and Allel G is determined to be at a similar value as the Indian, American, English, Korean and Chinese populations

Genetic Variation of Myeloperoxidase Gene Contributes to Aggressive Periodontitis: A Preliminary Association Study in Turkish Population

Myeloperoxidase (MPO) is a lysosomal enzyme found in the azurophilic granules of polymorphonuclear leukocytes. It is involved in the defense against periodontal bacteria, and is also able to mediate inflammatory tissue destruction in aggressive and chronic periodontitis. The aim of this study was to explore the association between MPO-463G/A gene polymorphism and aggressive periodontitis (AgP) and chronic periodontitis (CP). The study included 147 subjects. Probing depth (PD), clinical attachment loss (CAL), plaque index (PI), and gingival index (GI) were recorded as the clinical parameters. Genomic DNA was obtained from the peripheral blood of 32 subjects with AgP, 25 with CP, and 90 reference controls. We genotyped the MPO-463G/A polymorphism using the PCR-RFLP method. All data were analyzed using SPSS version 13.0 for windows. There were no significant differences between the CP patients and controls regarding MPO-463A/G gene polymorphism either in terms of allele frequency or genotype frequency of MPO-463A/G. However, either in terms of allele frequency or genotype frequency of MPO-463A/G, there were significant differences between the AgP patients and the controls. In conclusion, our data suggest that MPO-463G/A may be associated with increased risk of aggressive periodontitis in Turkish patients

Cytokine gene variants/expressions and non-syndromic microtia - is there a link?

Objective: Although many genetic and environmental factors are investigated the etiopathogenesis of microtia, it still remains unclear. We investigated the relationship between the variants/expression of pro-and anti-inflammatory cytokines [interleukin (IL) 6, IL-10, tumor necrosis factor-alpha (TNF-alpha), transforming growth factor beta (TGF-beta 1), interferon gamma (IFN-gamma)] and susceptibility non-syndromic microtia in a Turkish cohort

Late Onset Papillon-Lefevre Syndrome (A Clinical Report)

Papillon-Lefevre syndrome is a rare autosomal recessive disorder characterized by the association of palmoplantar hyperkeratosis and premature loss of both deciduous and permanent teeth. Although there were a number of studies with respect to dassical PLS patients, the number of studies on the late-onset PLS was limited. This paper reports the treatment planning of the mildly affected periodontal component of a patient with late-onset Papilion-Lefevre syndrome and in DNA by investigating cytokine and MIF genotyping. Cytokine (IL-6, IL-10, IFN-g, TGF-beta 1, TNFa) genotyping was performed by the PCR-SSP method. The TNFa (-238,-857) and MIF (-173) genotyping were determined by PCR-RFLP method. These results are the first detailed genetic study data concerning the Late-Onset Papillon-Lefevre Syndrome in literature. The IL-6, IL-10, TNFa and IFN-g polymorphisms were detected as high expression while TGF-beta 1 was detected as intermediate expression and GC genotype in the MIF (-173) gene

Free DNA in Circulation and its Importance

The cell-free, nude and double helix structured DNA, which joins circulation for reasons such as cell necrosis and programmed cell death (apoptosis) and is obtained try the purification of plazma or serum samples in the circulatory system, is called Free DNA (fDNA). Although it is advocated to have existed approximately 130 years ago, its importance has been understood better for the last 20 years, and it preserves its place among the cases in which intensive studies are made in many fields of medicine such as Hematology, Gynecology and Obstetrics, Urology, Oncology, Surgery and Neurology. In this collection, it will be intended to summarize literature information wherein it is intended to answer questions such as what Free DNA is, in which fields it is studied more intensively and whether it yields promising results in diagnosis and treatment for the future

Association between TNF-α, TGF-β1, IL-10, IL-6 and IFN-γ gene polymorphisms and generalized aggressive periodontitis

Objective: The aim of this study was to investigate links among cytokine genetic variants and generalized aggressive periodontitis (GAgP). Methods: Thirty-five patients with generalized aggressive periodontitis and 85 healthy controls without periodontitis were included in the study. Probing depth (PD), clinical attachment loss (CAL), plaque index (PI), and gingival index (GI) were recorded as clinical parameters. Polymorphisms of IL-6, IL-10, IFN-γ, TGF-ß1 and TNF-α gene were analysed using the polymerase chain reaction sequence-specific primer method (PCR-SSP). Results: No significant differences were observed for IL-6, IL-10, IFN-γ, and TGF-ß1 cytokine polymorphisms, from the genotype distribution and allele frequency, between GAgP and healthy control groups. In contrast, significant differences were observed in the TNF-α gene polymorphism between GAgP and healthy control groups (P = 0.002). Conclusion: Our data suggest that TNF-α (-308) may be associated with the development of generalized aggressive periodontitis. These results should be replicated in a larger and more diverse population of patients diagnosed with generalized aggressive periodontitis to determine of these findings are generalizable