Evaluation of PECAM-1 Gene Polymorphism in Patients with Periodontal Disease and Healthy Individuals

Objective. Our aim in this paper was to investigate the possible genetic association between three Ser563Asn, Leu125Val and Arg670Gly polymorphisms of the PECAM-1 gene and periodontitis. Methods. Genomic DNA was isolated from whole blood of 105 periodontal patient (52 with chronic periodontitis and 53 with aggressive periodontitis) and 101 healthy individuals. Samples were genotyped and analyzed for the three single-nucleotide polymorphisms (SNPs) of PECAM-1 using polymerase chain reaction with sequence-specific primers (PCR-SSPs). Results. A statistically significant difference was found between the genotypic distribution of the Ser563Asn polymorphism in patients with periodontitis compared to controls (P=0.02). But there were no statistically significant difference between the allele frequencies in the different groups (P=0.05). The other two polymorphisms did not show a statistically significant difference in their allele and genotype frequencies between the groups. There was no statistically significant difference found for any of the polymorphisms allele and genotype distribution in aggressive and chronic periodontitis either. Conclusions. No significant association was found between the polymorphism tested and the subgroups of periodontitis, further research is still necessary to determine whether this polymorphism can be used as a genetic marker of periodontitis.

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miR-372 (rs12983273) and LncRNA HULC (rs7763881) Genetic Polymorphisms and Susceptibility to Hepatitis B Virus (HBV) Infection

10.21203/rs.3.rs-656527/v1 ◽

2021 ◽

Author(s):

roba talaat ◽

Samar M. Shahen ◽

Soha Z. Elshenawy ◽

Salwa E. Mohamed

Keyword(s):

Hbv Infection ◽

Genotype Distribution ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Increased Risk ◽

Significant Difference ◽

B Virus ◽

Risk Snps ◽

Non Coding Rnas ◽

Polymerase Chain

Abstract MicroRNAs (miRNAs) and Long non-coding RNAs (lncRNAs) are two major types of non-coding RNAs (ncRNAs) with regulatory roles. Genetic variation in the miRNAs and lncRNAs has been involved in the initiation and progression of many diseases. miRNA-LncRNA interactions are implicated in the regulation of many diseases, such as hepatitis infection. In this study, we assumed that single nucleotide polymorphisms (SNPs) in miR-372 (rs28461391 C/T) and HULC (rs7763881 A/C) might participate in HBV infection risk. SNPs rs28461391 in miR-372 and rs7763881 in HULC were genotyped in 100 HBV patients and 100 healthy controls using the Polymerase chain reaction sequence-specific primer technique (PCR-SSP). Our results showed no significant difference in miR-372 rs12983273 genotype distribution between both controls and HBV patients. On the other hand, there was a significant increase in HULC rs7763881 CC genotype (P<0.05) coincides with a significant decrease in AC genotype distribution (P<0.05) in HBV patients as compared to controls. Our results showed that the CC genotype is associated with an increased risk of HBV infection (OR= 3.43; CI: 1.3-9.07) while AA genotype is a protective one (OR= 0.3; CI: 0.13-9.07). Our results suggest that HULC rs7763881 A/C might be a biomarker for HBV susceptibility. However, larger sample studies are recommended to verify our preliminary data. To the best of our knowledge, the present study was the first to investigate the relevance of miR-372 (rs28461391 C/T) and HULC (rs7763881 A/C) gene polymorphisms to the risk of HBV infection in the Egyptian population.

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Single Nucleotide Polymorphisms in Carnosinase Genes (CNDP1 and CNDP2) are Associated With Power Athletic Status

International Journal of Sport Nutrition and Exercise Metabolism ◽

10.1123/ijsnem.2017-0098 ◽

2017 ◽

Vol 27 (6) ◽

pp. 533-542 ◽

Cited By ~ 4

Author(s):

João Paulo Limongi França Guilherme ◽

Antonio Herbert Lancha

Keyword(s):

Single Nucleotide Polymorphisms ◽

Endurance Athletes ◽

Genotype Distribution ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Athletic Status ◽

Genotype Frequencies ◽

Significant Difference ◽

Minor Alleles ◽

Representative Cohort

Carnosine (β-alanyl-L-histidine), abundantly found in skeletal muscle, plays an important role during exercise, especially for high-intensity contractions. Variability in muscle carnosine content between individuals exists and may also be explained by different genetic bases, although no study has addressed the association of polymorphisms in genes related to carnosine metabolism in athletes. This study aimed to investigate the frequency of single nucleotide polymorphisms (SNPs) in the carnosinase genes (CNDP1 and CNDP2) in a large Brazilian cohort of athletes and nonathletes. Eight SNPs were compared between a representative cohort of elite athletes from Brazil (n = 908) and a paired group of nonathletes (n = 967). The athletes were stratified into three groups: endurance (n = 328), power (n = 415), and combat (n = 165). The CNDP2 rs6566810 (A/A genotype) is overrepresented in endurance athletes, but only in international-level endurance athletes. Three SNPs (CNDP2 rs3764509, CNDP2-CNDP1 rs2346061, and CNDP1 rs2887) were overrepresented in power athletes compared with nonathletes. Carriers of the minor allele had an increased odds ratio of being a power athlete. For the rs2346061, no significant difference was observed in genotype frequencies between power and combat sports athletes, but for rs2887 the power and combat groups showed an inverse genotype distribution. In conclusion, we found that minor alleles carriers for CNDP2 rs3764509 (G-allele), CNDP2-CNDP1 rs2346061 (C-allele), and CNDP1 rs2887 (A-allele) are more likely to be a power athlete. These polymorphisms may be novel genetic markers for power athletes. Furthermore, these results are suggestive of a distinct CNDP genotype for sporting development.

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Significant Associations of lncRNA H19 Genotypes with Susceptibility to Childhood Leukemia in Taiwan

Pharmaceuticals ◽

10.3390/ph14030235 ◽

2021 ◽

Vol 14 (3) ◽

pp. 235

Author(s):

Jen-Sheng Pei ◽

Chao-Chun Chen ◽

Wen-Shin Chang ◽

Yun-Chi Wang ◽

Jaw-Chyun Chen ◽

...

Keyword(s):

Confidence Interval ◽

Childhood Leukemia ◽

Healthy Controls ◽

Nucleotide Polymorphisms ◽

Wild Type ◽

Single Nucleotide ◽

Genotypic Distribution ◽

Heterozygous Variant ◽

Significant Difference ◽

The Difference

The purpose of our study was to investigate whether genetic variations in lncRNA H19 were associated with susceptibility to childhood leukemia. Two hundred and sixty-six childhood leukemia patients and 266 healthy controls were enrolled in Taiwan, and two single nucleotide polymorphisms (SNPs), rs2839698 and rs217727, in H19 were genotyped and analyzed. There was a significant difference in the genotypic distribution of rs2839698 between patients and healthy controls (p = 0.0277). Compared to the wild-type CC genotype, the heterozygous variant CT and homozygous variant TT genotypes were associated with significantly increased risks of childhood leukemia with an adjusted odd ratio (OR) of 1.46 (95% confidence interval (CI), 1.08–2.14, p = 0.0429) and 1.94 (95%CI, 1.15–3.31, p = 0.0169), respectively (pfor tread = 0.0277). The difference in allelic frequencies between childhood leukemia patients and controls was also significant (T versus C, adjusted OR = 1.53, 95%CI, 1.13–1.79, p = 0.0077). There were no significant differences in the genotypic and allelic distributions of rs217727 between cases and controls. Interestingly, the average level of H19 rs2839698 was statistically significantly higher for patients with CT and TT genotypes than from those with the CC genotype (p < 0.0001). Our results indicate that H19 SNP rs2839698, but not rs217727, may serve as a novel susceptibility marker for childhood leukemia.

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ADIPOQ single nucleotide polymorphisms and breast cancer in northeastern Mexican women

BMC Medical Genetics ◽

10.1186/s12881-020-01125-8 ◽

2020 ◽

Vol 21 (1) ◽

Author(s):

Ricardo M. Cerda-Flores ◽

Karen Paola Camarillo-Cárdenas ◽

Gabriela Gutiérrez-Orozco ◽

Mónica Patricia Villarreal-Vela ◽

Raquel Garza-Guajardo ◽

...

Keyword(s):

Breast Cancer ◽

Single Nucleotide Polymorphisms ◽

Mexican Women ◽

Genotype Distribution ◽

Nucleotide Polymorphisms ◽

Allelic Discrimination Assay ◽

Allelic Discrimination ◽

Single Nucleotide ◽

Significant Difference ◽

Hardy Weinberg Equilibrium

Abstract Background Adiponectin gene (ADIPOQ) polymorphisms have been shown to affect adiponectin serum concentration and some have been associated with breast cancer (BC) risk. The aims of this study were to describe the frequency of single nucleotide polymorphisms (SNPs) of ADIPOQ in Mexican women with BC and to determine if they show an association with it. Methods DNA samples from 397 patients and 355 controls were tested for the ADIPOQ gene SNPs: rs2241766 (GT) and rs1501299 (GT) by TaqMan allelic discrimination assay. Hardy–Weinberg equilibrium (HWE) was tested. Multiple SNP inheritance models adjusted by age and body mass index (BMI) were examined for the SNP rs1501299. Results We found that in the frequency analysis of rs1501299 without adjusting the BMI and age, the genotype distribution had a statistically significant difference (P = 0.003). The T allele was associated with a BC risk (OR, 1.99; 95% CI 1.13–3.51, TT vs. GG; OR, 1.53; 95% CI 1.12–2.09, GT vs. GG). The SNP rs2241766 was in HW disequilibrium in controls. In conclusion, the rs1501299 polymorphism is associated with a BC risk. Conclusions Identification of the genotype of these polymorphisms in patients with BC can contribute to integrate the risk profile in both patients and their relatives as part of a comprehensive approach and increasingly more personalized medicine.

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Association of Leptin Gene Polymorphisms with Rheumatoid Arthritis in a Chinese Population

BioMed Research International ◽

10.1155/2020/3789319 ◽

2020 ◽

Vol 2020 ◽

pp. 1-7

Author(s):

Sha-Sha Tao ◽

Yi-Lin Dan ◽

Guo-Cui Wu ◽

Qin Zhang ◽

Tian-Ping Zhang ◽

...

Keyword(s):

Rheumatoid Arthritis ◽

Chinese Population ◽

Clinical Manifestations ◽

Enzyme Linked Immunosorbent Assay ◽

Healthy Controls ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Genotype Frequencies ◽

Significant Difference ◽

Plasma Leptin

Background. Recently, increasing studies have revealed that leptin is involved in the development of rheumatoid arthritis (RA). This study is aimed at exploring the association of leptin gene single nucleotide polymorphisms (SNPs) with susceptibility to RA in a Chinese population. Methods. We recruited 600 RA patients and 600 healthy controls from a Chinese population and analyzed their three leptin SNPs (rs10244329, rs2071045, and rs2167270) using the improved Multiplex Ligase Detection Reaction (iMLDR) assays. The associations of these SNPs with clinical manifestations of RA were also analyzed. Enzyme-linked immunosorbent assay (ELISA) was performed for plasma leptin determination. Results. No significant difference in either allele or genotype frequencies of these three SNPs between RA patients and healthy controls was observed (all P > 0.05 ). Association between the genotype effects of dominant, recessive models was also not found (all P > 0.05 ). No significant difference in plasma leptin levels was detected between RA patients and controls ( P > 0.05 ). Conclusion. Leptin gene (rs10244329, rs2071045, and rs2167270) polymorphisms are not associated with RA genetic susceptibility and its clinical features in the Chinese population.

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Lack of Association between Polymorphisms of theTLR4Gene and Infection with the Hepatitis B and C Viruses

Mediators of Inflammation ◽

10.1155/2015/150673 ◽

2015 ◽

Vol 2015 ◽

pp. 1-7 ◽

Cited By ~ 1

Author(s):

Orlando de Souza Pires-Neto ◽

Keyla Santos Guedes de Sá ◽

Barbara Brasil Santana ◽

Samara Tatielle Monteiro Gomes ◽

Ednelza da Silva Graça Amoras ◽

...

Keyword(s):

Hepatitis B ◽

Haplotype Analysis ◽

Early Recognition ◽

Genetic Profile ◽

Nucleotide Polymorphisms ◽

Toll Like Receptor 4 ◽

Single Nucleotide ◽

Susceptibility To Infection ◽

Genotype Frequencies ◽

Polymerase Chain

Toll-like receptor 4 (TLR4) plays a crucial role in the early recognition of pathogenic microorganisms and provides an ideal model to investigate the consequences of genetic variation and susceptibility to diseases. The present study investigated the occurrence of the single nucleotide polymorphisms (SNPs) rs4986790 (A>G) and rs4986791 (C>T) in theTLR4gene in chronic carriers of the hepatitis B (HBV) and C (HCV) viruses. A total of 420 blood samples were collected (HBV, 49; HCV, 72; and controls, 299) at the liver disease outpatient clinic of Hospital da Fundação Santa Casa de Misericórdia do Pará (FSCMPA). Genomic DNA extracted from leukocytes was subjected to real-time polymerase chain reaction (qPCR) analysis to identify the genetic profile of the participants. No significant differences were found in the allele and genotype frequencies between the infected participants and controls. No significant associations were found between the investigated polymorphisms and inflammatory activity, fibrosis, and the presence of cirrhosis; the same results were obtained in the haplotype analysis. The results showed a lack of association between the rs4986790 and rs4986791 SNPs and susceptibility to infection with HBV and HCV, as well as clinical and laboratory information of the patients.

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Genetic risk-factors for anxiety in healthy individuals: polymorphisms in genes important for the HPA axis

BMC Medical Genetics ◽

10.1186/s12881-020-01123-w ◽

2020 ◽

Vol 21 (1) ◽

Author(s):

Heléne Lindholm ◽

India Morrison ◽

Alexandra Krettek ◽

Dan Malm ◽

Giovanni Novembre ◽

...

Keyword(s):

Risk Factors ◽

Hpa Axis ◽

Genetic Risk ◽

Genetic Risk Factors ◽

Nucleotide Polymorphisms ◽

Healthy Individuals ◽

Single Nucleotide ◽

Significant Difference ◽

Development Of Anxiety ◽

Gender Specific

Abstract Background Two important aspects for the development of anxiety disorders are genetic predisposition and alterations in the hypothalamic-pituitary-adrenal (HPA) axis. In order to identify genetic risk-factors for anxiety, the aim of this exploratory study was to investigate possible relationships between genetic polymorphisms in genes important for the regulation and activity of the HPA axis and self-assessed anxiety in healthy individuals. Methods DNA from 72 healthy participants, 37 women and 35 men, were included in the analyses. Their DNA was extracted and analysed for the following Single Nucleotide Polymorphisms (SNP)s: rs41423247 in the NR3C1 gene, rs1360780 in the FKBP5 gene, rs53576 in the OXTR gene, 5-HTTLPR in SLC6A4 gene and rs6295 in the HTR1A gene. Self-assessed anxiety was measured by the State and Trait Anxiety Inventory (STAI) questionnaire. Results Self-assessed measure of both STAI-S and STAI-T were significantly higher in female than in male participants (p = 0.030 and p = 0.036, respectively). For SNP rs41423247 in the NR3C1 gene, there was a significant difference in females in the score for STAI-S, where carriers of the G allele had higher scores compared to the females that were homozygous for the C allele (p < 0.01). For the SNP rs53576 in the OXTR gene, there was a significant difference in males, where carriers of the A allele had higher scores in STAI-T compared to the males that were homozygous for the G allele (p < 0.01). Conclusion This study shows that SNP rs41423247 in the NR3C1 gene and SNP rs53576 in the OXTR gene are associated with self-assessed anxiety in healthy individuals in a gender-specific manner. This suggests that these SNP candidates are possible genetic risk-factors for anxiety.

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Single Nucleotide Polymorphism in the IL17A Gene Is Associated with Interstitial Lung Disease Positive to Anti-Jo1 Antisynthetase Autoantibodies

Life ◽

10.3390/life11020174 ◽

2021 ◽

Vol 11 (2) ◽

pp. 174

Author(s):

Marco Antonio Ponce-Gallegos ◽

Montserrat I. González-Pérez ◽

Mayra Mejía ◽

Karol J. Nava-Quiroz ◽

Gloria Pérez-Rubio ◽

...

Keyword(s):

Creatine Phosphokinase ◽

Case Group ◽

Nucleotide Polymorphisms ◽

Antisynthetase Syndrome ◽

Bonferroni Correction ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Genotype Frequencies ◽

Significant Difference ◽

Aminoacyl Transfer

Antisynthetase syndrome (ASSD) is a rare multisystemic connective tissue disease affecting the skin, joints, muscles, and lungs, characterized by anti-aminoacyl transfer-RNA-synthetases (anti-tRNA) autoantibodies production, being anti-Jo1 the most frequent. We included one-hundred twenty-one ASSD patients and 340 healthy subjects (HS), and also, we divided the case group into anti-Jo1 and non-anti-Jo1. Two single nucleotide polymorphisms (SNPs) in the IL17A gene were evaluated. Anti-Jo1 was the most common anti-tRNA antibody in our cohort, and the most frequent tomographic pattern was non-specific interstitial pneumonia (NSIP). Anti-Jo1 ASSD patients had higher levels of creatine phosphokinase than the non-anti-Jo1 group. Significant differences in genotype frequencies with rs8193036/CC between anti-Jo1 vs. non-anti-Jo1 ASSD patients (p < 0.001), maintaining the association after Bonferroni correction (p = 0.002). Additionally, in the anti-Jo1 group vs. HS comparison, we found a statistically significant difference with the same SNP (p = 0.018, OR = 2.91, 95% CI = 1.15–7.35), maintaining the association after Bonferroni correction (p = 0.036). The rs8193036/CC genotype in IL17A is associated with ASSD patients with anti-Jo1. Also, anti-Jo1 and non-anti-Jo1 patients display differences in genotype frequencies.

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AB0004 TLR10 SINGLE NUCLEOTIDE POLYMORPHISMS ARE ASSOCIATED WITH HIDRADENITIS SUPPURATIVA IN A CAUCASIAN SPANISH POPULATION (NORTHERN SPAIN)

Annals of the Rheumatic Diseases ◽

10.1136/annrheumdis-2020-eular.4459 ◽

2020 ◽

Vol 79 (Suppl 1) ◽

pp. 1306.1-1306

Author(s):

M. Calderón-Goercke ◽

J. G. Ocejo-Vinyals ◽

J. Irure-Ventura ◽

M. Gutiérrez-Larrañaga ◽

M. A. González-Gay ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Hidradenitis Suppurativa ◽

Hair Follicles ◽

Genotype Distribution ◽

Nucleotide Polymorphisms ◽

Northern Spain ◽

Research Support ◽

Single Nucleotide ◽

Significant Difference

Background:Hidradenitis suppurativa (HS) is a chronic, relapsing inflammatory cutaneous disease affecting terminal hair follicles in apocrine-gland bearing skin. The pathogenesis of HS is still unknown, although increasing evidence suggests that the immune system plays an important role. In order to study the role of innate immunity we analyzed several Toll Like Receptors (TLRs) functional single nucleotide polymorphisms (SNPs). To date, only one previous study focused about the role of TLR4 SNPs in HS showing no association with this disease.Objectives:The main goal of this study was to analyze the role of several TLRs functional SNPs in HS patients and healthy controls, in a Caucasian population from Cantabria (northern Spain).Methods:Through a case-control study, we analyzed the allele and genotype distribution of the SNPs in 106 patients with HS and 278 age and sex matched healthy control subjects for the following SNPs (TLR1 rs5743611 and rs4833095, TLR2 rs5743704 and rs5743708, TLR6 rs5743810, and TLR10 rs11096955, rs11096957 and rs4129009, by Real-Time PCR using a TaqMan assay.Results:We did not find any significant difference in the allelic distribution of the different SNPs between HS patients and controls. Regarding genotypes, only TLR10 rs11096955 (dominant, codominant and overdominant), rs11096957 (dominant, codominant and overdominant) and rs4129009 (codominant and overdominant) showed significant differences between HS patients and controls. However, no association was found when we analyzed the different TLR10 haplotypes.Conclusion:To the best of our knowledge, this is the first study showing an association of TLR10 SNPs with HS.References:[1]González-López MA. J Am Acad Dermatol. 2016; Aug;75(2):329-35.[2]González-López MA. PLoS One. 2018 Jan 4;13(1)[3]Vilanova I. J Eur Acad Dermatol Venereol. 2018 May;32(5):820-824.[4]Durán-Vian C, J Eur Acad Dermatol Venereol. 2019 Nov;33(11):2131-2136.Disclosure of Interests:Monica Calderón-Goercke: None declared, J. Gonzalo Ocejo-Vinyals: None declared, Juan Irure-Ventura: None declared, María Gutiérrez-Larrañaga: None declared, Miguel A González-Gay Grant/research support from: Pfizer, Abbvie, MSD, Speakers bureau: Pfizer, Abbvie, MSD, Iosune Vilanova: None declared, Juan Cantos-Mansilla: None declared, Ricardo Blanco Grant/research support from: AbbVie, MSD, and Roche, Speakers bureau: AbbVie, Pfizer, Roche, Bristol-Myers, Janssen, and MSD, Marcos González-López: None declared

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Verification allelic polymorphism's of genes MTHFR and MTR in patients with psoriasis

Faktori eksperimental'noi evolucii organizmiv ◽

10.7124/feeo.v21.865 ◽

1970 ◽

Vol 21 ◽

pp. 345-349

Author(s):

A. M. Fedota ◽

L. V. Roshcheniuk ◽

T. V. Tyzhnenko ◽

A. V. Admakina ◽

I. V. Horaichuk ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Molecular Genetic ◽

Molecular Genetic Analysis ◽

Severe Form ◽

Mthfr Gene ◽

Genotype Distribution ◽

Nucleotide Polymorphisms ◽

Aim Analysis ◽

Single Nucleotide ◽

Significant Difference

Aim. Analysis of single nucleotide polymorphisms C677T, A1298C and A2756G of MTHFR and MTR one-carbon metabolism genes in patients with various forms of psoriasis in Ukrainian population. Methods. A molecular genetic analysis of 77 patients with vulgaris and arthropathic psoriasis by PCR-RFLP was carried out. Results. In patients with vulgaris and arthropathic psoriasis analysis of the distribution of frequencies of genotypes showed a statistically significant difference between them for C677T polymorphic variants. In patients with psoriasis analysis of genotype distribution of series in the two genes as a whole, showed a statistically significant difference between the theoretically expected and actual frequencies for single nucleotide polymorphisms A1298T and A2756G of MTHFR and MTR genes. Conclusions. Among patients with arthropatic psoriasis, which is the most severe form of psoriasis, the homozygotes for the wild-type allele G of A2756G of MTR gene are more rarely, homozygotes of the TT of C667T of MTHFR gene are found more common than among psoriasis vulgaris patients, which may indicate the contribution of other genes to the development of arthropatic psoriasis. Keywords: psoriasis, arthropatic psoriasis, folate cycle, MTHFR gene, MTR gene.

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