Role of polymorphisms of MSX1 and PAX9 genes in palatal impaction of maxillary canines

Objective: Maxillary canines are the second-most commonly impacted teeth. About two-thirds of the impacted maxillary canines are palatally impacted. Studies in the past have shown that 40% of cases with palatal impaction of maxillary canines presented with agenesis of third molars. Sporadic agenesis of third molars have been associated with polymorphisms in the MSX1 and PAX9 genes. The present study aims at evaluating the association between polymorphisms of PAX9, MSX1 and palatally impacted canines in a random population sample. Design and setting: Fifty individuals with palatally impacted maxillary canines and 50 gender and age-matched controls were included in this study. Methods: Single nucleotide polymorphisms (SNPs), rs12532 of MSX1 and rs2073247 of PAX9, were genotyped using polymerase chain reaction and restriction fragment length polymorphism. The significance of the differences among the groups was assessed by odds ratio and Chi-squared test with a 95% confidence interval Results: Single nucleotide polymorphisms rs12532 [MSX1] and rs 2073247 [PAX9] showed a statistically significant association with palatal impaction of maxillary canines. In addition, the combined presence of the AG/CT genotypes of these genes in an individual caused a significant increase in the risk for palatal impaction. Conclusion: These results suggest that the rs12532 and rs2073247 polymorphisms of genes MSX1 and PAX9 are positively associated with palatal impaction of maxillary canines. Future studies investigating various other SNPs of these genes in a larger sample of different populations could provide clinching details.

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Single-nucleotide polymorphisms: a perspective of cardiovascular prevention

Revista da Associação Médica Brasileira ◽

10.1590/1806-9282.61.05.458 ◽

2015 ◽

Vol 61 (5) ◽

pp. 458-468 ◽

Cited By ~ 1

Author(s):

Guilherme Brasil Grezzana ◽

José Luiz da Costa Vieira ◽

Vera Lúcia Portal

Keyword(s):

Single Nucleotide Polymorphisms ◽

Cardiovascular Prevention ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Heart Attacks ◽

Clinical Scenarios ◽

Different Populations ◽

Clinical Conditions

Summary Introduction: several studies have evaluated the utilization of lipid biomarkers in an attempt to correlate them with clinical cardiovascular events. Nevertheless, the investigation of clinical conditions under specific plasmatic levels of lipoproteins for long periods presents limitations due to inherent difficulties that are related to the follow-up of individuals throughout their lives. Better understanding of the clinical response and occasional resistance to the action of hypolipidemic drugs in several clinic scenarios is also necessary. Objectives: to determine the role of evaluation of single-nucleotide polymorphisms (SNPs) related to the metabolism of lipids, and its implications in different clinical scenarios. Methods: a search of the literature in English and Spanish languages was performed in Medline, Lilacs via Bireme, IBECS via Bireme, and Cochrane databases. The expected results included information regarding plasmatic lipid profile and SNPs, cardiovascular clinical outcomes and polymorphisms related to the effectiveness of statins in the treatment of hypercholesterolemia. Results: in order to perform this analysis, 19 studies were included from a total of 89 identified citations. The evaluation of the results suggests that low plasmatic levels of LDL-c are associated with a reduction in the risk of heart attacks, although this was not observed for the rise of plasmatic levels of HDL-c. Conclusion: polymorphisms in different populations and clinical perspectives may bring important contributions for a better understanding and adequacy of plasmatic lipoproteins aiming at reducing cardiovascular risk.

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Role of ADAM33 Gene and Associated Single Nucleotide Polymorphisms in Asthma

Allergy & Rhinology ◽

10.2500/ar.2011.2.0018 ◽

2011 ◽

Vol 2 (2) ◽

pp. ar.2011.2.0018 ◽

Cited By ~ 9

Author(s):

Neeraj Sharma ◽

Priya Tripathi ◽

Shally Awasthi

Keyword(s):

Single Nucleotide Polymorphisms ◽

Ethnic Groups ◽

Gene Polymorphisms ◽

Airway Remodeling ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Pubmed Search ◽

Different Populations ◽

Genetic And Environmental Factors

Asthma is a multifactorial disorder, primarily resulting from interactions between genetic and environmental factors. ADAM33 gene (located on chromosome 20p13) has been reported to play an important role in asthma. This review article is intended to include all of the publications, to date, which have assessed the association of ADAM33 gene polymorphisms as well as have shown the role of ADAM33 gene in airway remodeling and their expression with asthma. A PubMed search was performed for studies published between 1990 and 2010. The terms “ADAM33,” “ADAM33 gene and asthma,” and “ADAM33 gene polymorphisms” were used as search criteria. Based on available literature we can only speculate its role in the morphogenesis and functions of the lung. Fourteen studies conducted in different populations were found showing an association of ADAM33 gene polymorphisms with asthma. However, none of the single nucleotide polymorphisms (SNPs) of ADAM33 gene had found association with asthma across all ethnic groups. Because higher expression of ADAM33 is found in the fibroblast and smooth muscle cells of the lung, over- or underexpression of ADAM33 gene may result in alterations in airway remodeling and repair processes. However, no SNP of ADAM33 gene showed significant associations with asthma across all ethnic groups; the causative polymorphism, if any, still has to be identified.

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Analysis of the involvement of single nucleotide polymorphisms of redox-homeostasis genes in the development of isolated and comorbid cardioand cerebrovascular diseases

Nauchno-prakticheskii zhurnal «Medicinskaia genetika» ◽

10.25557/2073-7998.2020.09.37-49 ◽

2020 ◽

pp. 37-49

Author(s):

О.Ю. Бушуева

Keyword(s):

Single Nucleotide Polymorphisms ◽

Redox Homeostasis ◽

Total Sample ◽

Cerebrovascular Diseases ◽

Cerebral Stroke ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Gender And Age ◽

Additive Regression Model ◽

Additive Regression

Распространенные и зачастую сочетающиеся кардио- и цереброваскулярные заболевания (КЦВЗ), включающие артериальную гипертензию (АГ), ишемическую болезнь сердца (ИБС) и мозговой инсульт (МИ), представляют собой основную причину смертности во всем мире. Окислительный стресс имеет множество патологических эффектов на сосудистый гомеостаз и в настоящее время рассматривается как один из общих механизмов развития КЦВЗ. Целью исследования было изучение ассоциации однонуклеотидных полиморфизмов генов редокс-гомеостаза rs2070424 SOD1, rs4880 SOD2, rs769214 CAT, rs713041 GPX4, rs41303970 GCLM, rs17883901 GCLC, rs854560 PON1, rs7493 PON2, rs1695 GSTP1, rs2266782 FMO3 с развитием изолированных и сочетанных форм КЦВЗ. Материалом для исследования послужила выборка неродственных индивидов славянского происхождения, общей численностью 2702 человека. В исследование вошли 1815 пациентов с различными кардио- и цереброваскулярными заболеваниями и их сочетаниями: с изолированной АГ (иАГ), с изолированной ишемической болезнью сердца (иИБС), с сочетанием АГ и ИБС (АГ+ИБС), с мозговым инсультом (МИ) на фоне АГ (АГ+МИ); с коморбидной кардио- и цереброваскулярной патологией (АГ+ИБС+МИ). Из общей выборки здоровых лиц (N=887) были сформированы 5 контрольных групп, соответствующих по полу и возрасту каждой из групп нозологических форм заболеваний. Генотипирование SNP проводили методом ПЦР в режиме реального времени путем дискриминации аллелей с помощью TaqMan-зондов. Для анализа ассоциаций генотипов с развитием заболеваний пользовались лог-аддитивной регрессионной моделью. Все расчеты выполнены относительно минорного аллеля; введены поправки на пол и возраст. SNP rs1695 GSTP1 был связан исключительно с развитием иАГ (OR=1,19, 95%CI=1,01-1,39, р=0,034). SNP rs7493 PON2 был связан с развитием всех исследованных коморбидных кардио- и цереброваскулярных заболеваний: АГ+ИБС (adjOR=1,32, adj95%CI=1,07-1,63, adjp=0,01); АГ+МИ (adjOR=1,79, adj95%CI=1,45-2,21, adjp<0,0001); АГ+ИБС+МИ (adjOR=1,51, adj95%CI=1,09-2,09, adjp=0,01), а также с укорочением протромбинового времени (adjDifference=-0,35; adjp=0,01). SNP rs2266782 FMO3 был связан с фенотипом АГ+МИ (adjOR=1,24, adj95%CI=1,02-1,51, adjp=0,03), а также снижал возраст манифестации МИ (adjDifference=-2,31; adjp=0,03). Таким образом, установлено, что однонуклеотидные полиморфизмы генов редокс-гомеостаза могут представлять важную генетическую компоненту формирования дифференцированности кардио- и цереброваскулярных фенотипов. Common and often comorbid cardio- and cerebrovascular diseases (CCVD), including arterial hypertension (AH), coronary heart disease (CHD), and cerebral stroke (CS), are the leading cause of death worldwide. Oxidative stress has many pathological effects on vascular homeostasis and is currently regarded as one of the common mechanisms for the development of CCVD. The aim of our study was to investigate the association of single nucleotide polymorphisms of the redox-homeostasis genes rs2070424 SOD1, rs4880 SOD2, rs769214 CAT, rs713041 GPX4, rs41303970 GCLM, rs17883901 GCLC, rs854560 PON1, rs7493 PON2, rs1695 GSTP1, rs2266782 FMO3 with the development of isolated and comorbid CCVD. A total 2702 individuals of Slavic origin were included for this study. The patients group included 1815 subjects with various CCVD and their combinations: isolated AH (IAH); isolated IHD (IIHD), combination of AH and IHD (AH+IHD); combination of AH and CS (AH+CS); comorbid cardio- and cerebrovascular pathology (AH+IHD+CS). From the total sample of healthy individuals (N=887), 5 sex- and age-matched control groups were formed. Genotyping was performed using TaqMan-based PCR. To analyze the associations of genotypes with the risk of diseases, a log-additive regression model was used. All calculations were performed relative to the minor allele; corrections for gender and age have been introduced. SNP rs1695 GSTP1 was associated with IAH exclusively (OR=1.19, 95%CI=1.01-1.39, P=0.034). SNP rs7493 PON2 was associated with the development of all studied comorbid CCVD: AH+IHD (adjOR=1.32, adj95%CI=1.07-1.63, adjP=0.01); AH+CS (adjOR=1.79, adj95%CI=1.45-2.21, adjP<0.0001); AH+IHD+CS (adjOR=1.51, adj95%CI=1.09-2.09, adjP=0.01), as well as shortening of prothrombin time (adjDifference=-0.35; adjP=0.01). SNP rs2266782 FMO3 was associated with the development of AH+CS (adjOR=1.24, adj95%CI=1.02-1.51, adjP=0.03), as well as decreased age of manifestation of CS (adjDifference=-2.31; adjP=0.03). Thus, it was found that genes involved in regulation of redox-homeostasis, can represent an important genetic component in the formation of differentiation of cardio- and cerebrovascular phenotypes.

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The role of 25-hydroxyvitamin-D3 and vitamin D receptor gene in human periodontal ligament fibroblasts as response to orthodontic compressive strain: an in vitro study

BMC Oral Health ◽

10.1186/s12903-021-01740-8 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Erika Calvano Küchler ◽

Agnes Schröder ◽

Vinicius Broska Teodoro ◽

Ute Nazet ◽

Rafaela Scariot ◽

...

Keyword(s):

Gene Expression ◽

Vitamin D ◽

Single Nucleotide Polymorphisms ◽

Periodontal Ligament ◽

Compressive Strain ◽

Nucleotide Polymorphisms ◽

Periodontal Ligament Fibroblasts ◽

Single Nucleotide ◽

Cox 2

Abstract Background This study aimed to investigate, if different physiological concentrations of vitamin D (25(OH)D3) and single nucleotide polymorphisms in vitamin D receptor (VDR) gene have an impact on gene expression in human periodontal ligament (hPDL) fibroblasts induced by simulated orthodontic compressive strain. Methods A pool of hPDL fibroblasts was treated in absence or presence of 25(OH)D3 in 3 different concentrations (10, 40 and 60 ng/ml). In order to evaluate the role of single nucleotide polymorphisms in the VDR gene, hPDL fibroblasts from 9 patients were used and treated in absence or presence of 40 ng/ml 25(OH)D3. Each experiment was performed with and without simulated orthodontic compressive strain. Real-time PCR was used for gene expression and allelic discrimination analysis. Relative expression of dehydrocholesterol reductase (DHCR7), Sec23 homolog A, amidohydrolase domain containing 1 (AMDHD1), vitamin D 25-hydroxylase (CYP2R1), Hydroxyvitamin D-1-α hydroxylase, receptor activator of nuclear factor-κB ligand (RANKL), osteoprotegerin (OPG), cyclooxygenase-2 (COX-2) and interleukin-6 (IL6) was assessed. Three single nucleotide polymorphisms in VDR were genotyped. Parametric or non-parametric tests were used with an alpha of 5%. Results RANKL, RANKL:OPG ratio, COX-2, IL-6, DHCR7, CYP2R1 and AMDHD1 were differentially expressed during simulated orthodontic compressive strain (p < 0.05). The RANKL:OPG ratio was downregulated by all concentrations (10 ng/ml, 40 ng/ml and 60 ng/ml) of 25(OH)D3 (mean = 0.96 ± 0.68, mean = 1.61 ± 0.66 and mean = 1.86 ± 0.78, respectively) in comparison to the control (mean 2.58 ± 1.16) (p < 0.05). CYP2R1 gene expression was statistically modulated by the different 25(OH)D3 concentrations applied (p = 0.008). Samples from individuals carrying the GG genotype in rs739837 presented lower VDR mRNA expression and samples from individuals carrying the CC genotype in rs7975232 presented higher VDR mRNA expression (p < 0.05). Conclusions Simulated orthodontic compressive strain and physiological concentrations of 25(OH)D3 seem to regulate the expression of orthodontic tooth movement and vitamin-D-related genes in periodontal ligament fibroblasts in the context of orthodontic compressive strain. Our study also suggests that single nucleotide polymorphisms in the VDR gene regulate VDR expression in periodontal ligament fibroblasts in the context of orthodontic compressive strain.

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Clinical outcome of patients with follicular lymphoma receiving chemoimmunotherapy in the PRIMA study is not affected by FCGR3A and FCGR2A polymorphisms

Blood ◽

10.1182/blood-2012-05-431825 ◽

2012 ◽

Vol 120 (13) ◽

pp. 2650-2657 ◽

Cited By ~ 39

Author(s):

Hervé Ghesquières ◽

Guillaume Cartron ◽

John Francis Seymour ◽

Marie-Hélène Delfau-Larue ◽

Fritz Offner ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Follicular Lymphoma ◽

Response Rate ◽

Single Agent ◽

Progression Free Survival ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Free Survival ◽

Rituximab Maintenance

Abstract In patients with follicular lymphoma treated with single-agent rituximab, single nucleotide polymorphisms in the FCGR3A gene are known to influence response and progression-free survival. The prognostic role of FCGR3A and FCGR2A polymorphisms in patients with follicular lymphoma treated with rituximab and chemotherapy combination remains controversial and has not been evaluated in the context of rituximab maintenance. FCGR3A and FCGR2A single nucleotide polymorphisms were evaluated in, respectively, 460 and 455 patients treated in the PRIMA study to investigate whether these were associated with response rate and patient outcome after rituximab chemotherapy induction and 2-year rituximab maintenance. In this representative patient cohort, complete and unconfirmed complete responses after rituximab chemotherapy were observed in 65%, 67%, 66% (P = .86) and 60%, 72%, 66% (P = .21) of FCGR3A VV, VF, FF and FCGR2A HH, HR, RR carriers, respectively. After 2 years of rituximab maintenance (or observation), response rates did not differ among the different genotypes. Progression-free survival measured from either treatment initiation or randomization to observation or maintenance was not influenced by these polymorphisms. These data indicate that FCGR3A and FCGR2A polymorphisms do not influence response rate and outcome when rituximab is combined with chemotherapy or used as maintenance treatment. The PRIMA study is registered at www.clinicaltrials.gov as NCT00140582.

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Causal Role of Single Nucleotide Polymorphisms within themprFGene of Staphylococcus aureus in Daptomycin Resistance

Antimicrobial Agents and Chemotherapy ◽

10.1128/aac.01184-13 ◽

2013 ◽

Vol 57 (11) ◽

pp. 5658-5664 ◽

Cited By ~ 48

Author(s):

Soo-Jin Yang ◽

Nagendra N. Mishra ◽

Aileen Rubio ◽

Arnold S. Bayer

Keyword(s):

Staphylococcus Aureus ◽

Single Nucleotide Polymorphisms ◽

Point Mutations ◽

Nucleotide Polymorphisms ◽

Wild Type ◽

Single Nucleotide ◽

Content Type ◽

Reading Frame ◽

A Charge

ABSTRACTSingle nucleotide polymorphisms (SNPs) within themprFopen reading frame (ORF) have been commonly observed in daptomycin-resistant (DAPr)Staphylococcus aureusstrains. Such SNPs are usually associated with a gain-in-function phenotype, in terms of either increased synthesis or enhanced translocation (flipping) of lysyl-phosphatidylglycerol (L-PG). However, it is unclear if suchmprFSNPs are causal in DAPrstrains or are merely a biomarker for this phenotype. In this study, we used an isogenic set ofS. aureusstrains: (i) Newman, (ii) its isogenic ΔmprFmutant, and (iii) several intransplasmid complementation constructs, expressing either a wild-type or point-mutated form of themprFORF cloned from two isogenic DAP-susceptible (DAPs)-DAPrstrain pairs (616-701 and MRSA11/11-REF2145). Complementation of the ΔmprFstrain with singly point-mutatedmprFgenes (mprFS295LormprFT345A) revealed that (i) individual and distinct point mutations within themprFORF can recapitulate phenotypes observed in donor strains (i.e., changes in DAP MICs, positive surface charge, and cell membrane phospholipid profiles) and (ii) these gain-in-function SNPs (i.e., enhanced L-PG synthesis) likely promote reduced DAP binding toS. aureusby a charge repulsion mechanism. Thus, for these two DAPrstrains, the definedmprFSNPs appear to be causally related to this phenotype.

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An Updated Review on the Role of Single Nucleotide Polymorphisms in COVID-19 Disease Severity: A Global Aspect

Current Pharmaceutical Biotechnology ◽

10.2174/1389201023666220114162347 ◽

2022 ◽

Vol 23 ◽

Author(s):

Jun Wei Ng ◽

Eric Tzyy Jiann Chong ◽

Ping-Chin Lee

Keyword(s):

Single Nucleotide Polymorphisms ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Angiotensin Converting Enzyme 2 ◽

Global Pandemic ◽

Global Aspect ◽

Common Risk Factors ◽

Severity Of The Disease ◽

Ace2 Gene

Abstract: Coronavirus disease 2019 (COVID-19) is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and recently has become a serious global pandemic. Age, gender, and comorbidities are known to be common risk factors for severe COVID-19 but are not enough to fully explain the magnitude of their effect on the risk of severity of the disease. Single nucleotide polymorphisms (SNPs) in several genes have been reported as a genetic factor contributing to COVID-19 severity. This comprehensive review focuses on the association between SNPs in four important genes and COVID-19 severity in a global aspect. We discuss a total of 39 SNPs in this review: five SNPs in the ABO gene, nine SNPs in the angiotensin-converting enzyme 2 (ACE2) gene, 19 SNPs in the transmembrane protease serine 2 (TMPRSS2) gene, and six SNPs in the toll-like receptor 7 (TLR7) gene. These SNPs data could assist in monitoring an individual's risk of severe COVID-19 disease, and therefore personalized management and pharmaceutical treatment could be planned in COVID-19 patients.

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