The Role of Keratin-8 and Keratin-18 Polymorphisms and Protein Levels in the Occurrence and Progression of Vocal Leukoplakia

ORL ◽  
2021 ◽  
pp. 1-10
Author(s):  
Yue Yang ◽  
Jian Zhou ◽  
Peijie He ◽  
Haitao Wu
Keyword(s):  
Laryngeal Squamous Cell Carcinoma ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Tissue Protein ◽  
Protein Levels ◽  
Increased Risk ◽  
Keratin 8 ◽  
Keratin 18 ◽  
Control Study

<b><i>Objective:</i></b> This study aimed to evaluate the association between the single-nucleotide polymorphism (SNP) and tissue protein level of keratin-8/18 and the occurrence and progression of vocal leukoplakia. <b><i>Methods:</i></b> The case-control study enrolled 158 patients with vocal leukoplakia, 326 patients with laryngeal squamous cell carcinoma (LSCC), and 268 healthy controls, which were tested for genotype analysis with keratin-8 and keratin-18 gene polymorphisms using pyrosequencing. The tissue protein expression levels of keratin-8 and keratin-18 were evaluated using immunohistochemistry. <b><i>Results:</i></b> The keratin-8 SNP RS1907671 showed an obvious increased risk for vocal leukoplakia (OR 1.56, <i>p</i> = 0.002), while the other SNPs (RS2035875, RS2035878, RS4300473) were tested as protective factors for vocal leukoplakia and LSCC (OR &#x3c;1, <i>p</i> &#x3c; 0.05). In keratin-18 SNP test, both RS2070876 and RS2638526 polymorphisms demonstrated decreased risks for vocal leukoplakia and LSCC (OR &#x3c;1, <i>p</i> &#x3c; 0.05). The protein levels of keratin-8 and keratin-18 in vocal leukoplakia group were significantly higher than those of the LSCC group (<i>p</i> &#x3c; 0.05). <b><i>Conclusions:</i></b> Keratin-8 and keratin-18 polymorphisms and protein levels are associated with the occurrence and progression of vocal leukoplakia.

scholarly journals Single nucleotide polymorphism of bone morphogenetic protein 4 gene: A risk factor of non-syndromic cleft lip with or without palate

2015 ◽  
Vol 48 (02) ◽  
pp. 159-164 ◽  
Author(s):  
Sathyaprasad Savitha ◽  
S. M. Sharma ◽  
Shetty Veena ◽  
R. Rekha
Keyword(s):  
Bone Morphogenetic Protein ◽  
Cleft Lip ◽  
Paediatric Population ◽  
Single Nucleotide ◽  
Morphogenetic Protein ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Bmp Signalling ◽  
Control Study

ABSTRACT Background: The bone morphogenetic protein (BMP) signalling pathway is crucial in a number of developmental processes and is critical in the formation of variety of craniofacial elements including cranial neural crest, facial primordium, tooth, lip and palate. It is an important mediator in regulation of lip and palate fusion, cartilage and bone formation. Aim: To study the role of mutation of BMP4 genes in the aetiology of non-syndromic cleft lip with or without palate (NSCL ± P) and identify it directly from human analyses. Materials and Methods: A case-control study was done to evaluate whether BMP4T538C polymorphism, resulting in an amino acid change of Val=Ala (V152A) in the polypeptide, is associated with NSCL ± P in an Indian paediatric population. Genotypes of 100 patients with NSCL ± P and 100 controls (in whom absence of CL ± P was confirmed in three generations) were detected using a polymerase chain reaction-restriction fragment length polymorphism strategy. Logistic regression was performed to evaluate allele and genotype association with NSCLP. Results: Results showed significant association between homozygous CC genotype with CL ± P (odds ratio [OR]-5.59 and 95% confidence interval [CI] = 2.85-10.99). The 538C allele carriers showed an increased risk of NSCL ± P as compared with 538 T allele (OR - 4.2% CI = 2.75-6.41). Conclusion: This study suggests an association between SNP of BMP4 gene among carriers of the C allele and increased risk for NSCLP in an Indian Population. Further studies on this aspect can scale large heights in preventive strategies for NSCLP that may soon become a reality.

scholarly journals Genetic variants in CYP4F2 were significantly correlated with susceptibility to ischemic stroke

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Yuan Wu ◽  
Junjie Zhao ◽  
Yonglin Zhao ◽  
Tingqin Huang ◽  
Xudong Ma ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Chi Squared ◽  
Cytochrome P450 Family ◽  
Stratified Analysis ◽  
Control Study

Abstract Background Ischemic stroke (IS) is a serious cardiovascular disease and is associated with several single nucleotide polymorphisms (SNPs). However, the role of Cytochrome P450 family 4 subfamily F member 2 (CYP4F2) gene in IS remains unknown. Our study aimed to explore whether CYP4F2 polymorphisms influenced IS risk in the Han Chinese population. Methods We selected 477 patients and 495 controls to do a case-control study, and five SNPs in CYP4F2 gene were successfully genotyped. And we evaluated the associations using the Chi-squared test, independent sample t test, and genetic models analyses. Logistic regression analysis was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs). Results In this study, rs12459936 and rs3093144 were associated with IS risk in the overall. After stratified analysis by age (> 61 years), rs3093193 and rs3093144 were related to an increased risk of IS, whereas rs12459936 was related to a decreased risk of IS. In addition, we found that three SNPs (rs3093193, rs3093144 and rs12459936) were associated with the susceptibility to IS in males. We also found five SNPs in the CYP4F2 gene had strong linkage. Conclusions Three SNPs (rs3093193, rs3093144 and rs12459936) in the CYP4F2 were associated with IS risk in a Chinese Han population. And, CYP4F2 gene may be involved in the development of IS.

scholarly journals Association between TLR-9 gene rs187084 polymorphism and knee osteoarthritis in a Chinese population

2017 ◽  
Vol 37 (5) ◽  
Author(s):  
Mingfeng Zheng ◽  
Shiyuan Shi ◽  
Qi Zheng ◽  
Yifan Wang ◽  
Xiaozhang Ying ◽  
...  
Keyword(s):  
Chinese Population ◽  
Complex Disease ◽  
Old People ◽  
Single Nucleotide ◽  
Knee Oa ◽  
Ethnic Populations ◽  
Risk Variants ◽  
Increased Risk ◽  
Control Study

Osteoarthritis (OA) is a complex disease that is induced by many genetic risk variants and other factors. To examine the role of toll-like receptor 9 (TLR-9) in OA patients, we conducted a case–control study involving 215 knee OA (KOA) patients and 215 controls in a Chinese population. Genotyping with a custom-by-design 48-Plex single nucleotide polymorphism Scan™ Kit showed the TLR-9 gene rs187084 polymorphism was associated with an increased risk of KOA. Stratification analyses further validated this finding among old people (age ≥ 55 years). In conclusion, TLR-9 gene rs187084 polymorphism is positively correlated with susceptibility to KOA, especially among old people. Nevertheless, this finding should be confirmed by larger size studies with more ethnic populations.

scholarly journals The Role of Collagen Genetic Discrepancies in Development of Pelvic Organ Prolapse in Women: A Study with Negative Results

2020 ◽  
Vol I (1) ◽  
pp. 12-16
Author(s):  
Hirron Fernando
Keyword(s):  
Pelvic Organ Prolapse ◽  
Meta Analysis ◽  
Pelvic Organ ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
The Past ◽  
Negative Results ◽  
Increased Risk ◽  
History Of

Pelvic organ prolapse has a mixed aetiology – hereditary and acquired. During last decade, the role of genetics in POP becomes profoundly obvious. women with a family history of prolapse are at an increased risk of prolapse refractory to treatment. Careful literature review from the past studies reveals that several genetic mutations have been shown to correlate with increased prolapse susceptibility. These mutations can result in disordered collagen metabolism, which weaken the fascial support of the pelvic organs. This prompt us to undertake the above study, look more into genetic discrepancies and pelvic organ prolapse contemporary studies relate to this topic shows that Collagen is playing a major role in pelvic floor supportive structures. However role of single nucleotide polymorphism (SNP) of the COL1A1 or COL3A1 or COL18A1 genes remain controversial relate to pelvic organ prolapse. Some studies and meta-analysis found a strict correlation between these genetic defects and POP.

scholarly journals The Role of Collagen Genetic Discrepancies in Development of Pelvic Organ Prolapse in Women: A Study with Negative Results

2020 ◽  
Vol I (1) ◽  
pp. 12-16
Author(s):  
Hirron Fernando
Keyword(s):  
Pelvic Organ Prolapse ◽  
Meta Analysis ◽  
Pelvic Organ ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
The Past ◽  
Negative Results ◽  
Increased Risk ◽  
History Of

Pelvic organ prolapse has a mixed aetiology – hereditary and acquired. During last decade, the role of genetics in POP becomes profoundly obvious. women with a family history of prolapse are at an increased risk of prolapse refractory to treatment. Careful literature review from the past studies reveals that several genetic mutations have been shown to correlate with increased prolapse susceptibility. These mutations can result in disordered collagen metabolism, which weaken the fascial support of the pelvic organs. This prompt us to undertake the above study, look more into genetic discrepancies and pelvic organ prolapse contemporary studies relate to this topic shows that Collagen is playing a major role in pelvic floor supportive structures. However role of single nucleotide polymorphism (SNP) of the COL1A1 or COL3A1 or COL18A1 genes remain controversial relate to pelvic organ prolapse. Some studies and meta-analysis found a strict correlation between these genetic defects and POP.

scholarly journals Genetic polymorphism for IFNγ +874T/A in patients with acute toxoplasmosis

2012 ◽  
Vol 45 (6) ◽  
pp. 757-760 ◽  
Author(s):  
Elizabeth de Souza Neves ◽  
André Luis Land Curi ◽  
Maira Cavalcanti de Albuquerque ◽  
Cassius Schnel Palhano-Silva ◽  
Laura Berriel da Silva ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Case Control Study ◽  
Severe Disease ◽  
Clinical Manifestations ◽  
Nucleotide Polymorphism ◽  
Gene Encoding ◽  
Single Nucleotide ◽  
Duration Of Disease ◽  
Acute Toxoplasmosis ◽  
Control Study

INTRODUCTION: A single nucleotide polymorphism (SNP) in the gene encoding gamma interferon influences its production and is associated with severity of infectious diseases. This study aimed to evaluate the association of IFNγ+874T/A SNP with duration of disease, morbidity, and development of retinochoroiditis in acute toxoplasmosis. METHODS: A case-control study was conducted among 30 patients and 90 controls. RESULTS: Although statistical associations were not confirmed, A-allele was more common among retinochoroiditis cases and prolonged illness, while T-allele was more frequent in severe disease. CONCLUSIONS: Despite few cases, the results could indicate a relation between IFNγ+874T/A single nucleotide polymorphism and clinical manifestations of toxoplasmosis.

scholarly journals Prevalence of ACSL (rs6552828) polymorphism among runners

2019 ◽  
Vol 24 ◽  
pp. 121-128
Author(s):  
Sigal Ben-Zaken ◽  
Yoav Meckel ◽  
Dan Nemet ◽  
Alon Eliakim
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Genetic Basis ◽  
Maximal Oxygen Consumption ◽  
Professional Athletes ◽  
Distance Runners ◽  
Nucleotide Polymorphism ◽  
Long Distance ◽  
Single Nucleotide ◽  
The Common

The ACSL A/G polymorphism is associated with endurance trainability. Previous studies have demonstrated that homozygotes of the minor AA allele had a reduced maximal oxygen consumption response to training compared to the common GG allele homozygotes, and that the ACSL A/G single nucleotide polymorphism explained 6.1% of the variance in the VO2max response to endurance training. The contribution of ACSL single nucleotide polymorphism to endurance trainability was shown in nonathletes, however, its potential role in professional athletes is not clear. Moreover, the genetic basis to anaerobic trainability is even less studied. Therefore, the aim of the present study was to examine the prevalence of ACSL single nucleotide polymorphism among professional Israeli long distance runners (n=59), middle distance runners (n=31), sprinters and jumpers (n=48) and non-athletic controls (n=60). The main finding of the present study was that the ACSL1 AA genotype, previously shown to be associated with reduced endurance trainability, was not higher among sprinters and jumpers (15%) compared to middle- (16%) and long-distance runners (15%). This suggests that in contrast to previous studies indicating that the ACSL1 single nucleotide polymorphism may influence endurance trainability among non-athletic individuals, the role of this polymorphism among professional athletes is still not clear.

scholarly journals A Cotton-Fiber-Associated Cyclin-Dependent Kinase A Gene: Characterization and Chromosomal Location

2012 ◽  
Vol 2012 ◽  
pp. 1-10 ◽  
Author(s):  
Weifan Gao ◽  
Sukumar Saha ◽  
Din-Pow Ma ◽  
Yufang Guo ◽  
Johnie N. Jenkins ◽  
...  
Keyword(s):  
Cotton Fiber ◽  
Sequence Data ◽  
Snp Markers ◽  
Pcr Analysis ◽  
Cyclin Dependent Kinase ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Gene Characterization ◽  
Protein Levels ◽  
Catalytic Domains

A cotton fiber cDNA and its genomic sequences encoding an A-type cyclin-dependent kinase (GhCDKA) were cloned and characterized. The encoded GhCDKA protein contains the conserved cyclin-binding, ATP binding, and catalytic domains. Northern blot and RT-PCR analysis revealed that the GhCDKA transcript was high in 5–10 DPA fibers, moderate in 15 and 20 DPA fibers and roots, and low in flowers and leaves. GhCDKA protein levels in fibers increased from 5–15 DPA, peaked at 15 DPA, and decreased from 15 t0 20 DPA. The differential expression of GhCDKA suggested that the gene might play an important role in fiber development. The GhCDKA sequence data was used to develop single nucleotide polymorphism (SNP) markers specific for the CDKA gene in cotton. A primer specific to one of the SNPs was used to locate the CDKA gene to chromosome 16 by deletion analysis using a series of hypoaneuploid interspecific hybrids.

Sign in / Sign up

Export Citation Format

Share Document