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

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.

2020 ◽  
Vol I (1) ◽  
pp. 12-16
Author(s):  
Hirron Fernando

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.


Pteridines ◽  
2020 ◽  
Vol 31 (1) ◽  
pp. 9-17
Author(s):  
Dexia Li ◽  
Enxia Wang ◽  
Xia Gao ◽  
Ping Li

AbstractObjective To investigate the correlation between the methylenetetrahydrofolate reductase (MTHFR) gene 677C> T polymorphism and fetal congenital defects.Method Original studies relevant to the MTHFR gene 677C>T single nucleotide polymorphism and fetal congenital defects were systematically searched in the electronic databases of Medline, EMBSE and China National Knowledge Infrastructure (CNKI). All relevant publications were screened for inclusion in the present work. The correlation between the MTHFR gene 677C > T single nucleotide polymorphism and the occurrence of fetal congenital defects was expressed as an odds ratio (OR) and its 95% confidence interval (95% CI). Publication bias was assessed by Begg’s funnel plot and Egger’s line regression test.Results Nineteen case-control studies were ultimately included in the present meta-analysis. The pooled results indicated that the general risk of fetal congenital defects was significantly elevated in subjects with the 677T allele of the MTHFR gene in dominant (OR=1.07,95%CI:1.03-1.12, P<0.05), homozygous (OR=1.17,95%CI:1.06-1.30, P<0.05) and recessive genetic models (OR=1.16,95%CI:1.03-1.31, P<0.05) through the random effect method. However, significant publication bias was identified upon pooling the individual data and evaluating the correlation.Conclusion According to the present evidence, the MTHFR gene 677C>T single nucleotide polymorphism is correlated with poor pregnancy outcomes, and subjects with the T allele have an increased risk of developing general fetal congenital defects.


2019 ◽  
Author(s):  
Elizabeth Tipton ◽  
James E Pustejovsky ◽  
Hedyeh Ahmadi

At the beginning of the development of meta-analysis, understanding the role of moderators was given the highest priority, with meta-regression provided as a method for achieving this goal. Yet in current practice, meta-regression is not as commonly used as anticipated. This paper seeks to understand this mismatch by reviewing the history of meta-regression methods over the past 40 years. We divide this time span into four periods and examine three types of methodological developments within each period: technical, conceptual, and practical. Our focus is broad and includes development of methods in the fields of education, psychology, and medicine. We conclude the paper with a discussion of five consensus points, as well as open questions and areas of research for the future.


2008 ◽  
Vol 4 (2) ◽  
pp. 133-135 ◽  
Author(s):  
Iasmina M Craici ◽  
Steven J Wagner ◽  
Suzanne R Hayman ◽  
Vesna D Garovic

Evaluation of: Bellamy L, Casas JP, Hingorani AD, Williams DJ: Pre-eclampsia and risk of cardiovascular disease and cancer in later life: systematic review and meta-analysis. Br. Med. J. 335(7627), 974 (2007). Evidence has emerged over the years suggesting that women who develop hypertensive pregnancy disorders, most notably pre-eclampsia, are at an increased risk for cardiovascular disease later in life. In this study, a systematic review and meta-analysis were performed, assessing the future risks of cardiovascular disease, cancer and all-cause mortality in women with a history of pre-eclampsia and eclampsia. Women with a history of pre-eclampsia or eclampsia, compared with women without such a history, had an increased risk for cardiovascular disease, including a fourfold increased risk for hypertension, a twofold increased risk for ischemic heart disease, stroke and deep venous thrombosis, and a 1.5-times higher all-cause mortality. The study suggests that affected women may be eligible for preventive therapies at an earlier age, especially if future studies establish the role of pre-eclampsia as an independent cardiovascular risk factor.


2010 ◽  
Vol 38 (3) ◽  
pp. 446-449 ◽  
Author(s):  
JASPER C.A. BROEN ◽  
MARIEKE J.H. COENEN ◽  
BLANCA RUEDA ◽  
TORSTEN WITTE ◽  
LEONID PADYUKOV ◽  
...  

Objective.To investigate the role of the FcαRI 844 A>G functional polymorphism in the genetic predisposition to rheumatoid arthritis (RA) and systemic sclerosis (SSc) susceptibility.Methods.The study population was composed of 1401 patients with SSc, 642 patients with RA, and 1317 healthy controls. The FcαRI (CD89) single-nucleotide polymorphism rs16986050 was genotyped by pyrosequencing.Results.We observed no significant deviation of the genotype and allele frequencies in RA and SSc compared to controls. A metaanalysis and a recessive and dominant model yielded similar negative results.Conclusion.Our data show that the FcαRI 844 A>G polymorphism is not associated with SSc or RA susceptibility.


ORL ◽  
2021 ◽  
pp. 1-10
Author(s):  
Yue Yang ◽  
Jian Zhou ◽  
Peijie He ◽  
Haitao Wu

<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.


2021 ◽  
Author(s):  
Irene Lafuente-Ibáñez de Mendoza ◽  
Amaia Setien-Olarra ◽  
Ana María García-de la Fuente ◽  
José Manuel Aguirre-Urizar ◽  
Xabier Marichalar-Mendia

Abstract Background: To perform a systematic review and meta-analysis on the presence of IL-1β polymorphisms in patients with peri-implantitis (PI). PI is the main complication associated to dental implant therapy. Although its main risk factors are history of periodontitis, poor plaque control and lack of regular maintenance, genetic susceptibility could also be a determinant factor for its appearance. Single nucleotide polymorphisms (SNP) are small mutations of the DNA, that alter the osseointegration of implants. Interleukin 1β (IL-1β) is an inflammatory protein that participates in both destruction of the extracellular matrix and reabsorption of the alveolar bone.Methods: A bibliographical research was made in PubMed, Scopus and Web of Science (keywords: "single nucleotide polymorphism", “polymorphism”, "periimplantitis", "SNP" and "implant failure"). Results: There is no significant relation between of IL-1β (+3953) SNP and PI, but there is a statistically significant association of peri-implant bone loss with the homozygotic model of IL-1β (-511) (I2=0%, p=0.555; OR: 2.255; IC: 1.040-4.889)Conclusions: Absence of a strong link between of IL-1β polymorphisms and PI must be taken with caution due to the heterogeneous methodological design, sample size and diagnostic criteria of the studies. Thus, more well-designed studies are needed, that analyse the relationship between IL-1β polymorphism and PI.


2020 ◽  
Vol 52 (1) ◽  
pp. 36-46
Author(s):  
Mahdiyeh Harati-Sadegh ◽  
Milad Mohammadoo-Khorasani ◽  
Saman Sargazi ◽  
Ramin Saravani ◽  
Sheida Shahraki ◽  
...  

Abstract Objective Growing evidence suggests that IL-1β -511C&gt;T, as a functional variant, affects the risk of developing breast cancer (BC); however, the results have not been conclusive. This meta-analysis was conducted to estimate the link between this variant and BC risk. Methods We retrieved available publications on IL-1β -511C&gt;T polymorphism by conducting a comprehensive literature search on the Web of Science, MEDLINE, PubMed, Scopus, and Google scholar databases (last search on February 25, 2020). Results The overall analysis indicates that IL-1β -511C&gt;T polymorphism conferred an increased risk of BC under a recessive TT vs CT+CC model by 1.14-fold and showed protection against BC under an overdominant CT vs TT+CC genetic contrast model (odds ratio = 0.84). Stratified analysis based on ethnicity revealed the protective effect of this single-nucleotide polymorphism against BC risk in Caucasian patients. Conclusion Our data results provide a proof of concept for the association of IL-1β -511C&gt;T with BC risk. Larger, well-designed population-based studies are needed to confirm these findings.


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