scholarly journals Combined Effect of Telomere Length and Mitochondrial DNA Copy Number As a Potential Biomarker Indicating PE Risk: a Case-Control Study in a Chinese Population

2022 ◽  
Author(s):  
Ruyi Zhang ◽  
Jiangbo Du ◽  
Zhendong Xiao ◽  
Yuan Jiang ◽  
Qiao Weng ◽  
...  
Keyword(s):  
Cord Blood ◽  
Telomere Length ◽  
Copy Number ◽  
Case Control Study ◽  
Quantitative Polymerase Chain Reaction ◽  
Maternal Blood ◽  
Case Control ◽  
Combined Effect ◽  
Potential Biomarker ◽  
Control Study

Abstract Purpose To explore changes of Telomere length (TL) and mitochondrial copy number (mtDNA-CN) in preeclampsia (PE) and to evaluatethe combined effect of maternal TL and mtDNA-CN on PE risk.Methods A case-control study of 471 subjects (130 PE cases and 341 age frequency matched controls) was conducted in Nanjing Drum Tower Hospital, Jiangsu Province of China. Relative telomere length (RTL) and mtDNA-CN were measured using quantitative polymerase chain reaction (qPCR) and PE risk was calculated between groups by logistic regression analyses.Results PE patients displayed longer RTL (0.48 versus 0.30) and higher mtDNA-CN (3.02 versus 2.00) in maternal bloodas well as longer cord blood RTL(0.61 versus 0.35) but lower mtDNA-CN (1.69 versus 5.49) in cord blood (all p<0.001). Exercise during pregnancy exerted an obvious effect of prolonging maternal telomere length. Multiparous, women with folic acid intake during early pregnancy and those delivered vaginally showed longer telomere length while those factors imposed no or opposite effect on RTL in PE cases. Furthermore, RTL and mtDNA-CN were positively correlated in controls (in maternal blood r=0.18, p<0.01; in cord blood r=0.19, p<0.001), but this correlation was disrupted in PE cases, no matter in maternal blood or in cord blood. Longer maternal RTL and higher mtDNA-CN were associated with higher risk of PE, and the ROC curve of RTL and mtDNA-CN in predicting PE risk presented an AUC of 0.755(95%CI: 0.698-0.812).Conclusions Interaction of TL and mtDNA-CN may play an important role in pathogenesis of PE and it could be a potential biomarker indicating PE risk.

Inflammatory and oxidative parameters in cord blood as diagnostic of early-onset neonatal sepsis: A case-control study

2009 ◽  
Vol 10 (4) ◽  
pp. 467-471 ◽  
Author(s):  
Ana Carolina Cancelier ◽  
Fabricia Petronilho ◽  
Adalisa Reinke ◽  
Larissa Constantino ◽  
Roberta Machado ◽  
...  
Keyword(s):  
Cord Blood ◽  
Neonatal Sepsis ◽  
Early Onset ◽  
Case Control Study ◽  
Case Control ◽  
Control Study

scholarly journals The association of male infertility with telomere length: A case control study

2021 ◽  
Vol 8 (4) ◽  
pp. 325-332
Author(s):  
Kate Deepali Rajesh ◽  
Puranam Vatsalaswamy ◽  
Manvikar Purshotam Rao
Keyword(s):  
Male Infertility ◽  
Telomere Length ◽  
Real Time ◽  
Real Time Pcr ◽  
Case Control Study ◽  
Case Control ◽  
Control Group ◽  
Significant Difference ◽  
Control Study ◽  
Sperm Telomere Length

To study the relevance of sperm telomere length and infertility in men. : Our case-control study included twenty-five males in couple with sub-fertility/infertility (test group) and twenty five healthy males (control group) with proven paternity in the age group 25 to 35 years. The Absolute Sperm Telomere length (aSTL) was measured by real-time PCR. We investigated whether any significant difference in the aSTL value existed between the groups and analysed the relationship between aSTL and other sperm parameters.The mean (SE) aSTL recorded in the infertile cases was significantly shorter than for the control group being 140.60 (6.66) Kb/genome and 239.63 (12.32) Kb/genome respectively (p &#60;0.001) A weak correlation was eminent between aSTL kb/genome and the total sperm count mil/ml (rho= 0.04, p - 0.86), progressive sperm motility (rho= - 0.02, p=0.934) and sperm viability (rho= - 0.07 p=0.741) in the infertile group. The measurement of aSTL by real-time PCR is a simple and rapid method that offers further paramount information with respective to the quality of sperm. It is befitted for epidemiological studies, hence opening new perspectives in the evaluation of male infertility. Limitations - Our study was confined to men aged between 25 and 35 years. Further comparative studies are needed to explore the significance of STL and infertility in older males. Additional studies will help illumine the significance of aSTL as a prognostic biomarker in assisted reproduction.

scholarly journals Estimation of Salivary 8-Hydroxydeoxyguanosine (8-OHdG) as a Potential Biomarker in Assessing Progression towards Malignancy: A Case-Control Study

2020 ◽  
Vol 21 (8) ◽  
pp. 2325-2329
Author(s):  
Arulmozhi Nandakumar ◽  
Priyadharsini Nataraj ◽  
Amritha James ◽  
Rajkumar Krishnan ◽  
Mahesh K M
Keyword(s):  
Case Control Study ◽  
Case Control ◽  
Potential Biomarker ◽  
Control Study

scholarly journals A Case-control Study on the Association of Mitochondrial Transcription Factor a Gene +35G/C Polymorphism and Mitochondrial DNA Copy Number with the Risk of Endometriosis in Indian Women

2021 ◽  
pp. 60-67
Author(s):  
Himabindu Beeram ◽  
Tumu Venkat Reddy ◽  
Suresh Govatati ◽  
Swapna Siddamalla ◽  
Mamata Deenadayal ◽  
...  
Keyword(s):  
Copy Number ◽  
Case Control Study ◽  
Case Control ◽  
Mtdna Copy Number ◽  
Chain Reaction ◽  
Indian Women ◽  
Mitochondrial Transcription Factor ◽  
Mitochondrial Transcription Factor A ◽  
Polymerase Chain ◽  
Control Study

Aim: The Mitochondrial transcription factor A (TFAM) and mitochondrial (mt) DNA copy number variations are known to contribute in disease development. Genetic factors play an important role in the development of endometriosis. Therefore, this case–control study aimed to analyze the association of TFAM+35G/C polymorphism and mitochondrial copy number with the risk of endometriosis in Indian women. Study Design: This study was carried out on 418 subjects including 200 endometriosis cases and 218 controls. Methodology: Genotyping of TFAM +35G/C polymorphism (rs1937) was carried out by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). Quantification of mtDNA copy number was carried out using a real time quantitative polymerase chain reaction (qRT-PCR). Place and Duration of Study: Department of Biochemistry, Osmania University, 2014 to 2020. Results: TFAM genotype as well as allele distributions were all in Hardy-Weinberg equilibrium. The results indicated a significant reduction of GG genotype frequency (P=0.009), high ‘C’ allele frequency (P=0.017) and significantly decreased mtDNA copy number in endometriosis cases compared to controls (P= 0.0001). Conclusion: Present study revealed a statistically significant association of decreased GG genotype of TFAM +35G/C polymorphism and mtDNA copy number with the risk of developing endometriosis in Indian women.

Copy number variation in the carboxylesterase 1 gene and the risk of non-alcoholic fatty liver in a Chinese Han population-a case control study

2020 ◽  
Author(s):  
Bing bing Chen ◽  
Xian-E Peng ◽  
Jianhui Yan ◽  
Hewei Peng ◽  
Xiaoling Cai ◽  
...  
Keyword(s):  
Fatty Liver ◽  
Copy Number ◽  
Case Control Study ◽  
Case Control ◽  
Chinese Han Population ◽  
Chinese Han ◽  
Alcoholic Fatty Liver ◽  
Han Population ◽  
Carboxylesterase 1 ◽  
Control Study

Abstract Background: A recent genome-wide copy number variations (CNVs) scan identified a 16q12.2 deletion that included the carboxylesterase 1 (CES1) gene, which is important in the metabolism of fatty acids and cholesterol. We aimed to investigate whether CES1 CNVs was associated with susceptibility to non-alcoholic fatty liver disease (NAFLD) in a Chinese Han population. Methods: A case-control study was conducted among 303 patients diagnosed with NAFLD and 303 age (± 5) and sex-matched controls from the Affiliated Nanping First Hospital of Fujian Medical University in China. The copy numbers of CES1 were measured using TaqMan quantitative real-time polymerase chain reaction (qPCR) and serum CES1 was measured using enzyme-linked immunosorbent assays. The Chi-squared test and a logistic regression model were used to evaluate the association between CES1 CNVs and NAFLD susceptibility. Results: The distribution of CES1 CNVs showed a higher frequency of CNVs loss (< 2) among patients; however, the difference was not significant (P = 0.05). After controlling for other known or suspected risk factors for NAFLD, CES1 CNVs loss was significantly associated with greater risk of NAFLD (adjusted OR = 2.75, 95% CI: 1.30–5.85, P = 0.01); while CES1 CNVs gain (>2) was not. There was a suggestion of an association between increased CES1 serum protein levels and CNVs losses among cases, although this was not statistically significant (P=0.07). Conclusions: Copy number losses (< 2) of CES1 contribute to susceptibility to NAFLD in the Chinese Han population.

AB015. The relationship between copy number variations and high myopia in Chinese: a case-control study

2017 ◽  
Vol 2 ◽  
pp. AB015-AB015 ◽  
Author(s):  
Shea Ping Yip ◽  
Kim Hung Leung ◽  
Patrick Y. P. Kao ◽  
Maurice K. H. Yap
Keyword(s):  
Copy Number ◽  
High Myopia ◽  
Case Control Study ◽  
Case Control ◽  
Copy Number Variations ◽  
The Relationship ◽  
Control Study

scholarly journals Associations of Genetic Variation in Glyceraldehyde 3-Phosphate Dehydrogenase Gene with Noise-Induced Hearing Loss in a Chinese Population: A Case-Control Study

2020 ◽  
Vol 17 (8) ◽  
pp. 2899 ◽  
Author(s):  
Liu Wan ◽  
Boshen Wang ◽  
Juan Zhang ◽  
Baoli Zhu ◽  
Yuepu Pu
Keyword(s):  
Hearing Loss ◽  
Genetic Variation ◽  
Chinese Population ◽  
Case Control Study ◽  
Quantitative Polymerase Chain Reaction ◽  
Case Control ◽  
Control Group ◽  
Case Group ◽  
Noise Induced Hearing Loss ◽  
Control Study

Objective: The purpose of this paper was to clarify the association between genetic variation in the glyceraldehyde 3-phosphate dehydrogenase (GAPDH) gene and the risk of noise-induced hearing loss (NIHL). Methods: A case-control study (633 cases and 625 controls) was conducted in this study. Logistic regression was used to analyze the relationships between environmental and individual factors and NIHL. Gene expression levels were compared among each GAPDH rs6489721 genotype and between the case and control groups based on real-time fluorescence quantitative Polymerase Chain Reaction (PCR). Results: The T allele of GADPH rs6489721 was significantly associated with NIHL (odds ratio (OR) = 1.262, 95% confidence interval (CI) (1.066, 1.493), p = 0.006) and showed strong associations in the codominant and dominant models (TT vs. CC: OR = 1.586, 95% CI (1.131, 2.225), p = 0.008; TT vs. TC/CC: OR = 1.391, 95% CI (1.073, 1.804), p = 0.013). The expression level of the TT genotype was significantly higher than that of the CC genotype (p = 0.012), and the expression of the case group was also higher than that of the control group (p = 0.013). Conclusions: The homozygous risk allele (TT) of rs6489721 was associated with an enhanced GAPDH expression, resulting in the development of NIHL in a Chinese population.

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