The association between TNP2 gene polymorphisms and Iranian infertile men with varicocele: A case-control study

Background: Numerous researches have provided great evidence that revealed the relationship between varicocele and sperm DNA damage. Objective: Because of the crucial role of nuclear transition proteins (TPs) in sperm DNA condensation and integrity, this case-control study was designed to study TNP2 gene nucleotide variations in Iranian patients with varicocele. Materials and Methods: PCR-SSCP and DNA sequencing were used to search for mutations in exons 1 & 2 of the TNP2 gene in 156 infertile patients with varicocele and 150 fertile men. Results: The results of sequencing showed three variants at positions c.301C > T (p.R101C), c.391C > T (p.R131 W), and g.IVS1-26G >C (rs8043625) of TNP2 gene. It was found that varicocele risk in men who have the CC genotype of g.IVS1-26G >C SNP is higher than those who don’t have these genotypes (according to Co-dominant model, Dominant model, Recessive model, and Over-dominant model). The haplotype-based analysis showed that (C/C/T) and (C/T/T) haplotypes were a risk factor of in patients with varicocele compared to controls (OR = 3.278, p = 0.000 and OR= 9.304, p = 0.038, respectively). Conclusion: Because of the significant difference in the genotype and allele frequencies of g.IVS1-26G >C SNP in the intronic region of TNP2 in patients with varicocele compared with controls and also because of the high conservation of this SNP position during evolution, this SNP may be involved in some important processes associated with the expression of this gene like mRNA splicing, but the exact mechanism is not clear.

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Sperm DNA damage and cytokines in varicocele: A case‐control study

Andrologia ◽

10.1111/and.14023 ◽

2021 ◽

Author(s):

Renata Finelli ◽

Francesco Pallotti ◽

Francesco Cargnelutti ◽

Fabiana Faja ◽

Tania Carlini ◽

...

Keyword(s):

Dna Damage ◽

Case Control Study ◽

Case Control ◽

Sperm Dna Damage ◽

Sperm Dna ◽

Control Study

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The Role of Toxoplasma gondii Infection Among Multiple Sclerosis Patient Compared to Ordinary People in South of Iran: A Case-Control Study

Modern Care Journal ◽

10.5812/modernc.105090 ◽

2020 ◽

Vol 17 (3) ◽

Author(s):

Mahsa Rahnama ◽

Qasem Asgari ◽

Peiman Petramfar ◽

Davod Tasa ◽

Vahid Hemati ◽

...

Keyword(s):

Multiple Sclerosis ◽

Toxoplasma Gondii ◽

Case Control Study ◽

Case Control ◽

Control Group ◽

Ordinary People ◽

Serum Samples ◽

Significant Difference ◽

Control Study

Background: Toxoplasmosis is a common parasitic disease, which leads to serious disease symptoms in immunocompromised hosts and infants. Recent epidemiologic surveys showed that microbial agents may be associated with some cases of multiple sclerosis (MS). Objectives: This case-control study aimed to examine the role of Toxoplasma gondii in MS by evaluating sero-frequency of anti-T. gondii IgG (ATXAb) antibody between patients with MS and ordinary people in Shiraz Province, south of Iran during 2016 - 2018. Methods: Serum samples obtained from MS patients (n = 130), and a group of age and gender-matched controls (n = 130) with the same socioeconomic status with the patients’ group were collected to evaluate the prevalence of T. gondii IgG antibodies (ATXAb). Moreover, the presence of the ATXAb antibody of the patients and controls was determined by the ELISA test. SPSS 20 software was used to perform the statistical analysis (SPSS, inc., Chicago, USA). Results: Out of 130 (35.4%) cases with MS and 130 (13.8%) controls, 46 and 18 subjects were seropositive for ATXAb, respectively. Based on the chi-square test, a significant difference was observed in terms of the positivity rates of ATXAb between the MS patient group and the control group (P = 0.001). The mean ± standard deviation ATXAb levels in controls and MS patients were found to be 61 ± 34 and 114 ± 47 IU/mL, respectively. Also, there were statistically significant differences between the levels of these two groups (P = 0.001). Conclusions: Given the relationship between toxoplasmosis and MS, it is possible that the prevalence of MS decreases by increasing hygiene and preventing toxoplasmosis.

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Oxidative Stress and Polymorphism in MTHFR SNPs (677 and 1298) in Paternal Sperm DNA is Associated with an Increased Risk of Retinoblastoma in Their Children: A Case–Control Study

Journal of Pediatric Genetics ◽

10.1055/s-0038-1667037 ◽

2018 ◽

Vol 07 (03) ◽

pp. 103-113 ◽

Cited By ~ 2

Author(s):

Shilpa Bisht ◽

Bhavna Chawla ◽

Rima Dada

Keyword(s):

Oxidative Stress ◽

Case Control Study ◽

Case Control ◽

Mthfr Gene ◽

Nucleotide Polymorphisms ◽

Mthfr Polymorphisms ◽

Sperm Dna ◽

Increased Risk ◽

Control Study

AbstractSperm DNA is considered as the most vulnerable to oxidative stress-induced damage that also impairs global sperm DNA methylation leading to sperm-associated pathologies. C677T and A1298C polymorphisms of the methylene tetrahydrofolate reductase (MTHFR) gene affect MTHFR enzyme activity. This study was planned as a case–control study to determine the MTHFR gene polymorphisms in the fathers of children affected with sporadic nonfamilial heritable retinoblastoma in an Indian population. MTHFR polymorphisms for single nucleotide polymorphisms 677 and 1298 were also determined in sporadic nonfamilial heritable retinoblastoma patients to estimate the risk for retinoblastoma development and to evaluate the role of MTHFR in retinoblastoma pathogenesis.

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The Predictive Value of Cell Blood Count Parameters to Diagnose Pulmonary Embolism in Patients with SARS-CoV-2 Infection: A Case Control Study

Antibiotics ◽

10.3390/antibiotics11010060 ◽

2022 ◽

Vol 11 (1) ◽

pp. 60

Author(s):

Alessio Strazzulla ◽

Sarra Abroug Ben Halima ◽

Ibrahim Chouchane ◽

Marwa Rezek ◽

Marcella Pinto Stiebler ◽

...

Keyword(s):

Pulmonary Embolism ◽

Blood Count ◽

Case Control Study ◽

Univariate Analysis ◽

Case Control ◽

Lymphocyte Ratio ◽

Pulmonary Scintigraphy ◽

Significant Difference ◽

Control Study

Introduction: Acute pulmonary embolism (aPE) is frequently associated with coronavirus infectious disease-2019 (COVID-19) with an incidence of more than 16%. Among the new promising biomarkers of aPE, neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte ratio (PLR) showed correlations with aPE prognosis. The aim of this study was to conduct an exploratory analysis to check the possible role of cell blood count (CBC) parameters as diagnostic and prognostic biomarkers of aPE in COVID-19 patients. Materials and Methods: A case control study was conducted. Two populations were compared: (i) patients hospitalised from 31 January 2020 to 30 June 2021 with severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2) infection and aPE confirmed at angio computed tomography (aCT) or pulmonary scintigraphy (COVID-19 aPE group); (ii) patients hospitalised from 31 January 2017 to 30 June 2021 without SARS-CoV-2 infection whose suspicion of aPE was excluded by aCT or pulmonary scintigraphy (no-aPE group). Results: Overall, 184 patients were included in the study, 83 in COVID-19 aPE group and 101 in no-aPE group. At the univariate analysis, COVID-19 patients with aPE had higher NLR, PLR, neutrophil and lymphocyte counts than patients without aPE (p < 0.05). No significant difference was found in mean platelet volume and platelet counts. No difference in mortality rate was detected. At the multivariate analysis, neutrophil and lymphocyte counts were both associated with diagnostic of aPE while no CBC parameters were associated with mortality at day#7. Conclusions: Neutrophiland lymphocyte counts could be predictors of the early detection of aPE in COVID-19 patients. The value of CBC indices as biomarkers of aPE in daily clinical practice needs to be investigated in further studies.

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Lysyl oxidase family genes polymorphisms and risk of aneurysmal subarachnoid hemorrhage: A case control study

10.21203/rs.3.rs-907457/v1 ◽

2021 ◽

Author(s):

Rui Dong ◽

Chun Luo ◽

Bingyang Li ◽

Chongyu Hu ◽

Junyu Liu ◽

...

Keyword(s):

Subarachnoid Hemorrhage ◽

Protective Effect ◽

Case Control Study ◽

Lysyl Oxidase ◽

Aneurysmal Subarachnoid Hemorrhage ◽

Additive Model ◽

Case Control ◽

Recessive Model ◽

Dominant Model ◽

Control Study

Abstract Introduction: aneurysmal subarachnoid hemorrhage (aSAH) is a devastating disease caused by intracranial aneurysm (IA) rupture. Lysyl oxidase (LOX) family genes (LOX-like [LOXL] 1–4) have roles in collagen cross-linking in the extracellular matrix and may be associated with IA rupture. We aimed to explore the association between LOX polymorphisms and the risk of aSAH. Methods This case-control study included two cohorts: 133 and 115 single ruptured and unruptured IA patients, and 65 and 71 multiple ruptured and unruptured IAs patients, respectively. Genotyping of 27 single nucleotide polymorphisms (SNPs) in LOX was performed. Logistic regression analysis was performed to calculate the odds ratios (OR) and 95% confidence intervals (CI) of the SNPs of LOX and risk of aSAH. Results LOX rs180044 and LOXL4 rs3793692 were positively associated with the risk of single IA rupture in the recessive model (OR = 5.66, 2.06; 95% CI = 1.22–26.24, 1.11–3.82, respectively) and LOX rs10519694 demonstrated a protective effect on single IA rupture (dominant model: OR = 0.42, 95% CI = 0.21–0.83; recessive model: OR = 0.16, 95% CI = 0.04–0.65; additive model: OR = 0.46, 95% CI = 0.28–0.78). LOXL1 rs2165241, LOXL2 rs1063582, and LOXL3 rs17010021 demonstrated risk effects on multiple IAs rupture. LOXL3 rs17010022 showed a protective effect on multiple IAs rupture (dominant model: OR = 0.41, 95% CI = 0.21–0.82; additive model: OR = 0.51, 95% CI = 0.30–0.85). Discussion LOX and LOXL4 may be susceptible to single IA rupture, whereas LOXL1-3 may have a role in susceptibility to multiple IAs rupture in the Chinese population, suggesting LOX family genes may associated with aSAH.

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Association between variation in the genes DDAH1 and DDAH2 and hypertension among Uygur, Kazakh and Han ethnic groups in China

Sao Paulo Medical Journal ◽

10.1590/1516-3180.2015.01150108 ◽

2016 ◽

Vol 134 (3) ◽

pp. 205-210 ◽

Cited By ~ 1

Author(s):

Zhong Wang ◽

Shaoze Chen ◽

Lina Zhang ◽

Guilin Lu ◽

Chengming Zhou ◽

...

Keyword(s):

Risk Factor ◽

Ethnic Groups ◽

Protective Factor ◽

Case Control Study ◽

Genetic Diagnosis ◽

Case Control ◽

Recessive Model ◽

Dominant Model ◽

Medical College ◽

Control Study

CONTEXT AND OBJECTIVE: Dimethylarginine dimethylaminohydrolase enzymes (DDAH), which are encoded by the genes DDAH1 and DDAH2, play a fundamental role in maintaining endothelial function. We conducted a case-control study on a Chinese population that included three ethnic groups (Han, Kazakh and Uygur), to systemically investigate associations between variations in the genes DDAH1 and DDAH2 and hypertension. DESIGN AND SETTING: Experimental study at the Department of Internal Medicine and Genetic Diagnosis, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology. METHODS: This case-control study included 1,224 patients with hypertension and 967 healthy unrelated individuals as controls. DDAH1 -396 4N (GCGT) del>ins, rs3087894, rs805304 and rs9267551 were genotyped using the TaqMan 5' nuclease assay. RESULTS: The G/C genotype of rs3087894 in DDAH1 was a risk factor for hypertension in the Kazakh group in the co-dominant model (G/C versus G/G) (OR 1.39; 95% CI: 1.02-1.88; P < 0.05), with the same result in the dominant model (G/C + C/C versus G/G) (OR 1.38; 95% CI: 1.03-1.84; P < 0.05). In contrast, the C/C genotype of rs3087894 seemed to be a protective factor against hypertension in the Uygur group in the recessive model (C/C versus G/G + G/C) (OR 0.62; 95% CI: 0.39- 0.97; P < 0.05). Similar findings for rs3087894 were also observed after adjusting the variable for the age covariate. CONCLUSION: Our results indicated that the C-allele of rs3087894 in DDAH1 was a risk factor for hypertension in the Kazakh group but a protective factor in the Uygur group.

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Dermatoglyphics in infants with isolated, non-familial cleft lip palate- a case control study from Southern India

International Journal of Contemporary Pediatrics ◽

10.18203/2349-3291.ijcp20172671 ◽

2017 ◽

Vol 4 (4) ◽

pp. 1389

Author(s):

Lia Sarah Anish ◽

Sowmya S. G. ◽

Rathika Shenoy ◽

Vikram Shetty

Keyword(s):

Cleft Lip ◽

Genetic Factors ◽

Case Control Study ◽

Case Control ◽

P Value ◽

Study Group ◽

Right Hand ◽

Significant Difference ◽

Control Study

Background: The role of genetic factors may be established by study of dermatoglyphics, therefore, any genetic abnormality during the formation of cleft lip and/or palate (CL/P) in the early trimester maybe reflected by altered dermatoglyphics. Aim: This study aims to assess altered dermatoglyphics in children with isolated, non-familial CL/P to understand the role of genetic factors in clefting.Methods: Case control study in a cranio-facial centre comprising of 40 infants (6-9 months) with CL/P and age and gender matched controls. Finger printing was done using black duplicating ink. A p-value of 0.05 was considered significant.Results: Majority (57.5%) had left sided clefting. Ulnar loops were the predominant digital pattern in the study group but there was no statistical difference with the controls, when all the finger patterns were considered together. There was significant difference in digital patterns in between the left thumb (p=0.033), ring (p=0.048) and little fingers (p=0.029) in the two groups. Comparison between the right and left hands within the study group showed significant difference in digital patterns in the thumb (p=0.047) and little finger (p<0.001). The study group also had a wider atd angle with significance (right hand p=0.038, left p=0.003) and a lower a-b ridge count with significance (right hand p= 0.045, left p=0.012).Conclusions: There was a definite dermatoglyphic difference specifically in the left hand, which was also the major side of clefting, within subjects as well as between subjects and controls.

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Risk factors associated with subacromial pain in young athletes: A case control study

Journal of Back and Musculoskeletal Rehabilitation ◽

10.3233/bmr-191683 ◽

2021 ◽

pp. 1-9

Author(s):

Zoran Z. Sarcevic ◽

Andreja P. Tepavcevic

Keyword(s):

Logistic Regression ◽

Case Control Study ◽

Case Control ◽

Sternoclavicular Joint ◽

Pectoralis Major ◽

Young Athletes ◽

Serratus Anterior ◽

Significant Difference ◽

Lower Trapezius ◽

Control Study

BACKGROUND: Subacromial pain (SAP) is a common complaint of young athletes, independently of the sport engaged. The prevalence of SAP in some sports is up to 50%. OBJECTIVE: The study was aimed to investigate some new factors possibly associated to subacromial pain in young athletes. The factors considered were the grade of tightness of the clavicular portion of the pectoralis major, dysfunction of the sternoclavicular joint, and serratus anterior and lower trapezius strength. METHODS: This case-control study included 82 young athletes 9–15 years, 41 with the symptoms of SAP and 41 controls. All participants self-reported whether they had subacromial pain. In addition, Hawkins–Kennedy Test was performed to all the participants to evaluate the subacromial pressure. Main outcome measures were the grade of tightness of the clavicular portion of the pectoralis major, dysfunction of the sternoclavicular joint, and serratus anterior and lower trapezius strength. The grade of tightness of the clavicular portion of the pectoralis major and the dysfunction of the sternoclavicular joint were measured with an inclinometer. Serratus anterior and lower trapezius strength were measured by a handheld dynamometer with external belt-fixation. The data were analyzed using t-test for independent samples, Mann-Whitney U test, contingency coefficients and a stepwise binary logistic regression. RESULTS: Significant statistical difference was observed in the grade of tightness of the clavicular portion of the pectoralis major and in the variable representing the physiological functioning of the sternoclavicular joint, between the cases and the controls. There was no significant difference in serratus anterior and lower trapezius strength between the cases and the controls. Logistic regression analysis showed that the variable representing the physiological functioning of the sternoclavicular joint and the grade of shortening of the clavicular portion of the pectoralis major were good predictors for presence of SAP. CONCLUSIONS: A strong association was determined between subacromial pain in young athletes, clavicular portion of pectoralis major tightness and the dysfunction of the sternoclavicular joint.

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