SNP Identification in Sperm Associated Antigen 11B Gene and Its Association with Sperm Quality Traits in Murrah Bulls

2021 ◽  
Author(s):  
B. Deshmukh ◽  
A. Verma ◽  
I.D. Gupta ◽  
N. Kashyap ◽  
J. Saikia
Keyword(s):  
Sperm Quality ◽  
Polymorphic Information Content ◽  
Large Population ◽  
Immune Recognition ◽  
Quality Traits ◽  
Seminal Parameters ◽  
Genotype Frequencies ◽  
The Impact ◽  
Novel Snp ◽  
Acrosomal Integrity

Background: The beta-defensin family antigens present on sperm surface suggestively play pivotal role in sperm fertility by aiding in various steps of sperm maturation, motility, capacitation, immune recognition and sperm-oocyte interaction in female tract. It is imperative to explore genetic polymorphisms to build a better understanding of individual variation in male fertility. The experiment was designed to identify DNA polymorphism in Sperm Associated Antigen 11B (SPAG11B) gene and to analyze association between genetic variants with sperm quality traits in buffalo bulls (Murrah) in ICAR-National Dairy Research Institute, Karnal. Methods: Genomic DNA was extracted from hundred and thirty Murrah bulls. A 395 base pair region covering partial Intron 2, Exon 3 and Partial Intron 3 of bovine SPAG11 gene was amplified and genotyped using PCR-RFLP method. The PCR amplified product was purified, sequenced and further ClustalW analysis was done to align edited sequence with reported Bos taurus sequence (AC_000158.1). Gene and genotype frequencies, effective number of alleles, level of heterozygosity and polymorphic information content of various genotypes were estimated by standard procedure. Seminal parameters (Post thaw sperm motility, sperm viability, acrosomal integrity, HOST and abnormality) were estimated and statistical analysis was carried out. Result: A novel SNP (G greater than A substitution) at 2266 base of the SPAG11B gene was identified by sequencing. The fragment of SPAG11 gene containing 395 base pairs was amplified using PCR and digested with restriction enzyme i.e. MunI which showed three distinct genotypes viz., AA (266 bp and 107 bp fragment), AG (307 bp, 266 bp and 107 bp) and GG (373 bp fragment). Least squares means of seminal parameters for the SNP was estimated and compared after correction for non-genetic factors. Between genotypes, significant differences were found only for acrosomal integrity and was highest in AG (74.22±0.72) followed by AA (72.6±0.89) and GG (71.12±0.97), respectively. The identified novel SNP of SPAG11 gene showed significant association with acrosome integrity with genotype AG being superior to other genotypes. However, an association cannot be established with other seminal parameters with this SNP, further studies are required in order to validate the impact of g.2266G greater than A on sperm quality traits in a large population.

Effect of ESR, FSHB and PRLR Genes on Sperm Traits of Landrace and Yorkshire Boars in the Tropical Environmental Conditions of Vietnam

2020 ◽  
Author(s):  
Do Duc Luc ◽  
Ha Xuan Bo ◽  
Nguyen Hoang Thinh ◽  
Nguyen Chi Thanh ◽  
Tran Xuan Manh ◽  
...  
Keyword(s):  
Mixed Model ◽  
Sperm Quality ◽  
Sperm Concentration ◽  
Quality Trait ◽  
Quality Traits ◽  
Tissue Samples ◽  
Genotype Frequencies ◽  
Tropical Conditions ◽  
Sperm Traits ◽  
Esr Gene

Background: Fertility traits in pigs made a restricted progress through traditional selection. Applying marker assisted selection could improve these traits. The aim of the study was to investigate the effects of candidate genes Estrogen Receptor (ESR), Follicle Stimulating Hormone Beta (FSHB) and Prolactin Receptor (PRLR) on sperm quality traits of Landrace and Yorkshire boars under tropical conditions in Northern Vietnam.Methods: A total of 6306 ejaculates from 140 boars (92 Landrace and 48 Yorkshire) were collected to estimate sperm ejaculate volume (VOL), spermatozoon motility (MO), sperm concentration (CO) and total number of spermatozoon in ejaculate (NT). Ear tissue samples were collected for genotype identification of SNP present in ESR, FSHB and PRLR genes using PCR-RFLP technique. A mixed model was used to test the effect of different genetic and non-genetic factors on the sperm quality traits.Result: The genotype frequencies of ESR, FSHB and PRLR were in Hardy-Weinberg equilibrium for each breed. Age of boars and month of the year had significant effect on all the sperm quality traits (P less than 0.01) while effect of breed was found to be non-significant on all the sperm quality trait. FSHB gene significantly (P less than 0.05) affected VOL, MO and CO. Boars with BB genotype showed positive effect on VOL but negative effect on MO and CO in comparison with AA genotype boars. ESR gene showed only effect on VOL while PRLR affected only MO. Boars with AA and AB genotypes of ESR gene had a significantly higher VOL than those with BB genotype (P less than 0.05). For PRLR gen, AB genotype was associated with higher MO than AA genotype (P less than 0.05). These results suggest a possibility of using the existing polymorphisms in ESR, FSHB and PRLR genes to improve some sperm traits of Landrace and Yorkshire boars.

scholarly journals Inheritable testicular metabolic memory of high-fat diet causes transgenerational sperm defects in mice

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Luís Crisóstomo ◽  
Ivana Jarak ◽  
Luís P. Rato ◽  
João F. Raposo ◽  
Rachel L. Batterham ◽  
...  
Keyword(s):  
Sperm Quality ◽  
Feeding Habits ◽  
Reproductive Function ◽  
Principal Component ◽  
Testicular Tissue ◽  
Sperm Parameters ◽  
Metabolic Memory ◽  
High Fat ◽  
And Function ◽  
The Impact

AbstractThe consumption of energy-dense diets has contributed to an increase in the prevalence of obesity and its comorbidities worldwide. The adoption of unhealthy feeding habits often occurs at early age, prompting the early onset of metabolic disease with unknown consequences for reproductive function later in life. Recently, evidence has emerged regarding the intergenerational and transgenerational effects of high-fat diets (HFD) on sperm parameters and testicular metabolism. Hereby, we study the impact of high-fat feeding male mice (F0) on the testicular metabolome and function of their sons (F1) and grandsons (F2). Testicular content of metabolites related to insulin resistance, cell membrane remodeling, nutritional support and antioxidative stress (leucine, acetate, glycine, glutamine, inosine) were altered in sons and grandsons of mice fed with HFD, comparing to descendants of chow-fed mice. Sperm counts were lower in the grandsons of mice fed with HFD, even if transient. Sperm quality was correlated to testicular metabolite content in all generations. Principal Component Analysis of sperm parameters and testicular metabolites revealed an HFD-related phenotype, especially in the diet-challenged generation and their grandsons. Ancestral HFD, even if transient, causes transgenerational “inherited metabolic memory” in the testicular tissue, characterized by changes in testicular metabolome and function.

scholarly journals Does parental permissiveness toward cigarette smoking and alcohol use influence illicit drug use among adolescents? A longitudinal study in seven European countries

2021 ◽  
Author(s):  
Emina Mehanović ◽  
Federica Vigna-Taglianti ◽  
Fabrizio Faggiano ◽  
Maria Rosaria Galanti ◽  
Barbara Zunino ◽  
...  
Keyword(s):  
Alcohol Use ◽  
Drug Use ◽  
Cigarette Smoking ◽  
Longitudinal Data ◽  
Illicit Drug ◽  
Large Population ◽  
Illicit Drug Use ◽  
European Countries ◽  
The Impact

Abstract Purpose Adolescents’ perceptions of parental norms may influence their substance use. The relationship between parental norms toward cigarette and alcohol use, and the use of illicit substances among their adolescent children is not sufficiently investigated. The purpose of this study was to analyze this relationship, including gender differences, using longitudinal data from a large population-based study. Methods The present study analyzed longitudinal data from 3171 12- to 14-year-old students in 7 European countries allocated to the control arm of the European Drug Addiction Prevention trial. The impact of parental permissiveness toward cigarettes and alcohol use reported by the students at baseline on illicit drug use at 6-month follow-up was analyzed through multilevel logistic regression models, stratified by gender. Whether adolescents’ own use of cigarette and alcohol mediated the association between parental norms and illicit drug use was tested through mediation models. Results Parental permissive norms toward cigarette smoking and alcohol use at baseline predicted adolescents’ illicit drug use at follow-up. The association was stronger among boys than among girls and was mediated by adolescents’ own cigarette and alcohol use. Conclusion Perceived parental permissiveness toward the use of legal drugs predicted adolescents’ use of illicit drugs, especially among boys. Parents should be made aware of the importance of norm setting, and supported in conveying clear messages of disapproval of all substances.

scholarly journals AB0008 THE IMPACT OF STAT4 RS7574865, IL6 RS1800795, IL6R RS2228145 AND RS4845618 ON RHEUMATOID ARTHRITIS SUSCEPTIBILITY IN BELARUSIAN POPULATION

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1307.1-1308
Author(s):  
E. Siniauskaya ◽  
T. Kuzhir ◽  
V. Yagur ◽  
R. Goncharova
Keyword(s):  
Rheumatoid Arthritis ◽  
Blood Donors ◽  
Genetic Model ◽  
Online Tool ◽  
Genotype Frequencies ◽  
Systemic Disorder ◽  
Autoimmune Pathogenesis ◽  
The Impact ◽  
Arthritis Susceptibility

Background:Rheumatoid arthritis (RA) is a chronic systemic disorder of the connective tissue of still unknown aetiology and complex autoimmune pathogenesis that primarily affects small joints. HLA alleles provide for 11-37% of the RA heritability, suggesting the substantial role of the non-HLA loci in genetic predisposition to RA. Among non-HLA loci,IL6, IL6RandSTAT4genes attract attention, however, the data concerning their influence on RA risk are somewhat contradictory.Objectives:The aim of the study was to analyze the involvement of four SNPs (STAT4rs7574865,IL6rs1800795,IL6Rrs2228145 and rs4845618) in RA susceptibility.Methods:187 patients diagnosed with RA (mean age 58.2 ± 11.9), and 380 healthy blood donors (mean age 37.18 ± 10.69 years) were included into the study. DNA extraction from peripheral blood samples was performed using the phenol-chloroform method. SNPs were genotyped using the real-time PCR with fluorescent probes. The allele and genotype frequencies were compared using the χ2 test. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated using the VassarStats online tool.Results:Utilizing recessive genetic model we found an association between TT genotype ofSTAT4rs7574865 (OR = 2.362; 95%CI [1.0378 – 5.376], p = 0.038) and RA. ForIL6rs1800795, it was found that CC genotype had significantly higher frequency among patients with rheumatoid arthritis as compared to that in controls (OR = 1.52; 95%CI [1.02 – 2.27], p = 0.0456). No associations ofIL6Rrs2228145 and rs4845618 SNPs with risk of RA were found in the total group of patients vs. controls. It was also shown thatIL6rs1800795 CC genotype frequency was significantly higher among the patients with RF-negative status (p = 0.0019).Conclusion:Thus, we provide evidence for association of theSTAT4rs7574865 andIL6rs1800795 variants with risk of RA in the Belarusian population, some features of interplay being revealed between gene polymorphisms analyzed and RA antibody status. Abovementioned SNPs may contribute to RA genetic susceptibility in the Belarusian population.Disclosure of Interests:None declared

scholarly journals Association of Genetic Polymorphisms and Serum Levels of IL-6 and IL-8 with the Prognosis in Children with Neuroblastoma

Cancers ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 529
Author(s):  
Silvia Selene Moreno-Guerrero ◽  
Arturo Ramírez-Pacheco ◽  
Luz María Rocha-Ramírez ◽  
Gabriela Hernández-Pliego ◽  
Pilar Eguía-Aguilar ◽  
...  
Keyword(s):  
Overall Survival ◽  
Genetic Polymorphisms ◽  
Poor Prognosis ◽  
Serum Levels ◽  
Control Group ◽  
Mexican Children ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
The Impact ◽  
Circulating Levels

There is evidence that high circulating levels of IL-6 and IL-8 are markers of a poor prognosis in various types of cancer, including NB. The participation of these cytokines in the tumor microenvironment has been described to promote progression and metastasis. Our objective was to evaluate the prognostic role of genetic polymorphisms and serum levels of IL-6 and IL-8 in a cohort of Mexican pediatric patients with NB. The detection of the SNPs rs1800795 IL-6 and rs4073 and rs2227306 IL-8 was carried out by PCR-RFLP and the levels of cytokines were determined by the ELISA method. We found elevated circulating levels of IL-8 and IL-6 in NB patients compared to the control group. The genotype frequencies of the rs1800795 IL-6 and rs4073 IL-8 variants were different between the patients with NB and the control group. Likewise, the survival analysis showed that the GG genotypes of rs1800795 IL-6 (p = 0.014) and AA genotypes of rs4073 IL-8 (p = 0.002), as well as high levels of IL-6 (p = 0.009) and IL-8 (p = 0.046), were associated with lower overall survival. We confirmed the impact on an adverse prognosis in a multivariate model. This study suggests that the SNPs rs1800795 IL-6 and rs4073 IL-8 and their serum levels could be promising biomarkers of a poor prognosis, associated with overall survival, metastasis, and a high risk in Mexican children with NB.

scholarly journals A Retrospective Experience of Helicobacter pylori Histology in a Large Sample of Subjects in Northern Italy

Life ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 650
Author(s):  
Davide Giuseppe Ribaldone ◽  
Carlo Zurlo ◽  
Sharmila Fagoonee ◽  
Chiara Rosso ◽  
Angelo Armandi ◽  
...  
Keyword(s):  
Helicobacter Pylori ◽  
Large Population ◽  
Population Data ◽  
Signet Ring Cell ◽  
Current Data ◽  
Low Grade ◽  
Gastric Cardia Adenocarcinoma ◽  
Significant Difference ◽  
H Pylori ◽  
The Impact

Updated data about the prevalence of Helicobacter pylori (H. pylori) and its correlation with histological results are scarce. The aim of our study was to provide current data on the impact of H. pylori in a third-level endoscopy service. We performed a large, retrospective study analyzing the results of all histological samples of gastroscopy from the year 2019. In total, 1512 subjects were included. The prevalence of H. pylori was 16.8%. A significant difference between the prevalence in subjects born in Italy and those from eastern Europe, south America, or Africa was found (p < 0.0001, p = 0.006, and p = 0.0006, respectively). An association was found between H. pylori and active superficial gastritis (p < 0.0001). Current H. pylori and/or a previous finding of H. pylori was related to antral atrophy (p < 0.0001). Fifteen patients had low-grade dysplasia. There were no statistically significant associations with current or past H. pylori infection. One patient presented gastric cardia adenocarcinoma with regular gastric mucosa. One patient, H. pylori positive, was diagnosed with gastric signet ring cell adenocarcinoma in a setting of diffuse atrophy, without metaplasia.. Our study provides updated, solid (biopsy diagnosis and large population) data on the prevalence of H. pylori infection in a representative region of southern Europe.

scholarly journals Primary tumor surgery improves survival in non-metastatic primary urethral carcinoma patients: a large population-based investigation

BMC Cancer ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Jie Wu ◽  
Yu-Chen Wang ◽  
Wen-Jie Luo ◽  
Bo-Dai ◽  
Ding-Wei Ye ◽  
...  
Keyword(s):  
Regression Model ◽  
Competing Risks ◽  
Primary Tumor ◽  
Cox Regression ◽  
Radical Surgery ◽  
Large Population ◽  
Local Therapy ◽  
Primary Site ◽  
Urethral Carcinoma ◽  
The Impact

Abstract Background Primary urethral carcinoma (PUC) is a rare genitourinary malignancy with a relatively poor prognosis. The aim of this study was to examine the impact of surgery on survival of patients diagnosed with PUC. Methods A total of 1544 PUC patients diagnosed between 2004 and 2016 were identified based on the SEER database. The Kaplan-Meier estimate and the Fine and Gray competing risks analysis were performed to assess overall survival (OS) and cancer-specific mortality (CSM). The multivariate Cox regression model and competing risks regression model were used to identify independent risk factors of OS and cancer-specific survival (CSS). Results The 5-yr OS was significantly better in patients who received either local therapy (39.8%) or radical surgery (44.7%) compared to patients receiving no surgery of the primary site (21.5%) (p < 0.001). Both local therapy and radical surgery were each independently associated with decreased CSM, with predicted 5-yr cumulative incidence of 45.4 and 43.3%, respectively, compared to 64.7% for patients receiving no surgery of the primary site (p < 0.001). Multivariate analyses demonstrated that primary site surgery was independently associated with better OS (local therapy, p = 0.037; radical surgery, p < 0.001) and decreased CSM (p = 0.003). Similar results were noted regardless of age, sex, T stage, N stage, and AJCC prognostic groups based on subgroup analysis. However, patients with M1 disease who underwent primary site surgery did not exhibit any survival benefit. Conclusion Surgery for the primary tumor conferred a survival advantage in non-metastatic PUC patients.

scholarly journals Compounded trauma: A qualitative study of the challenges for refugees living with advanced cancer

2021 ◽  
pp. 026921632110002
Author(s):  
Ping Guo ◽  
Sawsan Alajarmeh ◽  
Ghadeer Alarja ◽  
Waleed Alrjoub ◽  
Ayman Al-Essa ◽  
...  
Keyword(s):  
Social Support ◽  
Qualitative Study ◽  
Advanced Cancer ◽  
Psychosocial Support ◽  
Large Population ◽  
Community Support ◽  
Support Network ◽  
Psychosocial Needs ◽  
Physical And Mental Health ◽  
The Impact

Background: Although palliative care is now an essential health service under Universal Health Coverage, ensuring access and appropriate care for refugees is a specific challenge for this large population. Aim: To identify the needs and experiences of adult refugees in Jordan with advanced cancer and informal caregivers. Design: A qualitative study using semi-structured interviews. Setting/participants: Participants were purposively sampled at two Jordanian hospitals to achieve heterogeneity by age, gender, country of origin, and primary diagnosis. Results: Twenty-nine refugees (22 patients, 7 caregivers) participated, and four themes were generated: (1) Psychological distress and sustaining social support. Refugees often experienced unmet psychosocial needs. However, psychosocial support was reported either absent or limited. (2) Knowledge and uncertainty. Lack of information and poor communication between healthcare providers and patients caused significant distress due to uncertainty. (3) Family anxiety and support roles. Being away from the home country cut patients and caregivers off from their wider social support network, which added increased anxiety and responsibilities to caregivers. (4) Compounded trauma and poverty. Many refugees have experienced trauma related to war that may affect their physical and mental health. They faced serious financial crises caused by the rising cost of medicines and treatment. Conclusions: This study reveals the impact of fractured families and networks on social support in advanced cancer, and the compounding trauma of the disease for refugees. Detailed person-centred assessment and emphasis on psychosocial support is essential, and home-based care should not presume community support for patients to remain at home.

scholarly journals Type 2 diabetes and tuberculosis in a dynamic bi-national border population

2006 ◽  
Vol 135 (3) ◽  
pp. 483-491 ◽  
Author(s):  
B. I. RESTREPO ◽  
S. P. FISHER-HOCH ◽  
J. G. CRESPO ◽  
E. WHITNEY ◽  
A. PEREZ ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Large Population ◽  
The United States ◽  
South Texas ◽  
Control Programmes ◽  
Mexico Border ◽  
Northeastern Mexico ◽  
The Impact ◽  
Border Population

The epidemic of type 2 diabetes in the United States prompted us to explore the association between diabetes and tuberculosis (TB) on the South Texas–Mexico border, in a large population of mostly non-hospitalized TB patients. We examined 6 years of retrospective data from all TB patients (n=5049) in South Texas and northeastern Mexico and found diabetes self-reported by 27·8% of Texan and 17·8% of Mexican TB patients, significantly exceeding national self-reported diabetes rates for both countries. Diabetes comorbidity substantially exceeded that of HIV/AIDS. Patients with TB and diabetes were older, more likely to have haemoptysis, pulmonary cavitations, be smear positive at diagnosis, and remain positive at the end of the first (Texas) or second (Mexico) month of treatment. The impact of type 2 diabetes on TB is underappreciated, and in the light of its epidemic status in many countries, it should be actively considered by TB control programmes, particularly in older patients.

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