scholarly journals Is BRD7 associated with spermatogenesis impairment and male infertility in humans? A case-control study in a Han Chinese population

2021 ◽  
Vol 31 (1) ◽  
Author(s):  
Tianrong He ◽  
Mohan Liu ◽  
Dachang Tao ◽  
Xiangyou Leng ◽  
Zhaokun Wang ◽  
...  
Keyword(s):  
Male Infertility ◽  
Case Control Study ◽  
Rare Variants ◽  
Chromatin Modification ◽  
Case Control ◽  
Similar Distribution ◽  
Nucleotide Polymorphisms ◽  
Genotype Frequencies ◽  
Control Study ◽  
Spermatogenic Failure

Abstract Background Bromodomain-containing protein 7 (BRD7), a member of the bromodomain-containing protein family, plays important roles in chromatin modification and transcriptional regulation. A recent model of Brd7-knockout mice presented azoospermia and male infertility, implying the potential role of BRD7 in spermatogenic failure in humans. This case-control study aimed to explore the association of the BRD7 gene with spermatogenic efficiency and the risk of spermatogenic defects in humans. Results A total of six heterozygous variants were detected in the coding and splicing regions of the BRD7 gene in patients with azoospermia. For each of four rare variants predicted to potentially damage BRD7 function, we further identified these four variants in oligozoospermia and normozoospermia as well. However, no difference in the allele and genotype frequencies of rare variants were observed between cases with spermatogenic failure and controls with normozoospermia; the sperm products of variant carriers were similar to those of noncarriers. Moreover, similar distribution of the alleles, genotypes and haplotypes of seven tag single nucleotide polymorphisms (tagSNPs) was observed between the cases with azoospermia and oligozoospermia and controls with normozoospermia; associations of tagSNP-distinguished BRD7 alleles with sperm products were not identified. Conclusions The lack of an association of BRD7-linked rare and common variants with spermatogenic failure implied a limited contribution of the BRD7 gene to spermatogenic efficiency and susceptibility to male infertility in humans.

The Leu33/Pro Polymorphism (PIA1/PIA2 ) of the Glycoprotein IIIa (GPIIIa) Receptor Is Not Related to Myocardial Infarction in the ECTIM Study

1997 ◽  
Vol 77 (06) ◽  
pp. 1179-1181 ◽  
Author(s):  
Stefan-Martin Herrmann ◽  
Odette Poirier ◽  
Pedro Marques-Vidal ◽  
Alun Evans ◽  
Dominique Arveiler ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Acute Coronary Syndromes ◽  
Case Control Study ◽  
Case Control ◽  
Receptor Complex ◽  
Genotype Frequencies ◽  
Large Multicenter Study ◽  
Glycoprotein Iiia ◽  
Coronary Syndromes ◽  
Control Study

SummaryThe GPIIb/IIIa receptor complex may contribute to acute coronary syndromes by mediating platelet aggregation. The Leu33/Pro polymorphism (PlAl/PlA2) of the GPIIIa has recently been shown to be associated with CHD in a small case-control study. We have investigated this polymorphism in a large multicenter study of patients with myocardial infarction and controls and found no difference in the distribution of allele and genotype frequencies between cases and controls.

scholarly journals Household mold exposure interacts with inflammation-related genetic variants on childhood asthma: a case–control study

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yu Zhang ◽  
Li Hua ◽  
Quan-Hua Liu ◽  
Shu-Yuan Chu ◽  
Yue-Xin Gan ◽  
...  
Keyword(s):  
Childhood Asthma ◽  
Case Control Study ◽  
Additive Model ◽  
Case Control ◽  
Nucleotide Polymorphisms ◽  
Additive Interaction ◽  
Asthmatic Children ◽  
Gene Environment ◽  
Mold Exposure ◽  
Control Study

Abstract Background A number of studies have examined the association between mold exposure and childhood asthma. However, the conclusions were inconsistent, which might be partly attributable to the lack of consideration of gene function, especially the key genes affecting the pathogenesis of childhood asthma. Research on the interactions between genes and mold exposure on childhood asthma is still very limited. We therefore examined whether there is an interaction between inflammation-related genes and mold exposure on childhood asthma. Methods A case–control study with 645 asthmatic children and 910 non-asthmatic children aged 3–12 years old was conducted. Eight single nucleotide polymorphisms (SNPs) in inflammation-related genes were genotyped using MassARRAY assay. Mold exposure was defined as self-reported visible mold on the walls. Associations between visible mold exposure, SNPs and childhood asthma were evaluated using logistic regression models. In addition, crossover analyses were used to estimate the gene-environment interactions on childhood asthma on an additive scale. Results After excluding children without information on visible mold exposure or SNPs, 608 asthmatic and 839 non-asthmatic children were included in the analyses. Visible mold exposure was reported in 151 asthmatic (24.8%) and 119 non-asthmatic children (14.2%) (aOR 2.19, 95% CI 1.62–2.97). The rs7216389 SNP in gasdermin B gene (GSDMB) increased the risk of childhood asthma with each C to T substitution in a dose-dependent pattern (additive model, aOR 1.32, 95% CI 1.11–1.57). Children carrying the rs7216389 T allele and exposed to visible mold dramatically increased the risk of childhood asthma (aOR 3.21; 95% CI 1.77–5.99). The attributable proportion due to the interaction (AP: 0.47, 95% CI 0.03–0.90) and the relative excess risk due to the interaction (RERI: 1.49, 95% CI 0–2.99) were statistically significant. Conclusions In the present study, there was a significant additive interaction between visible mold exposure and rs7216389 SNP on childhood asthma. Future studies need to consider the gene-environment interactions when exploring the risk factors of childhood asthma.

scholarly journals Association between CTSS gene polymorphism and the risk of acute atherosclerotic cerebral infarction in Chinese population: a case–control study

2018 ◽  
Vol 38 (6) ◽  
Author(s):  
Lian Luo ◽  
Mingli Zhu ◽  
Jiajun Zhou
Keyword(s):  
Cerebral Infarction ◽  
Case Control Study ◽  
Case Control ◽  
Cathepsin S ◽  
Control Group ◽  
Study Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Independent Risk Factors ◽  
Control Study

Objective: To investigate the association between the gene polymorphisms of rs774320676, rs768437857, rs928508030, and rs2275235 loci of Cathepsin S (CTSS) and risk of acute atherosclerotic cerebral infarction. Methods: A total of 315 patients with acute atherosclerotic cerebral infarction (study group) and 220 healthy subjects (control group) were enrolled in the present study. The genetic polymorphism of rs774320676, rs768437857, rs928508030, and rs2275235 loci of CTSS of subjects was analyzed by PCR-Sanger sequencing. Results: The proportion of carriers with mutant T allele at rs774320676 locus and mutant G allele at rs928508030 locus of CTSS in study group was significantly higher than the proportion in control group (P=0.000, adjusted odds ratio (OR) = 1.332, 95% confidence interval (CI) = 1.200–1.460; P<0.001, adjusted OR = 1.185, 95% CI = 1.055–1.314; P=0.002). The T allele at rs774320676 locus and the G allele at rs928508030 locus of CTSS were independent risk factors for acute atherosclerotic cerebral infarction (OR = 2.534, 95% CI = 1.020–4.652, P=0.006; OR = 2.016, 95% CI = 1.031–4.385, P=0.031). Conclusion: The single nucleotide polymorphisms (SNPs) of rs774320676 and rs928508030 of CTSS gene were related with risk for acute atherosclerotic cerebral infarction. The T allele at rs774320676 locus and G allele at rs928508030 locus of CTSS were genetic susceptibility genes of acute atherosclerotic cerebral infarction.

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 Genetic association study of prolylcarboxypeptidase polymorphisms with susceptibility to essential hypertension in the Yi minority of China: A case–control study based on an isolated population

2020 ◽  
Vol 21 (2) ◽  
pp. 147032032091958 ◽  
Author(s):  
Yanrui Wu ◽  
Hongju Yang ◽  
Chunjie Xiao
Keyword(s):  
Essential Hypertension ◽  
Case Control Study ◽  
Strong Association ◽  
Case Control ◽  
Negative Regulator ◽  
Mountainous Area ◽  
Nucleotide Polymorphisms ◽  
Kinin System ◽  
Kallikrein Kinin System ◽  
Control Study

Objective: Prolylcarboxypeptidase (PRCP) is a negative regulator of the pressor actions of the renin–angiotensin–aldosterone system. It is also involved in the kallikrein–kinin system. This gene has an important role in blood pressure (BP) regulation. Methods: A case–control study was performed for 615 Yi participants (303 cases and 312 controls) from a remote mountainous area in Yunnan Province of China. For the PRCP gene, 11 tag single-nucleotide polymorphisms were genotyped using the polymerase chain reaction-restriction fragment length polymorphism method. Results: The PRCP gene rs12290550 was associated with the occurrence of essential hypertension (EH) and BP traits. Logistic regression analysis indicated that the rs12290550 T allele was significantly linked to the risk of EH (odds ratio (OR) = 1.85, 95% confidence interval (CI) 1.44–2.39, p = 0.2 × 10−5). Under Bonferroni correction, the H7 TAGCACTAACA haplotype containing the risk allele rs12290550 T increased the risk of EH (OR = 4.53, 95% CI 2.29–8.93, p = 0.2×10−5). Conclusions: The findings of this study demonstrate the strong association of the PRCP gene with EH. rs12290550 may be a useful genetic predictor of EH in the Yi minority.

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