Mitochondrial nicotinamide adenine dinucleotide hydride dehydrogenase (NADH) subunit 4 (MTND4) polymorphisms and their association with male infertility

Abstract Purpose The purpose of the present study was to determine the relationship between infertility and the polymorphisms of mitochondrial NADH dehydrogenase subunit 4 (MTND4) by spermatozoa analysis in fertile and subfertile men. Methods Samples were divided into 68 subfertile men (case group) and 44 fertile men (control group). After semen analysis, samples were purified. The whole genome was extracted using a QIAamp DNA Mini Kit and the mitochondrial DNA was amplified by using the REPLI-g Mitochondrial DNA Kit. Polymerase chain reaction (PCR) was used to amplify the MT-ND4 gene. Then, samples were purified and sequenced using the Sanger method. Results Twenty-five single-nucleotide polymorphisms (SNPs) were identified in the MTND4 gene. The genotype frequencies of the study population showed a statistically significant association between rs2853495 G>A (Gly320Gly) and male infertility (P = 0.0351). Similarly, the allele frequency test showed that rs2853495 G>A (Gly320Gly) and rs869096886 A>G (Leu164Leu) were significantly associated with male infertility (adjusted OR = 2.616, 95% CI = 1.374–4.983, P = 0.002; adjusted OR = 2.237, 95% CI = 1.245–4.017, P = 0.007, respectively). Conclusion In conclusion, our findings suggested that male infertility was correlated with rs2853495 and rs869096886 SNPs in MTND4.

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Relationship between CDH23 gene and risk of noise-induced hearing loss

10.21203/rs.3.rs-276861/v1 ◽

2021 ◽

Author(s):

Jie Jiao ◽

Shanfa Yu ◽

Guizhen Gu ◽

Guoshun Chen ◽

Huanling Zhang ◽

...

Keyword(s):

Hearing Loss ◽

Noise Exposure ◽

Control Group ◽

Case Group ◽

Noise Induced Hearing Loss ◽

Nucleotide Polymorphisms ◽

Significant Relationships ◽

Increased Risk ◽

Main Effects ◽

The Relationship

Abstract Objective: To investigate the relationship between CDH23 gene and the risk of noise-induced hearing loss (NIHL).Methods: This was a case-control study. Noise-exposed workers worked in a steel factory in North China was recruited and been divided into two groups: the case group (BHFTA ≥40 dB) and the control group (BHFTA<25 dB). We analyzed the association among 18 single nucleotide polymorphisms (SNPs) in CDH23 and NIHL risk using the generalized multifactor dimensionality reduction (GMDR) method. Logistic regression was performed to analyze the main effects of SNPs and the interactions between CNE and SNPs adjusting cumulative noise exposure (CNE), smoking, drinking, physical exercise and hypertension. Results: In this study, 776 subjects of period I and 1117 subjects of period I+II were recruited. The results showed that subjects who carried the AA genotype of rs3802711possessed significantly increased risk of NIHL than those carrying GG (OR: 2.71; 95% CI:1.15, 6.39) and GA+GG (OR: 2.54; 95% CI: 1.09, 6.00) in period I, respectively. For rs11592462, subjects carrying the GG genotype showed a significantly increased risk of NIHL compared with the subjects. Significant relationships were showed between rs10999947, rs3802711, rs10762480, rs3752751, rs3752752, rs3747867, and rs11592462 for NIHL overall and various CNE strata. There was no significant association between the rs1227049 - rs3752752 - rs10999947 - rs3752751 - rs10762480 - rs3802711 - rs11592462 - rs4747195 - rs4747194 - rs10466026 haplotypes and NIHL risk. Conclusions: The genetic variation in the CDH23 gene might play an important role in determining individual susceptibility to NIHL.

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CD44, IL-33, and ST2 Gene Polymorphisms on Hepatocellular Carcinoma Susceptibility in the Chinese Population

BioMed Research International ◽

10.1155/2020/2918517 ◽

2020 ◽

Vol 2020 ◽

pp. 1-11

Author(s):

Xiaolan Pan ◽

Meiqin Li ◽

Lei Huang ◽

Dan Mo ◽

Yihua Liang ◽

...

Keyword(s):

Hepatocellular Carcinoma ◽

Single Nucleotide Polymorphisms ◽

Chinese Population ◽

Haplotype Analysis ◽

Control Group ◽

Case Group ◽

Nucleotide Polymorphisms ◽

Cancer Stemness ◽

Single Nucleotide ◽

The Relationship

The interleukin- (IL-) 33/ST2 axis plays a pivotal role in tumorigenesis through influencing cancer stemness and other mechanisms. CD44 is one of the critical markers of hepatocellular carcinoma (HCC) among the cancer stem cells (CSCs). There is still a lack of CD44 gene single-nucleotide polymorphisms (SNPs) combined with IL-33/ST2 pathway single-nucleotide polymorphisms in HCC susceptibility analysis literature, although CD44 and IL-33/ST2 have been reported separately in human cancers. This study is aimed at investigating the relationship between CD44, IL-33, and ST2 SNPs and HCC susceptibility and clinicopathological features. We analyzed 565 HCC patients and 561 healthy controls in the Chinese population. The genes for CD44rs187115A>G, IL-33 rs1929992A>G, and ST2 rs3821204G>C were typed using the SNaPshot method. We found that the distribution frequencies of CD44 and ST2 alleles and genotypes in both the HCC case group and the control group were statistically significant ( p < 0.05 ). The results showed that individuals carrying at least one G allele of the CD44 rs187115 gene were at a higher risk than the AA genotype carriers ( p = 0.007 , odds ratio OR = 1.429 , 95% confidence interval (CI): 1.102–1.854). Similarly, individuals with at least one C allele of ST2 rs3821204 had a higher risk of HCC than those with GG genes ( p ≤ 0.001 , OR = 1.647 , 95% CI: 1.296-2.093). Combining the haplotype analysis of the 3 loci suggested that CD44 rs187115, IL-33 rs1929992, and ST2 rs3821204 are associated with the risk of HCC and could potentially serve as useful genetic markers for HCC in some populations of China.

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Correlations between ACE single nucleotide polymorphisms and prognosis of patients with septic shock

Bioscience Reports ◽

10.1042/bsr20170145 ◽

2017 ◽

Vol 37 (2) ◽

Cited By ~ 3

Author(s):

Xin-Man Dou ◽

Hui-Juan Cheng ◽

Ling Meng ◽

Lin-Lin Zhou ◽

Yi-Hong Ke ◽

...

Keyword(s):

Septic Shock ◽

Single Nucleotide Polymorphisms ◽

Survival Curve ◽

Control Group ◽

Case Group ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Kaplan Meier ◽

Genotype Frequencies ◽

Ace Activity

The aim of the present study is to investigate association between septic shock (SS) and angiotensin I-converting enzyme (ACE) single nucleotide polymorphisms (SNPs). From October 2009 to December 2016, 238 SS patients and 242 healthy individuals were selected for our study. ACE activity was detected, ACE rs4291 and rs4646994 polymorphisms were detected using PCR-restriction fragment length polymorphism (PCR-RFLP). The Kaplan–Meier survival curve was employed to evaluate the association between ACE SNPs and patients’ survival and univariate and multivariate analyses to estimate risk factors for SS. ACE activity in the case group was increased in comparison with the control group. Allele and genotype frequencies of rs4291 and rs4646994 were different between the case and control groups. The TT genotype frequency of the rs4291 polymorphisms and the DD genotype of the rs4646994 polymorphisms of the case group were higher than those in the control group. The AT and TT genotypes indicated a significant elevation of ACE activity than the AA genotype, while a significant decline was found in the DI and II genotypes in comparison with the DI genotype. Patients with TT or DD genotypes had increased fatality rate within 7 and 30 days when compared with those with non-TT or non-DD genotypes. Lower sepsis-related organ failure assessment (SOFA) scores, rs4291, serum ACE and rs4646994 were all considered as risky factors for SS patients. The study demonstrates that TT genotype of rs4291 or DD genotype of rs4646994 may be indicative of a higher risk of SS and a poorer prognosis in SS patients.

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AURKC Gene Polymorphism (rs58264281) Associated with Idiopathic Male Infertility Risk in Northeast of Iran: A Case-Control Study

Gene Cell and Tissue ◽

10.5812/gct.119544 ◽

2021 ◽

Vol In Press (In Press) ◽

Author(s):

Mohammadreza Behvarz ◽

Seyyed Ali Rahmani ◽

Elham Siasi Torbati ◽

Shahla Danaei Mehrabad ◽

Maryam Bikhof Torbati

Keyword(s):

Male Infertility ◽

Gene Polymorphism ◽

Significant Risk ◽

Human Reproduction ◽

Proteinase K ◽

Control Group ◽

Case Group ◽

Amplification Refractory Mutation System ◽

Nucleotide Polymorphisms ◽

Idiopathic Male Infertility

Background: Infertility is a major public health and social problem in human reproduction that is known as a multifactorial complex disorder. Genetic background and mutations and single nucleotide polymorphisms (SNPs) on the genes involved in sperm development are the important causes of male infertility. Objectives: In this study, we evaluated the association of AURKC gene polymorphism (rs58264281) and idiopathic male infertility in the Iranian Azeri population. Methods: This study was performed among 100 men with idiopathic infertility (case group) and 100 healthy men with successful fertility (control group) from East Azerbaijan, Iran. Genomic DNA extraction was carried out from peripheral blood samples by the proteinase K method. Genotype analysis was conducted by the tetra-primer amplification refractory mutation system-polymerase chain reaction (Tetra-ARMS PCR). SPSS version 21 was used for the analysis of the obtained data. Results: We observed that the CA and AA genotypes were significantly increased in patients with infertility as compared to healthy controls. Our results demonstrated that the mutant allele of AURKC gene polymorphism (rs58264281) was a significant risk factor in male infertility. Conclusions: We suggested a significant correlation between the AURKC gene rs58264281 polymorphism and male infertility in the Iranian Azeri population. However, further studies are required among other ethnicities, races, and geographic areas with larger sample sizes.

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Relationship between ADAMTS14/rs4747096 gene polymorphism and knee osteoarthritis in Chinese population

Bioscience Reports ◽

10.1042/bsr20181413 ◽

2018 ◽

Vol 38 (5) ◽

Cited By ~ 2

Author(s):

Sen Ma ◽

Cheng Ouyang ◽

Shuxin Ren

Keyword(s):

Gene Polymorphism ◽

Knee Osteoarthritis ◽

Chinese Han Population ◽

Control Group ◽

Case Group ◽

Genotype Distribution ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Han Population ◽

Genotype Frequencies

To investigate the association between single nucleotide polymorphisms (SNPs) of A disintegrin and metalloproteinase with thrombospondin motifs (ADAMTS) 14 (ADAMTS14) gene and susceptibility to knee osteoarthritis (KOA) in Chinese Han population. Using a case–control design, we enrolled 346 KOA patients and 480 healthy controls. Peripheral blood samples were extracted from each subject. Genotype was determined by sequencing PCR products. The genotype frequencies between cases and controls were compared. The genotype distribution was in accordance with Hardy–Weinberg equilibrium. The minor G allele in case group was significantly higher than in the control group (21.4 compared with 8.8%, P=0.000, odds ratio (OR) = 1.71 (95% confidence interval (CI): 1.39–2.11). The GG genotype and the GG/AG combination were more common in the osteoarthritis (OA) group than in the control group. Compared with AA genotype, the GG (OR = 3.09, 95%CI: 2.01–4.75), AG (OR = 2.55, 95%CI: 1.64–3.96), and GG/AG (OR = 1.57, 95%CI: 1.19–2.07) increased the risk of OA. Multiple logistic confirmed the findings by adjusting some potential factors. Subgroup analysis indicated that the ras4747096 was still significantly associated with KOA. There were no significant differences in allele frequency or genotypes frequency for erythrocyte sedimentation rate and C-reaction protein in OA patients (P>0.05). ADAMTS14 gene polymorphism was associated with KOA, and the GG genotype increased the risk of KOA in Chinese Han population. The ADAMTS14 may be a diagnostic marker and therapeutic target for KOA treatment. The future study should explore the specific molecular mechanism.

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IL-4Gene Polymorphism May Contribute to an Increased Risk of Atopic Dermatitis in Children

Disease Markers ◽

10.1155/2016/1021942 ◽

2016 ◽

Vol 2016 ◽

pp. 1-6 ◽

Cited By ~ 11

Author(s):

Hong Shang ◽

Xiu-Li Cao ◽

Yu-Jie Wan ◽

Jin Meng ◽

Lu-Hong Guo

Keyword(s):

Atopic Dermatitis ◽

Allele Frequencies ◽

Interleukin 4 ◽

Control Group ◽

Case Group ◽

Healthy Children ◽

Nucleotide Polymorphisms ◽

Genotype Frequencies ◽

Increased Risk ◽

Severe Group

This study aimed to elucidate the associations betweeninterleukin-4(IL-4) single nucleotide polymorphisms (SNPs), 590C/T and 589C/T, serum IL-4 levels, and atopic dermatitis (AD) in children.Methods. A total of 82 children with AD were randomly selected as the case group and divided into mild group (15 cases), moderate group (46 cases), and severe group (21 cases). Additionally, 100 healthy children were selected as the control group. Genotype frequencies of IL-4 SNPs were detected by PCR-RFLP. Serum IL-4 levels were measured by ELISA.Results. Significant differences were shown in genotype distributions and allele frequencies of 589C/T and allele frequencies of 590C/T (allP<0.05). Serum IL-4 levels in the mild, moderate, and severe groups were significantly higher than those in the control group; significant differences were found among these three groups with increased severity of AD. Serum IL-4 levels of heterozygote and mutant homozygote carriers in the mild, moderate, and severe groups were higher than wild homozygote carriers in those three groups and the control group (allP<0.05).Conclusion. 590T and 589T alleles ofIL-4gene may be associated with high levels of serum IL-4, which may increase the risk of AD in children.

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The Association between Polymorphism-119G>A of the Alpha-Fetoprotein Gene and Increased Serum Alpha- Fetoprotein Level: A Case Control Study

World Journal of Peri & Neonatology ◽

10.18502/wjpn.v3i1.5059 ◽

2020 ◽

Author(s):

Mahdieh Yavari ◽

Saghar Zakeri ◽

Mahta Mazaheri

Keyword(s):

Pregnant Women ◽

Neural Tube ◽

Neural Tube Defects ◽

Fetal Liver ◽

Alpha Fetoprotein ◽

Control Group ◽

Case Group ◽

Serum Alpha Fetoprotein ◽

Study Population ◽

The Relationship

Background: Alpha-fetoprotein is produced during pregnancy by the yolk sac, and then by the fetal liver. This hormone is secreted from early pregnancy, but its level of measurement is important from 15 to 21 weeks of gestation. The secretion of this hormone is very important because an increase in this hormone is associated with neural tube defects (NTDs) in the fetus. In this study, we analyzed the association between polymorphism-119G>A in the alpha-fetoprotein (AFp ) gene with increased AFP levels in mothers with no neural tube defects in their fetus.Methods: Participants were 50 pregnant women who had high alpha-fetoprotein but no neural tube defects in their fetus (the case group) and 50 pregnant women that their alpha fetoprotein was normal with no neural tube defects in their fetus (control group). After DNA extraction, the fragment including the desired polymorphism was amplified using the PCR technique, and then sequenced.Results: The results of this study showed that there was no significant relationship between this polymorphism and the increase in alpha fetoprotein in the study population. Conclusion: Future studies are needed to investigate other polymorphisms with higher specimens, and the relationship between this polymorphism, and the survival rate of pregnant mothers in the Iranian population.

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IL-10-592 A/C Gene Polymorphism and Cytokine Levels are Associated with Susceptibility to Drug Resistance in Tuberculosis

Turkish Journal of Immunology ◽

10.25002/tji.2020.1235 ◽

2020 ◽

Vol 8 (3) ◽

pp. 103-112

Author(s):

Atefeh SADEGHI SHERMEH ◽

Majid KHOSHMIRSAFA ◽

Ali-Akbar DELBANDI ◽

Payam TABARSI ◽

Esmaeil MORTAZ ◽

...

Keyword(s):

Serum Levels ◽

World Health ◽

Control Group ◽

Drug Resistant ◽

Nucleotide Polymorphisms ◽

Genotype Frequencies ◽

Cytokine Levels ◽

Ifn Γ ◽

Health Organization ◽

And Function

Introduction: Tuberculosis (TB) and especially resistant forms of it have a substantial economic burden on the community health system for diagnosis and treatment each year. Thus, investigation of this field is a priority for the world health organization (WHO). Cytokines play important roles in the relationship between the immune system and tuberculosis. Genetic variations especially single nucleotide polymorphisms (SNPs) impact cytokine levels and function against TB. Material and Methods: In this research SNPs in IFN-γ (+874 T/A) and IL-10 (-592 A/C) genes, and the effects of these SNPs on cytokine levels in a total of 87 tuberculosis patients and 100 healthy controls (HCs) were studied. TB patients divided into two groups: 1) 67 drug-sensitive (DS-TB) and 2) 20 drug-resistant (DR-TB) according to drug sensitivity test using polymerase chain reaction (PCR). For the genotyping of two SNPs, the PCR-based method was used and IFN-γ and IL-10 levels were measured by ELISA in pulmonary tuberculosis (PTB) and control group. Results: In -592A/C SNP, only two genotypes (AA, AC) were observed and both genotypes showed statistically significant differences between DR-TB and HCs (p=0.011). IL-10 serum levels in PTB patients were higher than HCs (p=0.02). The serum levels of IFN-γ were significantly higher in DS-TB patients than that of the other two groups (p<0.001); however, no significant differences were observed for allele and genotype frequencies in IFN-γ +874. Conclusions: Our results suggest that the SNP at -592 position of IL-10 gene may be associated with the susceptibility to DR-TB. However, further investigation is necessary. Keywords: Polymorphism, IFN-γ, IL-10, tuberculosis, drug-resistant tuberculosis

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Impact of Physical Activity on the Incidence of Vascular Diseases in Adults with Type 2 Diabetes Mellitus

10.31661/gmj.v0i0.1549 ◽

2019 ◽

Vol 8 ◽

pp. 1549

Author(s):

Babak Pezeshki ◽

Ehsan Bahramali ◽

Amir Ansari ◽

Aliasghar Karimi ◽

Mojtaba Frajam ◽

...

Keyword(s):

Physical Activity ◽

Diabetes Mellitus ◽

Vascular Function ◽

Vascular Diseases ◽

Major Complication ◽

Control Group ◽

Case Group ◽

Vascular Events ◽

The Relationship

Background: Diabetes mellitus (DM) is a common metabolic disease worldwide and has many complications. The vascular events are the major complication of DM that have an important effect on mortality and disability. The physical activity (PA) enhances the vascular function by several pathways. The aim of this study was to evaluation of the relationship between PA and vascular diseases in patients with DM.Materials and Methods: This research was performed as the case-control study that was extracted from a prospective epidemiological research study in Iran (PERSIAN). The patients with type 2 DM more than six months defined as case group and the non-DM subjects in control group with ratio 1:2, and both groups were matched in the term of age and sex. The MET score was used to evaluate the level of PA and blood glucose, lipid profile, body mass index, overweight, dyslipidemia, glomerular filtration rate, myocardial infarction (MI), unstable angina, and stroke.Results: Overall, 1242 patients with DM were extracted, and 2484 non-diabetic subjects were investigated. In the case group, 355(28.6 %) and 887(71.4%) were men and women, respectively, the and 710 (28.6%) men and 1774(71.4%) women in control group. The mean MET score was 30 and 40.97 in the DM and non-DM groups, respectively (P˂0.001). The frequency of MI, stroke, and cardiac ischemia were 44 (3.5%), 37 (3%), and 267 (21.5%), respectively in DM group, and 54 (2.2%), 43 (1.7%), and 389 (15.7%), respectively in non-DM group.Conclusion: The incidence of vascular events associated with PA level in patients with DM and adherence to regular PA reduce the vascular events and DM complications. [GMJ.2019;inpress:e1549]

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BAX gene (−248 G > A) polymorphism in a sample of patients diagnosed with thyroid cancer in the Federal District, Brazil

The International Journal of Biological Markers ◽

10.1177/17246008211057576 ◽

2021 ◽

pp. 172460082110575

Author(s):

Ligia C.A. Cardoso-Duarte ◽

Caroline F. Fratelli ◽

Alexandre S.R. Pereira ◽

Jéssica Nayane Gomes de Souza ◽

Renata de Souza Freitas ◽

...

Keyword(s):

Thyroid Cancer ◽

Papillary Thyroid Cancer ◽

Protective Factor ◽

Federal District ◽

Genotypic Difference ◽

Control Group ◽

Nucleotide Polymorphisms ◽

Papillary Thyroid ◽

Genotype Frequencies ◽

Bax Gene

Introduction Papillary thyroid cancer corresponds to approximately 1% of all carcinomas; nevertheless, it is the most prevalent endocrine neoplasm in the world. Studies reveal that the BAX (−248 G > A) polymorphism may be associated with negative regulation of BAX gene transcription activity, causing a decrease in its protein expression. Objective The present study aimed to describe the genotype and allele frequencies of BAX single nucleotide polymorphisms (−248 G > A) (rs4645878) in the research patients, and to associate its presence with susceptibility to papillary thyroid cancer. Methods This case-control study was conducted with 30 patients with papillary thyroid cancer. For the evaluation of genetic polymorphisms, the polymerase chain reaction-restriction fragment length polymorphism technique was employed. Allele and genotype frequencies were estimated using the SPSS program, and significant associations were considered when p < 0.05. Results There was a significant genotypic difference between papillary thyroid cancer and the control group (p = 0.042). The GG genotype provided a protective factor for papillary thyroid cancer (p = 0.012, odds ratio (OR) = 0.313; confidence interval (CI) = 0.123–0.794). Likewise the G allele was a protective factor for papillary thyroid cancer (p = 0.009; OR = 0.360; CI = 0.163–0.793). The BAX gene polymorphism (−248 G > A) was associated with papillary thyroid cancer. Conclusion BAX (−248 G > A) GG genotype carriers, or at least one mutated allele, was associated with papillary thyroid cancer in the Brazilian population studied, and the G allele presence is considered a protective factor against papillary thyroid cancer occurrence.

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