scholarly journals Association of Novel Single Nucleotide Polymorphisms of Genes Involved in Cell Functions with Male Infertility: A Study of Male Cases in Northwest Iran

2021 ◽  
Author(s):  
Elham Ghadrkhomi ◽  
Seyed Abdolhamid Angaji ◽  
Maryam Khosravi ◽  
Mohammad Reza Mashayekhi
Keyword(s):  
Male Infertility ◽  
Nucleotide Polymorphisms ◽  
Control Groups ◽  
Single Nucleotide ◽  
Cell Functions ◽  
Infertile Men ◽  
Significant Difference ◽  
And Control ◽  
Strength Of Association ◽  
Global Health Problem

Background: Infertility is a global health problem caused by various environmental and genetic factors. Male infertility accounts for 40–50% of all cases of infertility and approximately half of them are grouped as idiopathic with no definitive causes. Previous studies have suggested an association between some SNPs and infertility in men. In this study, an attempt was made to investigate the association of 7 different SNPs of 4 genes involved in common cell functions with male infertility. Methods: MTHFR rs1801131 (T>G), MTHFR rs2274976 (G>A), FASLG rs80358238 (A>G), FASLG rs12079514 (A>C), GSTM1 rs1192077068 (G>A), BRCA2 rs4987117 (C>T), and BRCA2 rs11571833 (A>T) were genotyped in 120 infertile men with idiopathic azoospermia or severe oligospermia and 120 proven fertile controls using ARMS-PCR methods. Next, 30% of SNPs were regenotyped to confirm the results. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated using SPSS statistical software to evaluate the strength of association. The p˂0.05 were considered statistically significant. Results: Statistical analysis revealed significant association between MTHFR rs-2274976 AA variant (OR: 10.00, CI: 3.203-31.225), FASLG rs12079514 AC variant (OR: 0.412, CI: 0.212-0.800), and BRCA2 rs11571833 TT variant OR: 6.233, CI: 3.211-12.101) with male infertility, but there was no significant difference between case and control groups in MTHFR rs1801131 (p= 0.111), GSTM1 rs1192077068 (p=0.272), BRCA2 rs4987117 (p=0.221), and FASLG rs80358238 (p=0.161). Conclusion: Our findings suggested that some novel polymorphisms including MTHFR rs2274976, FASLG rs12079514, and BRCA2 rs11571833 might be the possible predisposing risk factors for male infertility in cases with idiopathic azoospermia. 

scholarly journals Evaluation of the Association between Programmed Cell Death-1 Gene Polymorphisms and Hepatocellular Carcinoma Susceptibility in Turkish Subjects. A Pilot Study

2020 ◽  
Author(s):  
Abdullah Fatih Demirci ◽  
Coskun Ozer Demirtas ◽  
Fatih Eren ◽  
Demet Yilmaz ◽  
Caglayan Keklikkiran ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Cell Death ◽  
Programmed Cell Death ◽  
Turkish Population ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Programmed Cell Death 1 ◽  
Significant Difference ◽  
And Control

Background and Aims: Programmed cell death-1 (PD-1) has a vital role in regulating T-cell function, and immune escape mechanism of cancer cells. It was shown that there could be a relationship between single nucleotide polymorphisms (SNPs) in the PD-1 gene and susceptibility to hepatocellular carcinoma (HCC) based on various studies. We aimed to investigate the role of three SNPs within the PD-1 gene in susceptibility to HCC in the Turkish population. Methods: Single nucleotide polymorphisms of PD-1.1, 1.5, and 1.6 were genotyped by using TaqMan Allelic Discrimination Assays in blood samples of 137 HCC and 136 control subjects, matched for age and gender. The genotype, allele and haplotype frequencies were compared in HCC and control groups using logistic regression analysis. Results: Genotype distributions of PD-1.1, PD-1.5 and PD-1.6 SNPs were in Hardy-Weinberg equilibrium. No significant difference was observed in the genotype distribution of PD-1.1, PD-1.5 and PD-1.6 polymorphisms among gender and age-matched HCC (M/F: 96/41; mean age: 61.4 ±11.7 years) and control group (M/F: 94/42; mean age: 61.4±10.1). In the haplotype analysis of PD-1.1/PD-1.5/PD-1.6, no significant difference was found among HCC and control group adjusted for sex and age (all p values>0.1). Conclusion: Our findings, firstly reporting the association of PD-1.5 polymorphism with HCC, and PD-1.1 and PD-1.6 with HCC in the Turkish population, suggest that PD-1 polymorphisms are not predisposing factors for HCC development. Future studies with larger sample sizes and different ethnic populations are required to validate our findings.

scholarly journals Association of p53Pro72Arg (rs1042522) and MDM2309 (rs2279744) polymorphisms with risk for cervical intraepthelial lesions and cervical cancer development in Macedonian women

2016 ◽  
Vol 62 (2) ◽  
pp. 49-58
Author(s):  
Sotirija Duvlis ◽  
Marija Hiljadnikova Bajro ◽  
Dijana Plaseska Karanfilska
Keyword(s):  
Cervical Cancer ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Significant Difference ◽  
Promoter Gene ◽  
The Republic ◽  
Cervical Cancer Development ◽  
Negative Controls ◽  
And Control ◽  
Intraepithelial Lesions

High risk Human Papillomavirus (HPV) is an important etiological factor in initiation of squamous intraepithelial lesions (SIL), but not enough for malignant progression to cervical cancer (CCa). Single nucleotide polymorphisms (SNPs): rs1042522 within the codon 72 of p53 and rs2279744 within MDM2 promoter gene are plausible factors for development of SIL or CCa conferring increased attenuation of p53 pathway. We investigated the association of these SNPs with the HPV positive SIL and CCa among women from the Republic of Macedonia. Using a multiplex PCR SNaPShot analysis we genotyped rs1042522 and rs2279744 in 131 HPV positive women with SIL or CCa and 110 HPV and cytologicaly negative controls subject. No significant difference in either genotype or allelic frequencies for rs1042522 and rs2279744 between cases and control was found. The stratification of patients on the basis of the lesion grade revealed lower frequency of CC genotype and C allele of rs1042522 in HSIL and CCa compared to LSIL [GG vs CC; p=0.001, OR=0.4; CG vs CC; p=0.04, OR=0.03 and CG+ GG vs CC; p=0.004, OR=0.2]. Additionally TT genotype and T allele of MDM2 309 showed significantly lower frequency in HSIL and CCa group then in LSIL [G vs T p=0.02, OR=0.52; GG vs TT; p=0.04, OR=0.29; ТТ vs ТG+GG; p=0.007, OR=0.34].The Arg variant of rs1042522 and T allele/TT genotype of rs2279744 are associated with progression to LSIL to HSIL or CCa and may be used as prediction markers in CCa management, but the clinical relevant warrants further validation in large and well-designed studies

scholarly journals Variations in MHC-DRB1 exon2 and associations with Brucellosis susceptibility in Chinese Merino sheep

2016 ◽  
Author(s):  
Yue’e Chen ◽  
Wanyun Xu ◽  
Chuangfu Chen ◽  
Hugh T Blair ◽  
Jianfeng Gao
Keyword(s):  
Haplotype Analysis ◽  
Nucleotide Polymorphisms ◽  
Control Groups ◽  
Single Nucleotide ◽  
Merino Sheep ◽  
Pcr Products ◽  
Polymerase Chain ◽  
And Control ◽  
Control Samples ◽  
Online Software

MHC-DRB1 exon2 was amplified by polymerase chain reaction (PCR) from 126 healthy and 67 Brucellosis-infected Chinese Merino sheep. PCR products were analyzed using the SSCP technique, and then cloned to allow sequencing of the different alleles. For each SNP, allelic and genotypic frequencies were compared between case and control samples, in addition the association with Brucellosis susceptibility was determined. Haplotypes and their frequencies were established and analyzed by SHEsis online software. There were forty-one single nucleotide polymorphisms (SNPs) in the 270 bp DNA sequence. The distribution of C>T alleles at locus 109 was significantly different between case and control samples. The linkage disequilibrium (LD) analysis showed that there were nine LD blocks in MHC-DRB1 exon2 and strong LD between SNPs existed in every Block. Haplotype analysis identified nine haplotypes with strong LD, but only Hap8 and Hap9 in case-control groups were significantly different (P<0.05); neither haplotype contained the C>T allele at locus 109. In conclusion, genetic variants of MHC-DRB1 gene exon2 demonstrated associations with Brucellosis susceptibility, indicating that further research is warranted.

Estrogen Receptor Alpha Gene Single Nucleotide Polymorphisms, +2464 C/T and -4576A/C, and Breast Cancer Risk, a Hospital-Based Case-Control Study

2019 ◽  
Author(s):  
Ali Akbar Amirzargar ◽  
Maryam Sadr ◽  
Samira Esmaeili Reykande ◽  
Elham Mohebbi ◽  
Mohammad Shirkhoda ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Estrogen Receptor ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Single Nucleotide Polymorphisms ◽  
Estrogen Receptor Alpha ◽  
Nucleotide Polymorphisms ◽  
Control Groups ◽  
Single Nucleotide ◽  
And Control

Background: Estrogen is a risk factor for the development of breast cancer. The effect of estrogen is primarily mediated by estrogen receptor alpha 1 (ESR1). In this study, we investigated the association between breast cancer risk and the frequency of alleles and genotypes for two ESR1 single nucleotide polymorphisms (SNPs) in breast cancer patients and a healthy control group. Methods: A total of 98 female patients with pathologically confirmed breast cancer and 93 age-matched healthy female controls who were selected from the visitors of the general hospital were recruited in the study. Two ESR1 candidate polymorphisms; +2464 C/T (rs3020314) and -4576 A/C (rs1514348) were selected. The frequency of alleles and genotypes was determined using Quantitative Real-Time PCR assay. Linkage disequilibrium (LD) was assessed for each pair of markers. Using logistic regression, genotype frequencies were estimated as odds ratios with 95% confidence intervals. Results: There was no significant difference in the genotype and allele distributions of ESR1 for SNPs +2464 C/T and SNP -4576 A/C between patients and controls. The frequency of the ESR1 +2464 T/T genotype in case and control groups was 31.6% vs 29.0%, (OR TT/TC: 1.13, 95%CI: 0.58, 2.20; P = 0.69). The frequency of the +2464C allele was 33.9% vs 35.2%, (OR C/T: 0.94, 95%CI: 0.60, 1.47; P =0.79). The frequency of the ESR1 -4576C/C genotype in case and control groups was 37.75% vs 33.36%, OR CC/AC: 1.02, 95%CI: 0.51, 1.97; P =0.98). The frequency of the -4576A allele was 36.2% vs 43.6 %, (OR C/A: 0.73, 95%CI: 0.47, 1.13; P =0.14). Conclusion: The results indicated that ESR1 polymorphism does not show any significant association with breast cancer risk among female Iranian adults.

scholarly journals Association of three single nucleotide polymorphisms of the E-cadherin gene with endometriosis in a Chinese population

Reproduction ◽  
2007 ◽  
Vol 134 (2) ◽  
pp. 373-378 ◽  
Author(s):  
Kang Shan ◽  
Ma Xiao-Wei ◽  
Wang Na ◽  
Zhang Xiu-Feng ◽  
Wen Deng-Gui ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Chinese Women ◽  
Gene Promoter ◽  
Nucleotide Polymorphisms ◽  
Promoter Polymorphisms ◽  
Single Nucleotide ◽  
Altered Expression ◽  
Significant Difference ◽  
And Control ◽  
E Cadherin

Endometriosis, one of the most frequent diseases in gynecology, is a benign but invasive and metastatic disease. The altered expression of E-cadherin may play an important role in developing endometriosis. In this paper, we discuss the association of three single nucleotide polymorphisms (SNPs) on the E-cadherin gene and risk of endometriosis. We examined the genotype frequency of three polymorphisms in 152 endometriosis patients and 189 control women. There was a significant difference in the frequency of the E-cadherin 3′-UTR C → T genotypes between endometriosis and controls (P = 0.01). The frequency of the C allele in patients (71.1%) was significantly higher than in the controls (63.8%; P = 0.04). When compared with the T/T + T/C genotypes, the C/C genotype had a significantly increased susceptibility to endometriosis, with an adjusted odds ratio of 1.79 (95% confidence interval = 1.17–2.76). No significant difference was found between endometriosis and control women on two polymorphisms (−160 C → A, −347 G → GA) at the gene promoter region of E-cadherin. The −160 C → A and −347 G → GA polymorphisms displayed linkage disequilibrium (D′ = 0.999). The −160 A/−347 GA haplotype was only detected in endometriosis patients (2%). These data show a relation between the E-cadherin 3′-UTR C → T polymorphism, the −160 A/−347 GA haplotype of two promoter polymorphisms and risk of endometriosis, suggesting a potential role in endometriosis development, at least in North Chinese women.

P–517 The relationship between mitochondrial gene CYB (MT-CYB) single nucleotide polymorphisms and male infertility

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
M Jawish ◽  
F W Dahadhah ◽  
M Ei. Hammadeh ◽  
H Amor
Keyword(s):  
Mitochondrial Dna ◽  
Single Nucleotide Polymorphisms ◽  
Male Infertility ◽  
Male Fertility ◽  
Mitochondrial Gene ◽  
Nucleotide Polymorphisms ◽  
Control Groups ◽  
Mt Dna ◽  
Single Nucleotide ◽  
Frequency Test

Abstract Study question Do single nucleotide polymorphisms of the mitochondrial gene CYB (MT-CYB) affect male fertility? Summary answer there was a significant association between male fertility and rs527236194, rs28357373, and rs41504845 single nucleotide polymorphisms of the mitochondrial gene CYB (MT-CYB). What is known already Male infertility can be occurred as a result of various factors. However, genetic factors are detected in 15% of male infertility cases and can be classified into two groups: chromosomal abnormalities and single gene mutations. Sperm mitochondrial DNA alterations may have serious effects on spermatogenesis, sperm motility and the ability of sperm to fertilize the oocyte. Mutations of the MT-CYB gene might lead to various disorders and deficiencies specially in complex III which might interrupt in the ATP production process. Study design, size, duration: 111 semen samples were included in this prospectively designed study which carried out between 2017 and August 2019. Participants/materials, setting, methods: This study carried out at the Department of Obstetrics and Gynecology at Saarland University, Germany. Samples were divided into 67 subfertile “cases” and 44 fertile “control” groups. After preparation of semen samples by density gradient centrifugation, nuclear and mitochondrial DNA (MT-DNA) was extracted using QIAamp DNA Mini Kit from QIAGEN. Thereafter, the MT-DNA was amplified using REPLI-g Mitochondrial DNA Kit from QIAGEN, followed by PCR and Sanger sequencing steps. Main results and the role of chance A total of 13 single nucleotide polymorphisms (SNPs) in the MT-CYB gene in each of the case and control groups were detected. Eight SNPs were non-synonymous variants including: rs2853508, rs28357685, rs41518645, rs2853507, rs28357376, rs35070048, rs2853506, and rs28660155 and five SNPs were synonymous variants: rs527236194, rs28357373, rs28357369, rs41504845, and rs2854124.Among these SNPs, three of them showed a significant difference in the genotype’s frequency test between sub-fertile and fertile groups: rs527236194 (T15784C; P = 0.0005), rs28357373 (T15629C; P = 0.0439), and rs41504845 (C15833T; P = 0.0038). For the allele’s frequency test, two SNPs were significant: rs527236194 (T15784C; P = 0.0014) and rs41504845 (C15833T; P = 0.0147). Limitations, reasons for caution The study population size Wider implications of the findings: A larger prospective study will be required to confirm the associations between these mitochondrial gene polymorphisms in MT-CYB (rs527236194, rs28357373, rs41504845) and male infertility and to clarify the definite effect of the mitochondrial genetic variations on male infertility. Trial registration number Not applicable

scholarly journals Association between CCN1 gene polymorphism and acute coronary syndrome in Chinese Han and Uygur populations

Hereditas ◽  
2021 ◽  
Vol 158 (1) ◽  
Author(s):  
Yan-Hong Li ◽  
Jun-Yi Luo ◽  
Bin-Bin Fang ◽  
Guo-Li Du ◽  
Ting Tian ◽  
...  
Keyword(s):  
Recessive Model ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Coronary Syndrome ◽  
Significant Difference ◽  
And Control ◽  
Control Study ◽  
Uygur Population

Abstract Background CCN1 plays a crucial role in the modulation of cardiovascular diseases. However, whether CCN1 genetic variants are involved in the susceptibility of ACS remains unknown. Hence, the present study investigates the association between CCN1 polymorphisms and ACS among Han and Uygur populations in Xinjiang, China. Results In this case-control study, 1234 Han (547 ACS patients and 687 controls) and 932 Uygur (471 ACS patients and 461 controls) were genotyped using SNPscanTM for three single-nucleotide polymorphisms (SNPs, rs6576776, rs954353, and rs3753794) of the human CCN1 gene. In the Uygur population, we found that the detected frequencies of the C allele (25.3% vs. 18.3%, P<0.001) and CC genotype (6.4% vs. 3.0%, P=0.001) of rs6576776 were significantly higher in the ACS patients than in the control participants. Differences in rs6576776 regarding the dominant model (CC+CG vs. GG, 44.2% vs. 55.8%, P=0.001) and the recessive model (CC vs. CG+GG, 6.4% vs. 93.6%, P=0.016) were observed between the two groups. The frequencies of the GGC and AGC haplotypes in those with ACS were significantly higher than those in the control group (all P<0.05) in the Uygur population. After adjusting for hypertension, diabetes, lipids and smoking, all of which indicate that the rs6576776 C allele is associated with higher risk of ACS (odds ratio (OR)=1.798, 95% confidence interval (CI), 1.218-2.656, P=0.003). In Han population, neither the distribution of genotypes and alleles of the CCN1 gene three SNPs nor the distribution of haplotypes constructed with the three SNPs exhibited a significant difference between the ACS patients and control participants. Conclusions Our study document that the CCN1 gene rs6576776 C allele is associated with higher susceptibility of ACS and that the frequencies of GGC and AGC haplotypes are higher among the Uygur ACS patients.

scholarly journals Association of miR-146a and miR196a2 genotype with susceptibility to idiopathic recurrent pregnancy loss in Iranian women: A case-control study

2021 ◽  
pp. 725-732
Author(s):  
Emad Babakhanzadeh ◽  
Hamid Danaei ◽  
Mohammad Abedinzadeh ◽  
Hamid Reza Ashrafzadeh ◽  
Nasrin Ghasemi
Keyword(s):  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Nucleotide Polymorphisms ◽  
Iranian Women ◽  
Control Groups ◽  
Normal Individuals ◽  
Significant Difference ◽  
History Of ◽  
And Control ◽  
Relationship Of

Background: Recurrent pregnancy loss (RPL) is the most common complaint of pregnancy in females with a prevalence of 5%. Numerous documents have shown that single nucleotide polymorphisms are able to change miRNA transcription and/or maturation, which may alter the incidence of disorders such as RPL. Objective: To assess the relationship of miR-146aC > G (rs2910164) and miR-196a2T > C (rs11614913) with RPL susceptibility in Iranian women. Materials and Methods: Blood samples were collected from 214 women who had experienced at least two consecutive spontaneous miscarriages (case) and 147 normal individuals without a history of miscarriage (control). MiR-146aC > G and miR-196a2T > C genotypes were evaluated via the restriction fragment length polymorphism technique. Results: The genotypes incidence did not show a significant difference in pre-miR-146aC > G polymorphism CC vs CG + GG (p = 0.854; OR = 0.933; 95% CI) and CC + CG vs GG (p = 0.282; OR = 1.454; 95% CI). Also, no significant difference was observed between pre-miR-196a2T > C polymorphism TT vs TC + CC (p = 0.862; OR = 0.938; 95% CI) and TT + TC vs CC and (p = 0.291; OR = 1.462; 95% CI) in both the case and control groups. Conclusion: The results showed that although the distribution of miR-146aC > G and miR-196a2T > C was different between the unknown RPL and control groups, these variances were not statistically significant. Key words: RPL, miR-146a, miR196a2, Polymorphism, RFLP.

Lack of association between catechol-Omethyltransferase and schizophrenia in a Turkish population

2015 ◽  
Vol 40 (3) ◽  
Author(s):  
Ceren Acar ◽  
Mustafa Mert Sözen ◽  
Harika Gözükara ◽  
Kübra Orman ◽  
Şükrü Kartalcı
Keyword(s):  
Turkish Population ◽  
Comt Gene ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Val158met Polymorphism ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
Hardy Weinberg Equilibrium ◽  
Strong Candidate ◽  
And Control

AbstractObjective: Catechol-O-methyltransferase (COMT) is the key molecule in the catabolism of catecholamines like dopamine which is an important molecule in schizophrenia. Due to its function and location COMT gene is a strong candidate gene for schizophrenia. The aim of this study was to investigate the possible associations of 3 COMT single nucleotide polymorphisms (SNPs) and schizophrenia in our population. COMT enzyme activity is regulated by a widely known Val158Met polymorphism (rs4680), along with the variation of the SNPs rs737865 and rs165599.Methods: Val158Met polymorphism (rs4680), the SNPs rs737865 and rs165599 were the targets of this study. The study was performed with 96 patients (66 male and 30 female) and 100 controls (47 male and 53 female) from Malatya region on eastern part of Turkey by using TaqMan genotyping assays.Results: We couldn’t find a significant difference between the schizophrenia patients and normal controls for any of the SNPs that were studied. The genotype frequencies in both the patient and control groups satisfied the Hardy- Weinberg equilibrium. No significant gender differences were observed for the SNPs that were investigated. No significant difference was observed in the allele or genotype frequencies as well.Conclusion: COMT gene doesn’t appear to be a risk factor in this population of schizophrenia patients in Turkey.

scholarly journals Association of Toll-Like Receptor Polymorphisms With Nasal Polyposis

2019 ◽  
Vol 100 (1) ◽  
pp. NP26-NP32
Author(s):  
Gülin Gökçen Kesici ◽  
Selda Kargın Kaytez ◽  
Talih Özdaş ◽  
Sibel Özdaş
Keyword(s):  
Logistic Model ◽  
Nasal Polyposis ◽  
Innate Immune ◽  
Nucleotide Polymorphisms ◽  
Toll Like Receptor ◽  
Single Nucleotide ◽  
Functional Studies ◽  
Significant Difference ◽  
And Control ◽  
Genotype And Allele Frequencies

Nasal polyposis is a disease characterized with chronic inflammation of the nasal mucosa. Toll-like receptors (TLRs) are defined as essential receptors of the innate immune system and may play in the development of nasal polyposis. A total of 71 patients with nasal polyposis and 74 healthy controls were included in this study. Three single-nucleotide polymorphisms (SNPs); TLR2 (2258 A>G), TLR4 (896 A>G), and TLR4 (1196 C>T) were analyzed in all patients. The degree of pair-wise linkage disequilibrium and the genotype and haplotype analyses were conducted using regression in this logistic model and the Multifactor Dimensionality Reduction (MDR) software package was used to construct all possible interactions among different genotype variants belonging to the TLR gene. There was significant difference in genotype and allele frequencies of the TLR4 (1196 C>T) polymorphism between the nasal polyposis and control groups (0.017). Also, it was observed that the probability of nasal polyposis was 62.7% in the presence of TLR4 (1196 C>T) polymorphism with asthma ( P = .007). As a conclusion, this study showed that TLR4 and TLR2 polymorphisms were predisposing factors for nasal polyposis. Further functional studies investigating the consequences of loss of TLR function are needed.

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