Association of C677T transition of the human methylenetetrahydrofolate reductase (MTHFR) gene with male infertility

2016 ◽  
Vol 28 (6) ◽  
pp. 785 ◽  
Author(s):  
Mohammad Karimian ◽  
Abasalt Hosseinzadeh Colagar
Keyword(s):  
Male Infertility ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr Gene ◽  
Chromosome 1 ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Mthfr Genotype ◽  
Polymerase Chain ◽  
677T Allele ◽  
Control Study

The human methylenetetrahydrofolate reductase (MTHFR) gene encodes one of the key enzymes in folate metabolism. This gene is located on chromosome 1 (1p36.3), which has 12 exons. The aim of the present study was to investigate the possible association of the two (C677T and A1298C) polymorphisms of this gene with male infertility. In a case-control study, 250 blood samples were collected from IVF centres in Sari and Babol (Iran): 118 samples were from oligospermic men and 132 were from controls. Two single nucleotide polymorphisms of the MTHFR genotype were detected using polymerase chain reaction–restriction fragment length polymorphism. There was no association found between the A1298C variant and male infertility. However, carriers of the 677T allele (CT and TT genotypes) were at a higher risk of infertility than individuals with other genotypes (odds ratio 1.84; 95% confidence interval 1.11–3.04; P = 0.0174). Structural analysis of human MTHFR flavoprotein showed that C677T transition played an important role in the change in affinity of the MTHFR–Flavin adenine dinucleotide binding site. Based on our results, we suggest that C677T transition in MTHFR may increase the risk of male infertility, and detection of the C677T polymorphism biomarker may be helpful in the screening of idiopathic male infertility.

scholarly journals Role of Kisspeptin Gene Polymorphism in Idiopathic Male Infertility in Iraq

2021 ◽  
pp. 3428-3435
Author(s):  
Firas Kareem Al-Kalabi ◽  
Adnan F Al-Azzawie ◽  
Estabraq AR. Al-Wasiti
Keyword(s):  
Male Infertility ◽  
Semen Quality ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Idiopathic Male Infertility ◽  
Polymerase Chain ◽  
Infertile Group ◽  
Control Study

     This case control study aimed to determine single nucleotide polymorphisms (SNPs) in the Kisspeptin (KISS1) gene in males with idiopathic infertility and their association with sex hormones and semen quality. The study included a total of 60 infertile and 30 healthy fertile males. Our results show that the level of the measured hormones (LH, FSH, Testosterone, Prolactin and Kisspeptin-54) were higher in the control group than in the male infertile group at p<0.05. We used polymerase chain reaction restriction fragment length polymorphism (PCR-RELP) for the genotyping of KISS1 position rs35431622 (Q36R) KISS1, which showed three different genotypes of different sizes; a wild-type homozygous AA of 233 bp and a heterozygous AG that has digestion products of 233, 161, and 72 bp. The AG was more frequent in the patients group which also had high OR value of G allele (3.105). While for the rs4889 (C/G(, there was a correlation between the CC genotype and the patients group, but it was non-significant. Patients had an OR value of 2.5 for the CC genotype with 95% CI: 0.21 – 29.26, whereas the OR value for the C allele was 1.14 with 95% CI: 0.613 – 2.135. In conclusion, variations in SNPs of the KISS1 gene may be considered as a risk factor for idiopathic male infertility in Iraqi population.

scholarly journals Impact of Genetic Variation in TLR4 3′UTR on NSCLC Genetic Susceptibility

2020 ◽  
Vol 2020 ◽  
pp. 1-7 ◽  
Author(s):  
Hongjiao Wu ◽  
Hui Gao ◽  
Ang Li ◽  
Yuning Xie ◽  
Zhenxian Jia ◽  
...  
Keyword(s):  
Genetic Susceptibility ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Lung Cancer Patients ◽  
Pathological Type ◽  
Gender And Age ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Affect Gene Expression ◽  
Control Study

Toll-like receptors (TLRs) are expressed not only in immune cells but also in a variety of tumor cells. Single-nucleotide polymorphisms (SNPs) located in the TLRs’ promoter or the 3′ untranslated region may affect gene expression by affecting the activity of the promoter or regulating the binding of mRNA to miRNA. This study aimed to investigate the association of the SNPs in TLR genes with the susceptibility to NSCLC. This case-control study involved 700 lung cancer patients and 700 healthy controls. All individuals were genotyped for all selected SNPs in TLR genes using polymerase chain reaction (PCR) test-based restriction fragment length polymorphism (PCR-RFLP) and TaqMan SNP genotyping assay. The association of genetic variations in TLRs with the susceptibility to NSCLC was evaluated by unconditional logistic regression with OR (95% CI). After evaluating transcriptional factor or miRNA binding capability by bioinformatics methods, six TLRs were identified for further analysis. We did not find that TLR3 rs5743303, TLR4 rs1927914, TLR4 rs11536891, TLR5 rs1640816, and TLR7 rs3853839 were associated with NSCLC risk (P>0.05). Our data showed that TLR4 rs7869402 C > T polymorphism reduced the risk of NSCLC with OR (95% CI) of 0.63 (0.45–0.89). When stratified by gender and age, the individuals carrying at least one rs7869402T allele significantly decreased the NSCLC risk among males (OR = 0.58, 95% CI = 0.38–0.87) and among youngsters (OR = 0.43, 95% CI = 0.27–0.69). Smoking stratification analysis showed that the rs7869402T allele-containing genotype reduced the risk of NSCLC with OR (95% CI) of 0.50 (0.29–0.87) among smokers but not among nonsmokers (P>0.05). When the individuals were classed by the pathological type, we found that the rs7869402T-containing genotype was associated with the risk of adenocarcinoma (OR = 0.62, 95% CI = 0.41–0.92) but not with that of squamous cell carcinoma (OR = 0.71, 95% CI = 0.44–1.13) and other types (OR = 0.23, 95% CI = 0.03–1.70). Compared with the TLR4 Ars1927914-Crs7869402-Trs11536891 haplotype, the Grs1927914-Trs7869402-Trs11536891 haplotype was associated with a decreased risk for developing NSCLC with OR (95% CI) of 0.57 (0.41–0.80). These results indicated that the TLR4 rs7869402 variation affects the genetic susceptibility to NSCLC.

scholarly journals Single-Nucleotide Polymorphisms in XPO5 are Associated with Noise-Induced Hearing Loss in a Chinese Population

2020 ◽  
Vol 2020 ◽  
pp. 1-10 ◽  
Author(s):  
Ning Wang ◽  
Boshen Wang ◽  
Jiadi Guo ◽  
Suhao Zhang ◽  
Lei Han ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Chinese Population ◽  
Luciferase Reporter ◽  
Noise Induced Hearing Loss ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Control Study ◽  
Dual Luciferase Reporter Assay

Objectives.The purpose of this study was to investigate the correlation between single-nucleotide polymorphism (SNP) in 3′UTR of XPO5 gene and the occurrence of noise-induced hearing loss (NIHL), and to further explore the regulatory mechanism of miRNAs in NIHL on XPO5 gene. Methods.We conducted a case-control study involving 1040 cases and 1060 controls. The effects of SNPs on XPO5 expression were studied by genotyping, real-time polymerase chain reaction (qPCR), cell transfection, and the dual-luciferase reporter assay. Results.We genotyped four SNPs (rs2257082, rs11077, rs7755135, and rs1106841) in the XPO5 gene. The rs2257082 AG/GG carriers have special connection to an increased risk of noise-induced hearing loss compared to the AA carriers. The rs11077TG/GG carriers had a significantly increased association with NIHL susceptibility than the TT carriers. There was a higher risk of NIHL in the XPO5 gene rs7755135 CC carriers than in the TT carriers. No statistically significant correlation was obtained with respect to SNPrs1106841. Functional experiments showed that the rs11077 change might inhibit the interaction between miRNAs (miRNA-4763-5p, miRNA-5002-3p, and miRNA-617) and XPO5, with rs11077G allele resulting in overexpression of XPO5. Conclusion. The genetic polymorphism, rs11077, within XPO5 is associated with the risk of noise-induced hearing loss in a Chinese population.

scholarly journals Association of DEAR1 Tagging Single Nucleotide Polymorphisms With Breast Cancer in a Sample of Colombian Population: A Case Control Study

2020 ◽  
Vol 14 ◽  
pp. 117822342090493
Author(s):  
Angela P Beltrán ◽  
Edgar Benitez ◽  
Martin Rondon ◽  
Yeimy V Ariza ◽  
Fabio A Aristizabal ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Logistic Regression ◽  
Single Nucleotide Polymorphisms ◽  
Case Control Study ◽  
Conditional Logistic Regression ◽  
Case Control ◽  
Chromosome 1 ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Control Study

Purpose: Ubiquitin ligase genes can act as oncogenes or tumor suppressor genes. They play a role in various diseases, including development and progression of breast cancer; the objective of this study was to evaluate the association of common variants in the ductal-epithelium-associated RING chromosome 1 ( DEAR1) gene with breast cancer risk in a sample of Colombian population. Methods: We carried out a case-control study to investigate associations of variants in DEAR1 with breast cancer in women from Colombia. Single nucleotide polymorphisms (SNPs) rs584298, rs2927970, rs59983645, and rs599167 were genotyped in 1022 breast cancer cases and 1023 healthy controls using the iPLEX® and Kompetitive Allele Specific PCR (polymerase chain reaction) (KASP) method. The associations between SNPs and breast cancer were examined by conditional logistic regression. The associations between SNPs and epidemiological/histopathological variables were examined by multinomial logistic regression. Results: Associations were found between tag SNPs and breast cancer adjusted for the epidemiological risk factors rs584298 genotypes AG and GG ( P = .048 and P = .004, respectively). The analysis of the disease characteristics showed that SNP rs584298 (genotype AG) ( P = .015) shows association with progesterone receptor (PR) status and (genotype AA) ( P = .048) shows association with human epidermal growth factor receptor 2 (HER2) status. Conclusions: The SNP rs584298 in DEAR1 showed associations with breast cancer and the expression of HER2 receptor; when this receptor is amplified, the result is aggressive tumoral subtype and expression of PR receptor that is associated with high-proliferative tumor grade. Validation of this SNP is important to establish whether this variant or the tagged variant is the cause for the risk association showed.

Involvement of MTHFR and TPMT genes in susceptibility to childhood acute lymphoblastic leukemia (ALL) in Mexicans

2016 ◽  
Vol 31 (1) ◽  
Author(s):  
Ossyneidee Gutiérrez-Álvarez ◽  
Ismael Lares-Asseff ◽  
Carlos Galaviz-Hernández ◽  
Elio-Aarón Reyes-Espinoza ◽  
Horacio Almanza-Reyes ◽  
...  
Keyword(s):  
Essential Role ◽  
Case Control Study ◽  
Lymphoblastic Leukemia ◽  
Case Control ◽  
Nucleotide Polymorphisms ◽  
Chain Reaction ◽  
Single Nucleotide ◽  
Genes Encoding ◽  
Polymerase Chain ◽  
Control Study

AbstractFolate metabolism plays an essential role in the processes of DNA synthesis and methylation. Deviations in the folate flux resulting from single-nucleotide polymorphisms in genes encoding folate-dependent enzymes may affect the susceptibility to leukemia. This case-control study aimed to assess associations amongDNA samples obtained from 70 children with ALL and 152 age-matched controls (range, 1–15 years) were analyzed by real-time reverse transcription polymerase chain reaction (RT-qPCR) to detect: The frequency of the: The

Genetic polymorphisms of Cathepsin B are associated with gastric cancer risk and prognosis in a Chinese population

2021 ◽  
pp. 1-10
Author(s):  
Xiang Ma ◽  
Younan Wang ◽  
Hao Fan ◽  
Chuming Zhu ◽  
Wangwang Chen ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Genetic Polymorphisms ◽  
Cathepsin B ◽  
Case Control Study ◽  
Nucleotide Polymorphisms ◽  
Sequencing Technology ◽  
Single Nucleotide ◽  
Polymerase Chain ◽  
Control Study

BACKGROUND: Genetic polymorphisms are believed to represent a key aspect of predisposition to gastric cancer (GC). Therefore, considering the important role of Cathepsin B (CTSB) in promoting cancer onset and development, it could be very worthful to explore the function of CTSB-related genetic polymorphisms in GC. OBJECTIVE: In this study, we investigated the correlation of CTSB-related polymorphisms (rs9009A>T, rs6731T>C, rs1293303G>C, rs1874547C>T, rs3779659C>T, rs17814426C>T and rs148669985C>T) with GC risk and prognosis in a case-control study of 994 cases and 1000 controls. METHODS: All tag single nucleotide polymorphisms (SNPs) were genotyped by polymerase chain reaction-ligase detection reaction (PCR-LDR) sequencing technology. RESULTS: The results indicated rs9009, rs6731 and rs17814426 correlated with decreased risks of GC (HR = 0.97, p< 0.001; HR = 0.86, P= 0.019; HR = 0.85, P= 0.017; respectively). Stratification analysis further showed rs17814426 variant genotypes correlated with earlier T stage (p= 0.044). In addition, GC patients carrying the C allele of rs6371 had better overall prognosis (HR = 0.62, 95%CI = 0.44–0.88). CONCLUSION: Our results firstly suggested the importance of CTSB-related polymorphisms on GC which could predict GC risk and prognosis.

scholarly journals Methylenetetrahydrofolate Reductase C677T Polymorphism and Risk of Colorectal Cancer in the Macedonian Population

2008 ◽  
Vol 11 (2) ◽  
pp. 17-24 ◽  
Author(s):  
N Matevska ◽  
T Josifovski ◽  
A Kapedanovska ◽  
Z Sterjev ◽  
Z Serafimoska ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Methylenetetrahydrofolate Reductase ◽  
Case Control Study ◽  
Age Of Onset ◽  
Case Control ◽  
Mthfr Gene ◽  
Inverse Association ◽  
C677t Polymorphism ◽  
677T Allele ◽  
Control Study

Methylenetetrahydrofolate Reductase C677T Polymorphism and Risk of Colorectal Cancer in the Macedonian PopulationMethylenetetrahydrofolate reductase (MTHFR) regulates the flow of folate groups between DNA synthesis and DNA methylation. A common C677T substitution (Ala222Val) in exon 4 of the MTHFR gene has been linked with the risk of colorectal cancer (CRC). To assess this risk in the Macedonian population, we conducted a case-control study of 413 randomly selected CRC patients and 185 controls without a clinical diagnosis of CRC. We found a statistically significant inverse association between the MTHFR T allele (35.35% for the patients and 41.35% for the controls) and the CRC risk [odds ratio (OR) 0.776; 95% confidence interval (95% CI) 0.603-0.997;p= 0.047). The prevalence of the MTHFR T allele is lower in patients with advanced CRC (Duke' s stage C and D) and with microsatellite instable tumors (MSI+), indicating the inverse association with the CRC aggressiveness and MSI status. This effect seems to be independent of gender, age of onset and localization. We concluded that the MTHFR 677T allele is more likely to have a protective effect on CRC development and progression in the Macedonian population.

Association ofARTS1Gene Polymorphisms with Ankylosing Spondylitis in the Hungarian Population: The rs27044 Variant Is Associated with HLA-B*2705 Subtype in Hungarian Patients with Ankylosing Spondylitis

2009 ◽  
Vol 37 (2) ◽  
pp. 379-384 ◽  
Author(s):  
BORBÁLA PAZÁR ◽  
ENIKO SÁFRÁNY ◽  
PÉTER GERGELY ◽  
SÁNDOR SZÁNTÓ ◽  
ZOLTÁN SZEKANECZ ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Minor Allele ◽  
Nucleotide Polymorphisms ◽  
Hla B27 ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Predominant Subtype ◽  
Hungarian Population ◽  
Polymerase Chain ◽  
Control Study

Objective.Associations have been found between ankylosing spondylitis (AS) and polymorphisms in the aminopeptidase regulator of TNFR1 shedding (ARTS1) gene. We studied the association of 5 polymorphisms within theARTS1gene with AS in Hungarian patients. We also investigated the prevalence of HLA-B27 subtypes in the Hungarian population.Methods.A case-control study including 297 patients with AS and 200 sex and ethnically matched healthy controls was performed. Patients and controls were genotyped for rs27044, rs17482078, rs10050860, rs30187, and rs2287987 single-nucleotide polymorphisms using real-time polymerase chain reaction (PCR) allelic discrimination. HLA-B27 subtypes were determined with PCR sequence-specific primer (PCR-SSP) technique.Results.We observed a significant increase in the minor allele frequency of rs27044 (p = 0.001) in the AS group compared to controls. The minor allele frequencies of rs10050860 (p = 0.006) and rs2287987 (p = 0.002) showed a significant decrease in AS patients compared to controls. Haplotype analysis revealed association of 2 ARTS1 haplotypes with AS in the Hungarian population. We found that HLA-B*2705 was the predominant subtype in Hungarians with AS. Carriage of the G allele of rs27044 was significantly associated with the HLA-B*2705 subtype (p = 0.009) in AS patients.Conclusion.We confirmed reported associations ofARTS1gene polymorphisms with AS in a Hungarian cohort study. We found HLA-B*2705 as the predominant subtype in Hungarian AS patients in accord with other studies on Caucasian populations. Our results suggest that theARTS1gene variants together with HLA-B27 strongly contribute to disease susceptibility in patients with AS.

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