Role of Kisspeptin Gene Polymorphism in Idiopathic Male Infertility in Iraq

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.

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

Cancer Biomarkers ◽

10.3233/cbm-203208 ◽

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.

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Molecular Investigation of Association Among Common IL-6 Polymorphism with Cytomegalovirus(CMV) Infection and Recurrent Miscarriage in Iranian Women

10.21203/rs.3.rs-1147984/v1 ◽

2021 ◽

Author(s):

Parisa Pourroostaei Ardakani ◽

Bahareh Rahimi ◽

Mohammad Panahi ◽

Babak Karimian ◽

Hamzeh Rahimi

Keyword(s):

Recurrent Miscarriage ◽

Control Group ◽

Nucleotide Polymorphisms ◽

Iranian Women ◽

Cmv Infection ◽

Single Nucleotide ◽

Host Genetic ◽

Control Study ◽

Healthy Females

Abstract Background: Recurrent pregnancy loss (RPL) is described as two or more spontaneous abortions. Until now, although various factors such as genetic, endocrinology, anatomy, immunology, and microbiology have been distinguished that affect abortions, the precise basic etiology in up to 50% of RPL cases are not determined. Human cytomegalovirus (CMV) infection and host genetic background, like IL-6 SNP polymorphisms play important roles in RPL etiology. Objective: This study aimed to evaluate relationship among single nucleotide polymorphisms (-634C/G and -174 G/C) in the IL-6 gene with CMV infection and risk of RPL for early detection and treatment of RPL. Materials and methods: This case-control study was carried on 80 Iranian females with RPL and 80 healthy females as control group. The extraction of DNA from samples and detection of CMV and IL6 SNPs were determined by Tetra ARMS-PCR. Finally, the statistical analysis for detection CMV and two polymorphisms roles in RPL were analyzed by Epi Info TM software by X2 test. Results: Our results indicated an increased rate of CMV infection in RPL group (44%) versus the control group (25.45%). Also, the prevalence of IL-6 -634C/G genotype among RPL patients with CMV infection was 80%, while the frequency of this genotype among RPL patients without CMV infection was 50%. Furthermore, no substantial relation was found between IL-6 -174 G/C genotypes and RPL (P ≤0.0001). BesidesConclusion: This study not only indicated a significant role of CMV in RPL, but also showed CMV association with allele G in IL6 -634 among Iranian women. In addition, suggested the use of CMV and IL-6 -634 GG genotypes in RPL as diagnostic and prognostic biomarkers in Iranian population.

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

Reproduction Fertility and Development ◽

10.1071/rd14186 ◽

2016 ◽

Vol 28 (6) ◽

pp. 785 ◽

Cited By ~ 22

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.

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

Bioscience Reports ◽

10.1042/bsr20180586 ◽

2018 ◽

Vol 38 (6) ◽

Cited By ~ 2

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.

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Single nucleotide polymorphism of bone morphogenetic protein 4 gene: A risk factor of non-syndromic cleft lip with or without palate

Indian Journal of Plastic Surgery ◽

10.4103/0970-0358.163053 ◽

2015 ◽

Vol 48 (02) ◽

pp. 159-164 ◽

Cited By ~ 5

Author(s):

Sathyaprasad Savitha ◽

S. M. Sharma ◽

Shetty Veena ◽

R. Rekha

Keyword(s):

Bone Morphogenetic Protein ◽

Cleft Lip ◽

Paediatric Population ◽

Single Nucleotide ◽

Morphogenetic Protein ◽

Increased Risk ◽

Polymerase Chain ◽

Bmp Signalling ◽

Control Study

ABSTRACT Background: The bone morphogenetic protein (BMP) signalling pathway is crucial in a number of developmental processes and is critical in the formation of variety of craniofacial elements including cranial neural crest, facial primordium, tooth, lip and palate. It is an important mediator in regulation of lip and palate fusion, cartilage and bone formation. Aim: To study the role of mutation of BMP4 genes in the aetiology of non-syndromic cleft lip with or without palate (NSCL ± P) and identify it directly from human analyses. Materials and Methods: A case-control study was done to evaluate whether BMP4T538C polymorphism, resulting in an amino acid change of Val=Ala (V152A) in the polypeptide, is associated with NSCL ± P in an Indian paediatric population. Genotypes of 100 patients with NSCL ± P and 100 controls (in whom absence of CL ± P was confirmed in three generations) were detected using a polymerase chain reaction-restriction fragment length polymorphism strategy. Logistic regression was performed to evaluate allele and genotype association with NSCLP. Results: Results showed significant association between homozygous CC genotype with CL ± P (odds ratio [OR]-5.59 and 95% confidence interval [CI] = 2.85-10.99). The 538C allele carriers showed an increased risk of NSCL ± P as compared with 538 T allele (OR - 4.2% CI = 2.75-6.41). Conclusion: This study suggests an association between SNP of BMP4 gene among carriers of the C allele and increased risk for NSCLP in an Indian Population. Further studies on this aspect can scale large heights in preventive strategies for NSCLP that may soon become a reality.

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

Journal of Oncology ◽

10.1155/2020/7593143 ◽

2020 ◽

Vol 2020 ◽

pp. 1-7 ◽

Cited By ~ 1

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.

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

Biochemistry Research International ◽

10.1155/2020/9589310 ◽

2020 ◽

Vol 2020 ◽

pp. 1-10 ◽

Cited By ~ 1

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.

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Genetic variants in CYP4F2 were significantly correlated with susceptibility to ischemic stroke

BMC Medical Genetics ◽

10.1186/s12881-019-0888-6 ◽

2019 ◽

Vol 20 (1) ◽

Author(s):

Yuan Wu ◽

Junjie Zhao ◽

Yonglin Zhao ◽

Tingqin Huang ◽

Xudong Ma ◽

...

Keyword(s):

Ischemic Stroke ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Single Nucleotide ◽

Increased Risk ◽

Chi Squared ◽

Cytochrome P450 Family ◽

Stratified Analysis ◽

Control Study

Abstract Background Ischemic stroke (IS) is a serious cardiovascular disease and is associated with several single nucleotide polymorphisms (SNPs). However, the role of Cytochrome P450 family 4 subfamily F member 2 (CYP4F2) gene in IS remains unknown. Our study aimed to explore whether CYP4F2 polymorphisms influenced IS risk in the Han Chinese population. Methods We selected 477 patients and 495 controls to do a case-control study, and five SNPs in CYP4F2 gene were successfully genotyped. And we evaluated the associations using the Chi-squared test, independent sample t test, and genetic models analyses. Logistic regression analysis was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs). Results In this study, rs12459936 and rs3093144 were associated with IS risk in the overall. After stratified analysis by age (> 61 years), rs3093193 and rs3093144 were related to an increased risk of IS, whereas rs12459936 was related to a decreased risk of IS. In addition, we found that three SNPs (rs3093193, rs3093144 and rs12459936) were associated with the susceptibility to IS in males. We also found five SNPs in the CYP4F2 gene had strong linkage. Conclusions Three SNPs (rs3093193, rs3093144 and rs12459936) in the CYP4F2 were associated with IS risk in a Chinese Han population. And, CYP4F2 gene may be involved in the development of IS.

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

Drug Metabolism and Personalized Therapy ◽

10.1515/dmpt-2015-0036 ◽

2016 ◽

Vol 31 (1) ◽

Cited By ~ 6

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

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Is the association between insulin resistance and diabetogenic haematopoietically expressed homeobox (HHEX) polymorphism (rs1111875) affected by polycystic ovary syndrome status?

Reproduction Fertility and Development ◽

10.1071/rd15157 ◽

2017 ◽

Vol 29 (4) ◽

pp. 670 ◽

Cited By ~ 2

Author(s):

F. Ramezani Tehrani ◽

M. Zarkesh ◽

M. Tohidi ◽

F. Azizi ◽

A. Zadeh-Vakili

Keyword(s):

Insulin Resistance ◽

Polycystic Ovary Syndrome ◽

Polycystic Ovary ◽

Control Group ◽

Model Assessment ◽

Nucleotide Polymorphisms ◽

Ovary Syndrome ◽

Single Nucleotide ◽

Polymerase Chain ◽

Study Participants

Polycystic ovary syndrome (PCOS) is frequently accompanied by insulin resistance (IR). The aim of the present study was to investigate whether the genetic association between insulin resistance and two single nucleotide polymorphisms (SNPs), namely rs7903146 (C/T) in transcription factor 7-like 2 (TCF7L2) and rs1111875 (A/G) in haematopoietically expressed homeobox (HHEX), is affected by PCOS status in Iranian women. The study participants consisted of 582 women with PCOS (cases) referred to the Reproductive Endocrinology Research Center and 504 subjects without PCOS (controls), randomly selected from the Tehran Lipid and Glucose Study. Cases and controls were further subdivided to two groups according to IR status: those with and without IR. IR was identified on the basis of homeostasis model assessment of insulin resistance (HOMA-IR) ≥2.63. The SNPs in TCF7L2 and HHEX were genotyped by polymerase chain reaction–restriction fragment length polymorphism. There were no significant differences in the distribution of genotypes and alleles between cases and controls (P < 0.05). Among cases, the prevalence of the CC, CT and TT genotypes was 37.8%, 46.3% and 15.9%, respectively, whereas the prevalence of the AA, AG and GG genotypes was 13.5%, 46.1% and 40.4%, respectively. In the control group, the prevalence of the CC, CT and TT genotypes was 32.2%, 53.9% and 13.9%, respectively, whereas the prevalence of the AA, AG and GG genotypes was 11.3%, 48.6% and 40.0%, respectively. After adjustment for age and body mass index, the probability of IR was decreased by 49% among carriers of the A allele in the control group (95% confidence interval 0.33–0.78; P = 0.002). The findings of the present study suggest that the association between IR and diabetogenic polymorphisms may be affected by PCOS status.

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