Associations of PYGO2 and PRDM9 Genes Single Nucleotide Polymorphisms with Idiopathic Azoospermia in Iranian Population

Abstract Background One cause of infertility is azoospermia which affects about 1% of men in the general population. Non-obstructive azoospermia can be due to genetic disorders. Pygo2 and PRDM9 are two genes involved in spermatogenesis process. The aim of this study was to assess two single nucleotide polymorphism (SNPs) rs61758740, rs61758741 and rs2973631, rs1874165 in these genes respectively. Methods In this case-control study, a total of 100 Iranian patients with idiopathic azoospermia and 100 fertile control subjects were genotyped for Pygo2 rs61758740 and rs61758741 and PRDM9 rs2973631 polymorphism using Tetra-ARMS PCR. PRDM9 rs1874165 polymorphism was assessed by PCR-RFLP method. LH, FSH and testosterone concentrations were measured with electrochemical luminescence (ECL) method. Results Our data indicated a significant increase only in the FSH and LH hormone levels of patients which suggest that the cause of azoospermia is not pre-testicular. rs61758740 (T>C) polymorphism in Pygo2 gene was associated with increased risk of azoospermia (OR, 2.359; 95% Cl (1.192 – 4.666); p= 0.012). Also based on dominant model analysis in rs2973631 of PRDM9 gene, we identified a significant gene frequency difference between cases and control in dominant, recessive and codominant models but dominant, codominant and overdominant models was confirmed for rs1874165. Conclusion Our findings provide evidence for an association between Pygo2 and RDM9 genetic variation and idiophatic azoospermia in Iranian populations. Therefore, SNPs of these genes can be cosidered as a risk factor for male infertility.

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Phosphodiesterase 4D gene polymorphism is associated with ischaemic and haemorrhagic stroke

Clinical Science ◽

10.1042/cs20080162 ◽

2009 ◽

Vol 116 (4) ◽

pp. 335-340 ◽

Cited By ~ 25

Author(s):

Hao Xue ◽

Hu Wang ◽

Xiaodong Song ◽

Weiju Li ◽

Kai Sun ◽

...

Keyword(s):

Chinese Population ◽

Haemorrhagic Stroke ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Gene Variation ◽

Icelandic Population ◽

Increased Risk ◽

Pcr Rflp ◽

Phosphodiesterase 4D ◽

Control Study

It has been reported that the variants of the PDE4D (phosphodiesterase 4D) gene are associated with stroke, especially with the combination of cardio-embolic and carotid stroke in the Icelandic population, but it is still very controversial as to whether PDE4D is a susceptible gene for stroke in other populations. In the present study, we tested whether the PDE4D gene variation also confers stroke risk in a Chinese population. Our hypothesis was tested in a case-control study of a Chinese population comprising 639 stroke patients (including 253 with cerebral thrombosis, 171 with lacunar infarction and 215 with intracerebral haemorrhage) and 887 healthy controls. Three SNPs (single nucleotide polymorphisms) (rs966221, rs456009 and rs2910829) in PDE4D were chosen based on the significant association with stroke reported previously in a Western population, and these were genotyped using PCR/RFLP (restriction-fragment-length polymorphism) and confirmed by sequencing. We found that only SNP83 (rs966221) was associated with stroke. Allele C of rs966221 is a risk allele, conferring an increased risk for atherothrombotic strokes [OR (odds ratio), 1.51; 95% CI (confidence interval), 1.09–2.10] independent of conventional risk factors. Haplotype analysis confirmed that haplotype G-C-C was associated with increased risk for atherothrombotic stroke (OR, 1.80; 95% CI, 1.300–2.491). Our findings support that SNP83 of PDE4D is a genetic risk factor for atherothrombotic strokes in a Chinese population.

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RAD51 and XRCC3 Polymorphisms Are Associated with Increased Risk of Prostate Cancer

Journal of Oncology ◽

10.1155/2019/2976373 ◽

2019 ◽

Vol 2019 ◽

pp. 1-8 ◽

Cited By ~ 3

Author(s):

Maria Nowacka-Zawisza ◽

Agata Raszkiewicz ◽

Tomasz Kwasiborski ◽

Ewa Forma ◽

Magdalena Bryś ◽

...

Keyword(s):

Prostate Cancer ◽

Dna Repair ◽

Strand Break ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Dna Double Strand Break ◽

Repair Efficiency ◽

Increased Risk ◽

Pcr Rflp ◽

Repair Genes

Genetic polymorphisms in DNA repair genes may affect DNA repair efficiency and may contribute to the risk of developing cancer. The aim of our study was to investigate single nucleotide polymorphisms (SNPs) in RAD51 (rs2619679, rs2928140, and rs5030789) and XRCC3 (rs1799796) involved in DNA double-strand break repair and their relationship to prostate cancer. The study group included 99 men diagnosed with prostate cancer and 205 cancer-free controls. SNP genotyping was performed using the PCR-RFLP method. A significant association was detected between RAD51 rs5030789 polymorphism and XRCC3 rs1799796 polymorphism and an increased risk of prostate cancer. Our results indicate that RAD51 and XRCC3 polymorphism may contribute to prostate cancer.

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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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Relationship between the IL23R SNPs and Crohn’s Disease Susceptibility and Phenotype in the Polish and Bosnian Populations: A Case-Control Study

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph16091551 ◽

2019 ◽

Vol 16 (9) ◽

pp. 1551

Author(s):

Krzysztof Borecki ◽

Iwona Zawada ◽

Nermin Nusret Salkić ◽

Beata Karakiewicz ◽

Grażyna Adler

Keyword(s):

Crohn’S Disease ◽

Crohn's Disease ◽

Case Control Study ◽

Age Of Onset ◽

Severe Disease ◽

Polish Population ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Increased Risk ◽

Control Study

It is suggested that IL-23/IL-17 axis and single nucleotide polymorphisms (SNPs) of IL23R may have crucial role in pathogenesis of Crohn’s disease (CD). Thus, we sought to assess the IL23R SNPs contribution to susceptibility and phenotype of CD. We recruited 117 CD subjects and 117 controls from Poland and 30 CD subjects and 30 controls from Bosnia and Herzegovina (B&H). Two common IL23R SNPs: rs1004819, rs7517847 were genotyped using TaqMan SNP assays. In the Polish population it was found that allele rs1004819: A increases the risk of CD, while allele rs7517847: A is protective against disease development. In Poles the co-carriage of two IL23R risk genotypes was associated with increased risk of CD. A significantly increased risk of CD early onset was observed in Poles carrying at least one rs7517847: G allele. It was also found that IL23R SNPs may be associated with structuring/penetrating CD behavior, as alleles rs1004819: A and rs7517847: G were significantly less frequent in patients without complications, from Poland and B&H, respectively. Allele rs1004819: A was also significantly more frequent in Poles with penetrating CD. These results confirm IL23R SNPs contribution to CD susceptibility in the Polish population and suggest their impact on early age of onset and more severe disease course.

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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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Polymorphisms of ABCG2 and SLC22A12 Genes Associated with Gout Risk in Vietnamese Population

Medicina ◽

10.3390/medicina55010008 ◽

2019 ◽

Vol 55 (1) ◽

pp. 8 ◽

Cited By ~ 2

Author(s):

Nguyen Thuy Duong ◽

Nguyen Thy Ngoc ◽

Nguyen Tran Minh Thang ◽

Bach Thi Hoai Phuong ◽

Nguyen Thanh Nga ◽

...

Keyword(s):

Uric Acid ◽

Serum Uric Acid ◽

Nucleotide Polymorphisms ◽

Ethnic Populations ◽

Increased Risk ◽

Significant Difference ◽

Pcr Rflp ◽

Vietnamese Population ◽

Hardy Weinberg Equilibrium ◽

And Control

Background and objective: Gout is a common form of inflammatory arthritis caused by the crystallization of uric acid. Previous studies have demonstrated that the genetic predisposition of gout varies in different ethnic populations. However the association study of genetic variants with gout remains unknown in the Vietnamese population. Our study aimed to assess the relationship between polymorphisms in ABCG2 and SLC22A12 and gout susceptibility in Vietnamese. Materials and methods: Genomic DNA was extracted from blood of a total of 170 patients with gout and 351 healthy controls. We genotyped single nucleotide polymorphisms (SNPs): rs72552713, rs12505410 of the ABCG2 gene and rs11231825, rs7932775 of the SLC22A12 gene using polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) and then confirmed 10% of randomly selected subjects by Sanger sequencing. Results: Three SNPs (rs72552713 and rs12505410 and rs11231825) were in accordance with Hardy–Weinberg Equilibrium (HWE) (p > 0.05) while rs7932775 was not (p < 0.05). For rs72552713, CT genotype was significantly different between gout patient and control groups (p < 0.001) and the T allele was associated with an increased risk of gout (OR = 21.19; 95% CI: 3.00–918.96; p < 0.001). Serum uric acid and hyperuricemia differed significantly between CC and CT genotype groups (p = 0.004 and 0.008, respectively). For rs11231825, a protective effect against gout risk was identified in the presence of the C allele when compared with the T allele (OR = 0.712; 95% CI: 0.526–0.964 p = 0.0302). In contrast, no significant difference of allele frequencies between gout patients and controls was detected for rs12505410 (p > 0.05). However, significant differences in serum uric acid and systolic blood pressure were obtained among gout patients. Conclusion: Our results suggest that ABCG2 rs72552713 and SLC22A12 rs11231825 are likely associated with gout in the Vietnamese population in which T allele may be a risk factor for gout susceptibility.

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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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Genetic Variations of Cytokines and Cytokine Receptors in Psoriasis Patients from China

International Journal of Genomics ◽

10.1155/2014/870597 ◽

2014 ◽

Vol 2014 ◽

pp. 1-5 ◽

Cited By ~ 6

Author(s):

Xiao-Lan Li ◽

Chun-Feng Wu ◽

Gui-Sheng Wu

Keyword(s):

Protective Factor ◽

Chinese Patients ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Control Subjects ◽

Genetic Patterns ◽

Il12b Gene ◽

Genetic And Environmental Factors ◽

And Control ◽

Control Study

Psoriasis is a chronic inflammatory and hyperproliferative skin disease affected by both genetic and environmental factors. The aim of the present study was to investigate polymorphisms in a candidate gene family of interleukin (IL) in unrelated Chinese patients with psoriasis and control subjects without psoriasis. In this case-control study, 200 unrelated Chinese psoriasis patients and 298 age- and sex-matched control subjects were enrolled. Genomic DNA was prepared from peripheral blood obtained from all psoriasis patients and control subjects. We genotyped seven single-nucleotide polymorphisms (SNPs) in candidate genes of six ILs: IL4, IL10, IL12B, IL13, IL15, and IL23R, which have been shown in the literature to be associated with psoriasis in other ethnic groups. Among the seven SNPs in the six IL genes studied, only the rs3212227 in the IL12B gene was found to be associated with psoriasis at genotypic level in the studied population. The C/C genotype in the IL12B gene is a protective factor of psoriasis (P = 0.0218; OR = 0.51; 95% CI: 0.27–0.96) in Chinese. Furthermore, the studied Chinese population has extremely low minor allele frequency for IL23R. Together, the data reveal unique genetic patterns in Chinese that may be in part responsible for the lower risk for psoriasis in this population.

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Association of Interleukin-8 with Cachexia from Patients with Low-Third Gastric Cancer

Comparative and Functional Genomics ◽

10.1155/2009/212345 ◽

2009 ◽

Vol 2009 ◽

pp. 1-6 ◽

Cited By ~ 13

Author(s):

Bo Song ◽

Dianliang Zhang ◽

Shuchun Wang ◽

Hongmei Zheng ◽

Xinxiang Wang

Keyword(s):

Gastric Cancer ◽

Cancer Cachexia ◽

Haplotype Analysis ◽

Positive Association ◽

Serum Levels ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Increased Risk ◽

Pcr Rflp ◽

Polymerase Chain

Background. Interleukin (IL)-8 has been implicated in the development of cancer cachexia. The polymorphism of IL-8 gene, which may affect the production level of IL-8, may be associated with cancer cachexia.Methods. The serum IL-8 level in our study was examined by radioimmunoassay. We also analyzed single nucleotide polymorphisms (SNPs) −251 A/T and +781 C/T of IL-8 gene, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).Results. The serum levels of IL-8 were significantly elevated in patients with low-third gastric cancer compared with controls, and were further up-regulated in patients with cachexia than those without (Z=−3.134,P=.002). A significantly increased frequency of +781 T allele was noted in patients with cachexia (OR=2.247, 95% CI: 1.351–3.737,P=.002). The +781 TT genotype was observed to be associated with a significantly increased risk of cachexia (OR=3.167, 95% CI: 1.265–7.929,P=.011), and with odds ratio of 3.033 (95% CI: 1.065–8.639,P=.038) for cachexia after adjusting for potential confounding factors. Meanwhile, haplotype analysis indicated a borderline positive association betweenT251T781haplotype and cachexia as compared with theT251C781haplotype (OR=4.92, 95% CI: 1.00–24.28;,P=.053).Conclusions. IL-8 appears to be associated with cachexia from patients with low-third gastric cancer.

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An Association between Single Nucleotide Polymorphisms of Lys751GlnERCC2Gene and Ovarian Cancer in Polish Women

Advances in Medicine ◽

10.1155/2015/109593 ◽

2015 ◽

Vol 2015 ◽

pp. 1-6 ◽

Cited By ~ 6

Author(s):

Magdalena M. Michalska ◽

Dariusz Samulak ◽

Hanna Romanowicz ◽

Maciej Sobkowski ◽

Beata Smolarz

Keyword(s):

Ovarian Cancer ◽

Gene Polymorphism ◽

Fragment Length Polymorphism ◽

Nucleotide Polymorphisms ◽

Histological Grading ◽

Single Nucleotide ◽

Increased Risk ◽

Pcr Rflp ◽

Lys751gln Polymorphism

Aim.The aim of this study was to evaluate the role of the Lys751Gln (rs13181)ERCC2gene polymorphism in clinical parameters and the risk for development of ovarian cancer.Material and Methods.The study consisted of 430 patients with ovarian cancer (mean age: 53.2 ± 10.11) and 430 healthy subjects (mean age: 50.31 ± 18.21). Analysis of the gene polymorphisms was performed using the PCR-based restriction fragment length polymorphism (PCR-RFLP). The odds ratios (ORs) and 95% confidence intervals (CIs) for each genotype and allele were calculated.Results.The results obtained indicate that the genotype Gln/Gln is associated with an increased risk of ovarian cancer (OR 5.01; 95% CI 3.37–7.43;p<0.0001). Association of Lys751Gln polymorphism with histological grading showed increasedERCC2Gln/Gln (OR = 6.96; 95% CI 3.41–14.21;p<0.0001) genotype in grading 1 as well as Gln allele overrepresentation (OR = 4.98; 95% CI 3.37–7.40;p<0.0001) in G1 ovarian patients. Finally, with clinical FIGO staging under evaluation, an increase inERCC2Gln/Gln homozygote frequencies in staging I and Gln allele frequencies in SI were observed.Conclusion.On the basis of these results, we conclude thatERCC2gene polymorphism Lys751Gln may be associated with an increased risk of ovarian carcinoma.

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