The Significance of VDR Genetic Polymorphisms in the Etiology of Preeclampsia in Pregnant Polish Women

For the first time in the Polish population, we aimed to investigate associations between the VDR gene single-nucleotide polymorphisms (SNPs) BsmI (rs15444410), ApaI (rs7975232), FokI (rs19735810), and TaqI (rs731236) and the development of preeclampsia (PE). A case–control study surveyed 122 preeclamptic and 184 normotensive pregnant women. The polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) method was performed to examine the maternal VDR FokI, BsmI, TaqI, and ApaI polymorphisms. The VDR BsmIAA homozygous genotype was statistically significantly more frequent in preeclamptic women compared to the control group (p = 0.0263), which was also associated with a 2-fold increased risk of PE (OR = 2.06, p = 0.012). A correlation between the VDR BsmI polymorphism with systolic and diastolic blood hypertension was noted. Furthermore, 3-marker haplotype CTA (TaqI/ApaI/BsmI) was associated with significantly higher systolic (p = 0.0075) and diastolic (p = 0.0072) blood pressure. Association and haplotype analysis indicated that the VDR BsmI A allele could play a significant role in the PE pathomechanism and hence could be a risk factor for PE development in pregnant Polish women. These results indicate the importance of the VDR BsmI polymorphism and reveal that this variant is closely associated with a higher predisposition to hypertension.

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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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Correlation between miRNA target site polymorphisms in the 3′ UTR of AVPR1A and the risk of hypertension in the Chinese Han population

Bioscience Reports ◽

10.1042/bsr20182232 ◽

2019 ◽

Vol 39 (5) ◽

Cited By ~ 1

Author(s):

Liuping Zhang ◽

Jinwei Liu ◽

Peng Cheng ◽

Fangchao Lv

Keyword(s):

Single Nucleotide Polymorphisms ◽

Mirna Target ◽

Direct Sequencing ◽

Chinese Han Population ◽

Control Group ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Single Nucleotide ◽

Han Population ◽

Increased Risk

Abstract We aimed to study the relationship between rs11174811 and rs3803107 single nucleotide polymorphisms (SNPs) in miRNA target sites of the 3′ UTR in the arginine vasopressin receptor 1a gene (AVPR1A) and the risk of hypertension in the Chinese Han population. The genotypes at rs11174811 and rs3803107 were analyzed by direct sequencing in 425 Chinese Han patients with hypertension and 425 healthy subjects. AVPR1A expression was investigated by transfecting miR-526b, miR-375, and miR-186 mimics into human umbilical vein endothelial cells (HUVECs) containing AVPR1A rs11174811 CC, CA/AA and AVPR1A rs3803107 GG, GA/AA genotypes. The A alleles of rs11174811 (adjusted OR = 1.424, 95% CI: 1.231–1.599, P<0.001) and rs3803107 (adjusted OR = 1.222, 95% CI: 1.092–1.355; P=0.001) were high risk factors for hypertension. Plasma levels of miR-526b, miR-375, and miR-186 were higher in the study group than in the control group (P<0.001). The expression levels of AVPR1A mRNA in AVPR1A rs11174811 and rs3803107 mutant HUVECs were higher than those in wild-type cells (t = 8.811, 4.068 and P=0.001, 0.015, respectively). The single nucleotide polymorphisms rs11174811 and rs3803107 in the AVPR1A gene are associated with an increased risk of hypertension in the Chinese Han population. This may be related to the effect of these variants on the regulation of AVPR1A expression by miRNAs.

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Association of single nucleotide polymorphisms in CACNA 1A/CACNA 1C/CACNA 1H calcium channel genes with diabetic peripheral neuropathy in Chinese population

Bioscience Reports ◽

10.1042/bsr20171670 ◽

2018 ◽

Vol 38 (3) ◽

Cited By ~ 1

Author(s):

Lin Sun ◽

Jun Ma ◽

Qian Mao ◽

Yun-Long Yang ◽

Lin-Lin Ma ◽

...

Keyword(s):

Peripheral Neuropathy ◽

Single Nucleotide Polymorphisms ◽

Calcium Channel ◽

Diabetic Peripheral Neuropathy ◽

Chinese Population ◽

Control Group ◽

Case Group ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Pcr Rflp

The present study was conducted to explore the correlations between single nucleotide polymorphisms (SNPs) in the calcium channel CACNA 1A, CACNA 1C, and CACNA 1H genes and diabetic peripheral neuropathy (DPN) amongst the Chinese population. In total, 281 patients diagnosed with type 2 diabetes participated in the present study. These patients were divided into the case group, which was subdivided into the DPN (143 cases) and the non-DPN groups (138 cases). Subsequently, 180 healthy individuals that had undergone routine health examinations were also recruited and assigned to the control group. PCR-restriction fragment length polymorphism (PCR-RFLP) was used to detect the genotype and allele frequencies of CACNA 1A, CACNA 1C, and CACNA 1H genes; logistic regression analysis to investigate the association of gene polymorphisms with DNP. Gene–gene interactions were then detected by generalized multifactor dimensionality reduction (GMDR). The results revealed that CACNA 1A rs2248069 and rsl6030, CACNA 1C rs216008 and rs2239050, and CACNA 1H rs3794619, and rs7191246 SNPs were all associated with DPN, while rs2248069, rsl6030, rs2239050, and rs7191246 polymorphisms were attributed to the susceptibility to DPN. It was also observed that the optimal models were three-, four- and five-dimensional models with a prediction accuracy of 61.05% and the greatest consistency of cross-validation was 10/10. In summary, these findings demonstrated that the SNPs in the CACNA 1A, CACNA 1C, and CACNA 1H genes were involved in the pathophysiology of DPN. In addition, polymorphisms in the CACNA 1A, CACNA 1C, and CACNA 1H genes and their interactions also had effects on DPN.

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Single Nucleotide Polymorphisms inP2X7Gene Are Associated with Serum Immunoglobulin G Responses toMycobacterium tuberculosisin Tuberculosis Patients

Disease Markers ◽

10.1155/2015/671272 ◽

2015 ◽

Vol 2015 ◽

pp. 1-7 ◽

Cited By ~ 11

Author(s):

Jiangdong Wu ◽

Lijun Lu ◽

Le Zhang ◽

Yulei Ding ◽

Fang Wu ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Immunoglobulin G ◽

Serum Immunoglobulin ◽

Control Group ◽

Case Group ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Mutant Genotype ◽

Pcr Rflp ◽

Positive Rate

Objective. Our study investigated the association between single nucleotide polymorphisms (SNPs) in P2X7 gene and serum immunoglobulin G (IgG) responses to mycobacterium tuberculosis (MTB) in TB patients.Methods. A total of 103 TB patients were enrolled as case group and 87 healthy individuals at same geographical region as control group. The SNP detection of 1513A>C and -762T>C was performed using PCR-RFLP, and the levels of serum IgG responses to MTB in all subjects were determined.Results. AC and CC of 1513A>C and TC and CC of -762T>C had higher frequencies in case group than in control group. TB patients carrying TC and CC of -762T>C had higher positive rate of IgG responses to MTB than those carrying TT. Additionally, patients carrying TC and CC of -762T>C had more MTB in sputum than those carrying TT.Conclusion. P2X7 SNPs, 1513A>C and -762T>C, may be associated with the susceptibility to tuberculosis, and -762T>C SNP may contribute to the development of MTB. The mutant genotype of -762T>C (TC and CC) may lower human capability of phagocytosis to MTB, leading to an increased morbidity of TB.

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Polymorphism of the IL13 gene may be associated with Uterine leiomyomas in Slovenian women

Balkan Journal of Medical Genetics ◽

10.1515/bjmg-2016-0036 ◽

2016 ◽

Vol 19 (2) ◽

pp. 51-60 ◽

Cited By ~ 1

Author(s):

J Krsteski ◽

S Jurgec ◽

M Pakiž ◽

I But ◽

U Potočnik

Keyword(s):

Tumor Biology ◽

Serum Levels ◽

Uterine Leiomyomas ◽

Nucleotide Polymorphisms ◽

First Sexual Intercourse ◽

Pelvic Tumors ◽

Increased Risk ◽

Pcr Rflp ◽

History Of ◽

First Time

AbstractUterine leiomyomas (ULM) are a common cause of solid pelvic tumors in women. Their etiopathogenesis remains unclear. Interleukins (ILs) and their receptors can influence tumor biology of ULM. The aim of this study was to evaluate single nucleotide polymorphisms (SNPs) exhibited in the genes IL4 (rs2070874), IL4R (rs1801275), IL12RB1 (rs11575934), IL12B (rs6887695), IL13 (rs20541) and IL23R (rs7517847) as risk factors for ULM in Slovenian women and to identify associations between corresponding clinical parameters and the analyzed SNPs. In addition, solitary and multiple ULM were compared to identify clinical and/or genetic parameters influencing their occurrence. We conducted a case-control study that included 181 women with leiomyomas and 133 control subjects. Genotyping of selected SNPs was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and high resolution melting (HRM) techniques. The TT genotype of rs20541 (IL13) was significantly associated with decreased risk of ULM compared to both the CC and CT genotypes [p = 0.018; odds ratio (OR) = 0.184; 95% confidence interval (95% CI) = 0.048-0.7121. Using genetic and clinical data to develop a predictive model with logistic regression, we found that adenomyosis, higher age at diagnosis, family history of ULM occurrence, earlier menarche, lower number of pregnancies and lower age at first sexual intercourse, the G allele and genotypes AG and GG of rs1801275 (IL4R) were associated with an increased risk of multiple ULM occurrence. We also found an association between rs20541 (IL13) and 17ß-estradiol serum levels in patients with multiple ULM (p 0.003). Our study showed, for the first time, that rs20541 (IL13) may contribute to susceptibility of ULM development and that rs1801275 (IL4R) can predispose patients to develop multiple ULM.

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How many single-nucleotide polymorphisms (SNPs) must be tested in order to prove susceptibility to bacterial meningitis in children? Analysis of 11 SNPs in seven genes involved in the immune response and their effect on the susceptibility to bacterial meningitis in children

Innate Immunity ◽

10.1177/1753425918762038 ◽

2018 ◽

Vol 24 (3) ◽

pp. 163-170 ◽

Cited By ~ 3

Author(s):

Ewelina Gowin ◽

Bogna Świątek-Kościelna ◽

Ewelina Kałużna ◽

Ewa Strauss ◽

Jacek Wysocki ◽

...

Keyword(s):

Immune Response ◽

Single Nucleotide Polymorphisms ◽

Bacterial Meningitis ◽

Pneumococcal Meningitis ◽

Cumulative Effect ◽

Control Group ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Increased Risk ◽

Meningitis In Children

The aim of this study is to describe the prevalence of single single-nucleotide polymorphisms (SNPs) as well as their combinations in genes encoding proteins involved in the immune response in children with bacterial meningitis. The prospective study group consisted of 39 children with bacterial meningitis and 49 family members surveyed between 2012 and 2016. Eleven SNPs in seven genes involved in immune response were analysed. The mean number of minor frequency alleles (MAF) of studied SNPs was lowest in the control group and highest in patients with pneumococcal meningitis. We found that carrying ≥6 MAF of studied SNPs was associated with an increased risk of pneumococcal meningitis. The prevalence of risky variants was noted to be higher in patients with pneumococcal meningitis as compared to the control group. In conclusion, genetic factors are a relevant factor in determining the susceptibility to bacterial meningitis. A statistically significant cumulative effect of mutated variants on increasing the risk of bacterial meningitis was detected. Combining all three SNPs in MBL2 improves the prediction of susceptibility to pneumococcal meningitis. Analysis of risky alleles can help indicate people prone to the disease who are ‘gene-immunocompromised’.

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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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Vitamin D Receptor (VDR) Gene Polymorphism in Patients Diagnosed with Colorectal Cancer

Nutrients ◽

10.3390/nu13010200 ◽

2021 ◽

Vol 13 (1) ◽

pp. 200

Author(s):

Maria Latacz ◽

Dominika Rozmus ◽

Ewa Fiedorowicz ◽

Jadwiga Snarska ◽

Beata Jarmołowska ◽

...

Keyword(s):

Colorectal Cancer ◽

Vitamin D ◽

Environmental Factors ◽

Gene Polymorphism ◽

Vitamin D Receptor ◽

Nucleotide Polymorphisms ◽

Vdr Gene ◽

Single Nucleotide ◽

Pcr Rflp ◽

Vdr Polymorphisms

Colorectal cancer (CRC) is one of the most commonly occurring neoplasias in humans. The prevalence of CRC rates is still rising. Although the exact background of the disease still remains unknown, it is believed that CRC may not only be a result of environmental factors, but also genetic ones. One of the mechanisms underlying CRC might be the vitamin D pathway, as CRC is the most closely linked neoplasia to vitamin D deficiency. This study shows a possible association of the vitamin D receptor (VDR) polymorphisms FokI, BsmI, ApaI, and TaqI with CRC susceptibility. A total of 103 patients diagnosed with CRC (61 men and 42 women, aged 57–82 years) and 109 healthy people (50 men and 59 women, aged 47–68 years) were genotyped using PCR-RFLP for FokI, BsmI, ApaI, and TaqI. None of the single nucleotide polymorphisms (SNPs) individually increased or decreased the risk of CRC. The evaluation of haplotypes revealed two that might enhance the likelihood of CRC development: taB (OR = 30.22; 95% CI 2.81–325.31; p = 0.01) and tAb (OR = 3.84; 95% CI 1.29–11.38; p = 0.01). In conclusion, genotyping is an easy and robust procedure that needs to be performed only once in a lifetime. A creation of a relevant SNP’s panel might contribute to the identification of the groups that are at the greatest risk of CRC.

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Single-nucleotide polymorphisms of the ATM gene, which form a predisposition to breast and ovarian cancer in a population sample of the Chechen Republic

Nauchno-prakticheskii zhurnal «Medicinskaia genetika» ◽

10.25557/2073-7998.2020.06.36-37 ◽

2020 ◽

pp. 36-37

Author(s):

З.И. Бисултанова ◽

П.М. Джамбетова

Keyword(s):

Breast Cancer ◽

Ovarian Cancer ◽

Population Sample ◽

Control Group ◽

Nucleotide Polymorphisms ◽

Breast And Ovarian Cancer ◽

Allele Polymorphism ◽

Single Nucleotide ◽

Increased Risk ◽

Atm Gene

Были изучены два критических полиморфизма гена ATM, (rs664143 (A>G) и rs189037 (G> A) в выборке из 214 пациентов с раком молочной железы (РМЖ) и раком яичников (РЯ) и 389 женщин контрольной группы (≤45 лет), относящихся к чеченской популяции. Генотипирование выполнено методом ПЦР-анализа. Анализ сопряженности аллельных вариантов гена ATM c риском развития РМЖ и РЯ показал повышенный риск развития РЯ в случае носительства аллеля G полиморфизма rs189037, однако с РМЖ достоверных ассоциаций не выявлено. Two critical polymorphisms of the ATM gene, (rs664143 (A> G) and rs189037 (G> A), were studied in a sample of 214 patients with breast cancer and ovarian cancer and 389 women in the control group (≤45 years old) belonging to the Chechen population. An analysis of the conjugation of allelic variants of the ATM gene with a risk of developing breast and ovarian cancer showed an increased risk of developing ovarian cancer in case of carriage of the G allele polymorphism rs189037, but no reliable associations were found with breast cancer).

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