COL1A1, COL4A3, TIMP2 and TGFB1 polymorphisms in cervical insufficiency

Abstract Objectives To investigate the association between selected single nucleotide polymorphisms (SNPs) with cervical insufficiency and its relationship with obstetric history. Methods Twenty-eight women with cervical insufficiency (case group) and 29 non-pregnant women (control group) were included. The SNPs sequenced included rs2586490 in COL1A1, rs1882435 in COL4A3, rs2277698 in TIMP2, and rs1800468 in TGFB1. Results We found a higher frequency of the normal allele in the control group (65.5%) and the homozygous mutated genotype in the case group (64.3%) for rs2586490 in COL1A1 (p=0.023). An unplanned finding in the cervical insufficiency group was a higher gestational age of delivery (median≥38 weeks) in the mutated allele than in the wild-type genotype (median of 28.2 weeks) for rs2857396, which is also in the COL1A1 gene (p=0.011). Conclusions The findings of the present study corroborate the hypothesis that cervical insufficiency has a genetic component and probably involves genes encoding proteins in the extracellular matrix, in addition to inflammatory processes.

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Association of single-nucleotide polymorphisms in the ESR2 and FSHR genes with poor ovarian response in infertile Jordanian women

Clinical and Experimental Reproductive Medicine ◽

10.5653/cerm.2020.03706 ◽

2021 ◽

Vol 48 (1) ◽

pp. 69-79

Author(s):

Amer Mahmoud Sindiani ◽

Osamah Batiha ◽

Esra’a Al-zoubi ◽

Sara Khadrawi ◽

Ghadeer Alsoukhni ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Statistical Significance ◽

Ovarian Response ◽

Control Group ◽

P Value ◽

Case Group ◽

Nucleotide Polymorphisms ◽

Poor Ovarian Response ◽

Single Nucleotide ◽

Number Of Patients

Objective: Poor ovarian response (POR) refers to a subnormal follicular response that leads to a decrease in the quality and quantity of the eggs retrieved after ovarian stimulation during assisted reproductive treatment (ART). The present study investigated the associations of multiple variants of the estrogen receptor 2 (ESR2) and follicle-stimulating hormone receptor (FSHR) genes with POR in infertile Jordanian women undergoing ART.Methods: Four polymorphisms, namely ESR2 rs1256049, ESR2 rs4986938, FSHR rs6165, and FSHR rs6166, were investigated in 60 infertile Jordanian women undergoing ART (the case group) and 60 age-matched fertile women (the control group), with a mean age of 33.60±6.34 years. Single-nucleotide polymorphisms (SNPs) were detected by restriction fragment length polymorphism and then validated using Sanger sequencing.Results: The p-value of the difference between the case and control groups regarding FSHR rs6166 was very close to 0.05 (p=0.054). However, no significant differences were observed between the two groups in terms of the other three SNPs, namely ESR2 rs1256049, ESR2 rs4986938, and FSHR rs6165 (p=0.561, p=0.433, and p=0.696, respectively).Conclusion: The association between FSHR rs6166 and POR was not statistically meaningful in the present study, but the near-significant result of this experiment suggests that statistical significance might be found in a future study with a larger number of patients.

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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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Polymorphisms in the SP110 and TNF-α Gene and Susceptibility to Pulmonary and Spinal Tuberculosis among Southern Chinese Population

Disease Markers ◽

10.1155/2017/4590235 ◽

2017 ◽

Vol 2017 ◽

pp. 1-8 ◽

Cited By ~ 3

Author(s):

Ying Zhou ◽

Chun-yan Tan ◽

Zhi-jiang Mo ◽

Qi-le Gao ◽

Dan He ◽

...

Keyword(s):

Protective Factor ◽

Southern China ◽

Spinal Tuberculosis ◽

Control Group ◽

Case Group ◽

Nucleotide Polymorphisms ◽

Healthy Individuals ◽

Single Nucleotide ◽

Southern Chinese ◽

Tnf Α

Objective. To investigate the association of single-nucleotide polymorphisms (SNPs) in SP110 gene and TNF-α gene among pulmonary TB (PTB) and spinal TB (STB) patients. Methods. In a total of 190 PTB patients, 183 STB patients were enrolled as the case group and 362 healthy individuals at the same geographical region as the control group. The SP110 SNPs (rs722555 and rs1135791) and the promoter -308G>A (rs1800629) and -238G>A (rs361525) polymorphisms in TNF-α were genotyped. Results. TNF-α -238G>A polymorphism was involved in susceptibility to STB, but not to PTB. The TNF-α -238 A allele was a protective factor against STB (A versus G: OR [95% CI] = 0.331 [0.113–0.972], P=0.044). Furthermore, the presence of the -238 A allele was considered a trend to decrease the risk of STB (AG versus GG: P=0.062, OR [95% CI] = 0.352 [0.118–1.053]; AA + AG versus GG: P=0.050, OR [95CI%] = 0.335 [0.113–0.999]). However, SP110 SNPs (rs722555 and rs1135791) and TNF-α -308G>A (rs1800629) showed no association with PTB and STB in all genetic models. Conclusion. The TNF-α -238 A allele appeared a protective effect against STB, whereas the SP110 SNPs (rs722555 and rs1135791) and TNF-α -308G>A (rs1800629) showed no association with susceptibility to PTB and STB patients in southern China.

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Single nucleotide polymorphism rs1799794 in XRCC3 gene on breast cancer patients

Ministry of Science and Technology, Vietnam ◽

10.31276/vjst.63(2).05-09 ◽

2021 ◽

Vol 62 (2) ◽

pp. 5-9

Author(s):

Thi Thu Thao Nguyen ◽

◽

Thu Thuy Nguyen ◽

Vu Viet Ha Vuong ◽

Huy Thinh Tran ◽

...

Keyword(s):

Breast Cancer ◽

Disease Onset ◽

Strand Break ◽

Control Group ◽

Case Group ◽

Protective Effects ◽

Nucleotide Polymorphisms ◽

Breast Cancer Patients ◽

Single Nucleotide ◽

Xrcc3 Gene

The single nucleotide polymorphisms of the XRCC3 gene including rs1799794 affect the DNA double-strand break/repair. Therefore, it plays a critical part in the initiation of carcinogenesis. This study aimed to investigate the distribution of rs1799794 and the association between rs1799794 and breast cancer risk. The study was performed in 208 Vietnamese females suffering from breast cancer and 208 age-matched normal healthy controls. DNA was extracted from whole blood whilst genotyping was conducted using PCR-RFLP. The results show that the frequency of the A and G allele in the case group are 0.575 and 0.425, in the control group are 0.548 and 0.452. The frequency of AA, AG, GG genotype in the case group are 34.6, 45.7, and 19.7%; in the control group are 33.2, 43.3, and 23.5%. AG genotype of rs1799794 associated with disease onset early of breast cancer, increasing the risk of breast cancer among those who were 45 years old and younger. The GG genotype has protective effects and reduces the risk of breast cancer in the age group ≤45 years.

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CD44, IL-33, and ST2 Gene Polymorphisms on Hepatocellular Carcinoma Susceptibility in the Chinese Population

BioMed Research International ◽

10.1155/2020/2918517 ◽

2020 ◽

Vol 2020 ◽

pp. 1-11

Author(s):

Xiaolan Pan ◽

Meiqin Li ◽

Lei Huang ◽

Dan Mo ◽

Yihua Liang ◽

...

Keyword(s):

Hepatocellular Carcinoma ◽

Single Nucleotide Polymorphisms ◽

Chinese Population ◽

Haplotype Analysis ◽

Control Group ◽

Case Group ◽

Nucleotide Polymorphisms ◽

Cancer Stemness ◽

Single Nucleotide ◽

The Relationship

The interleukin- (IL-) 33/ST2 axis plays a pivotal role in tumorigenesis through influencing cancer stemness and other mechanisms. CD44 is one of the critical markers of hepatocellular carcinoma (HCC) among the cancer stem cells (CSCs). There is still a lack of CD44 gene single-nucleotide polymorphisms (SNPs) combined with IL-33/ST2 pathway single-nucleotide polymorphisms in HCC susceptibility analysis literature, although CD44 and IL-33/ST2 have been reported separately in human cancers. This study is aimed at investigating the relationship between CD44, IL-33, and ST2 SNPs and HCC susceptibility and clinicopathological features. We analyzed 565 HCC patients and 561 healthy controls in the Chinese population. The genes for CD44rs187115A>G, IL-33 rs1929992A>G, and ST2 rs3821204G>C were typed using the SNaPshot method. We found that the distribution frequencies of CD44 and ST2 alleles and genotypes in both the HCC case group and the control group were statistically significant ( p < 0.05 ). The results showed that individuals carrying at least one G allele of the CD44 rs187115 gene were at a higher risk than the AA genotype carriers ( p = 0.007 , odds ratio OR = 1.429 , 95% confidence interval (CI): 1.102–1.854). Similarly, individuals with at least one C allele of ST2 rs3821204 had a higher risk of HCC than those with GG genes ( p ≤ 0.001 , OR = 1.647 , 95% CI: 1.296-2.093). Combining the haplotype analysis of the 3 loci suggested that CD44 rs187115, IL-33 rs1929992, and ST2 rs3821204 are associated with the risk of HCC and could potentially serve as useful genetic markers for HCC in some populations of China.

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Interaction of Arg194Trp and Arg399Gln genotypes with the risk of radiation on cancer patients

Biodiversitas Journal of Biological Diversity ◽

10.13057/biodiv/d200805 ◽

2019 ◽

Vol 20 (8) ◽

Cited By ~ 1

Author(s):

HARRY NUGROHO EKO SURNIYANTORO ◽

NASTITI RAHAJENG ◽

YANTI LUSIYANTI ◽

TUR RAHARDJO ◽

DYAH ERAWATI ◽

...

Keyword(s):

Dna Damage ◽

Cancer Patients ◽

Control Group ◽

Case Group ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Mutant Genotype ◽

Polymerase Chain ◽

Micronuclei Assay

Abstract. Surniyantoro HNE, Rahajeng N, Lusiyanti Y, Rahardjo T, Erawati D, Choridah L, Dhamiyati W, Dwidanarti SR. 2019. Interaction of Arg194Trp and Arg399Gln genotypes with the risk of radiation on cancer patients. Biodiversitas 20: 2128-2133. Two of the common single-nucleotide polymorphisms are X-ray repair cross-complementary group 1 on exon 6 (Arg194Trp) and exon 10 (Arg399Gln). The purpose of this study was to determine the interactions between Arg194Trp and Arg399Gln genotypes combination with the risk of radiation on cancer patients in Indonesia, linked to micronuclei frequency as a biomarker of DNA damage. This study consisted of 19 patients with various cancer as the case group and 37 non-cancer participants as the control group. The determination of Arg149Trp and Arg399Gln alleles were performed using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism. Micronuclei assay was performed using Cytokinesis-block micronuclei cytome assay. The results of our study showed that micronuclei frequency was very significantly higher in the cancer patients compared to controls (111.16 ± 76.24 versus 16.89 ± 9.72, p<0.0001). Patients with heterozygous mutant genotypes CT had a lower frequency of micronuclei than patients with normal CC genotypes (105.6 ± 80.97 versus 117.33 ± 74.97). Likewise, patients with mutant genotype AA had a lower frequency of micronuclei than patients with normal GG genotype (64 versus 129.71 ± 90.68). The genetic polymorphisms of Arg194Trp and Arg399Gln demonstrated an association with the level of DNA damage on cancer patients.

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Correlations between ACE single nucleotide polymorphisms and prognosis of patients with septic shock

Bioscience Reports ◽

10.1042/bsr20170145 ◽

2017 ◽

Vol 37 (2) ◽

Cited By ~ 3

Author(s):

Xin-Man Dou ◽

Hui-Juan Cheng ◽

Ling Meng ◽

Lin-Lin Zhou ◽

Yi-Hong Ke ◽

...

Keyword(s):

Septic Shock ◽

Single Nucleotide Polymorphisms ◽

Survival Curve ◽

Control Group ◽

Case Group ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Kaplan Meier ◽

Genotype Frequencies ◽

Ace Activity

The aim of the present study is to investigate association between septic shock (SS) and angiotensin I-converting enzyme (ACE) single nucleotide polymorphisms (SNPs). From October 2009 to December 2016, 238 SS patients and 242 healthy individuals were selected for our study. ACE activity was detected, ACE rs4291 and rs4646994 polymorphisms were detected using PCR-restriction fragment length polymorphism (PCR-RFLP). The Kaplan–Meier survival curve was employed to evaluate the association between ACE SNPs and patients’ survival and univariate and multivariate analyses to estimate risk factors for SS. ACE activity in the case group was increased in comparison with the control group. Allele and genotype frequencies of rs4291 and rs4646994 were different between the case and control groups. The TT genotype frequency of the rs4291 polymorphisms and the DD genotype of the rs4646994 polymorphisms of the case group were higher than those in the control group. The AT and TT genotypes indicated a significant elevation of ACE activity than the AA genotype, while a significant decline was found in the DI and II genotypes in comparison with the DI genotype. Patients with TT or DD genotypes had increased fatality rate within 7 and 30 days when compared with those with non-TT or non-DD genotypes. Lower sepsis-related organ failure assessment (SOFA) scores, rs4291, serum ACE and rs4646994 were all considered as risky factors for SS patients. The study demonstrates that TT genotype of rs4291 or DD genotype of rs4646994 may be indicative of a higher risk of SS and a poorer prognosis in SS patients.

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Genetic association study between TAB2 polymorphisms and noise-induced-hearing-loss in a Han Chinese population

PLoS ONE ◽

10.1371/journal.pone.0251090 ◽

2021 ◽

Vol 16 (5) ◽

pp. e0251090

Author(s):

Guangzhi Yang ◽

Boshen Wang ◽

Dawei Sun ◽

Huimin Wang ◽

Mengyao Chen ◽

...

Keyword(s):

Hearing Loss ◽

Association Study ◽

Genetic Association ◽

Genetic Association Study ◽

Control Group ◽

Case Group ◽

Noise Induced Hearing Loss ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Healthy Control

Noise-induced-hearing-loss(NIHL) is a common occupational disease caused by various environmental and biological factors. To investigate the association between TAB2 and the susceptibility of NIHL of people exposed to occupational environments, a genetic association study was performed on selected companies with 588 cases and 537 healthy control subjects. Five selected single nucleotide polymorphisms (SNPs) in TAB2,incoluding rs2744434, rs521845, rs652921, rs7896, rs9485372, were genotyped after a collection of DNA samples. Evident differences in participants between the case group and the control group reveals the result that people with the TAB2 has a high probability of getting NIHL. The results show that rs521845 is deeply associated with the risk of NIHL and is available for the diagnosis in the future.

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The association of the IL-1β-31 polymorphism and the development of neuroinfections

Journal of Medical Science ◽

10.20883/156 ◽

2016 ◽

Vol 85 (4) ◽

pp. 289

Author(s):

Grażyna Biesiada ◽

Jacek Czepiel ◽

Anna Piątek ◽

Malwina Birczyńska ◽

Justyna Żurańska ◽

...

Keyword(s):

Inflammatory Response ◽

Viral Meningitis ◽

Control Group ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Tnf Α ◽

Significant Difference ◽

Laboratory Results ◽

Genes Encoding ◽

Wbc Count

Introduction. Inflammation of the meninges can have various clinical courses, from mild, self‑limiting in some viral neuroinfections to severe, sometimes ending in death. The pro‑inflammatory cascade and defects in the inhibitors of the inflammatory response play an important prognostic role. Single nucleotide polymorphisms (SNPs) of the genes encoding cytokines, influence the severity of the inflammatory response.Aim. The aim of this study was to evaluate the effect of selected polymorphisms of proinflammatory cytokines IL-1β, TNF‑α and IL-8 on the development of neuroinfections.Material and Methods. We evaluated the laboratory results of 30 patients treated for bacterial and viral meningitis and compared those to 30 healthy volunteers. The following 4 variants were analyzed for occurrence of genetic polymorphism in patients with meningitis versus the control group: IL-1β 3953, IL-1β -31, TNF‑α -308, and IL-8 781. Then, we assessed the association between these genetic polymorphisms and the inflammatory response during the course of meningitis.Results and Conclusions. We observed that polymorphism of the IL-1β-31 significantly differs between patients and healthy subjects, the IL-1β -31AA polymorphism existed only in healthy individuals (p < 0.001). The WBC count was dependent on the TNF‑α -308 polymorphism with a statistically significant difference (p = 0.021) occurring among persons with variants AA and AG. In conclusion the study showed that the presence of the AA genotype of IL-1β-31polymorphism may have a protective effect on the development of meningitis. This polymorphism was not observed in any patient with meningitis.

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