Uterine perfusion in patients with MMP2 gene polymorphisms

Aim. To investigate the effect of allelic polymorphisms of the MMP2 gene on uterine perfusion in patients planning pregnancy. Materials and methods. 95 women planning pregnancy were examined. The patients underwent clinical and laboratory examination, analysis of single nucleotide polymorphisms rs2285052 and rs243865 of the MMP2 gene, ultrasound examination on days 1825 of the menstrual cycle with an assessment of the pulsatility index of blood flow of the uterine vessels and a qualitative assessment of endometrial and subendometrial perfusion. Depending on the genotype, the patients were divided into 3 groups: first with haplotype rs2285052(A)rs243865(T), second with haplotype rs2285052(A)rs243865(С), and a third control group with rs2285052(С/С)rs243865(С/С) genotype. Results. Decreased perfusion in the subendometrial zone was found in 40.6, 44.4 and 19.4% of patients in the 1, 2 and 3 groups, respectively; decreased perfusion of endometrium in 68.8, 55.6 and 36.1% of patients in the 1, 2 and 3 groups, respectively. Spiral arteries were not visualized in 28.1, 14.8 and 11.1% of patients in the 1, 2 and 3 groups, respectively. No statistical differences were found in the pulsatility index of uterine blood flow depending on the genotype. Conclusion. In patients with the A rs2285052 and T rs243865 alleles of the MMP2 gene poor vascular patterns of the endometrium and subendometrial zone of the uterus were statistically significantly more frequent, which can lead to infertility. These associations are more pronounced for the rs2285052 polymorphism. The simultaneous determination of the rs2285052 and rs243865 polymorphisms does not provide additional information compared to the definition of rs2285052 alone.

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Association of Polymorphic and Haplotype Variants of the MSX1 Gene and the Impacted Teeth Phenomenon

Genes ◽

10.3390/genes12040577 ◽

2021 ◽

Vol 12 (4) ◽

pp. 577

Author(s):

Grzegorz Trybek ◽

Aleksandra Jaroń ◽

Anna Grzywacz

Keyword(s):

Primary Objective ◽

Control Group ◽

Study Group ◽

Nucleotide Polymorphisms ◽

Impacted Tooth ◽

Single Nucleotide ◽

Impacted Teeth ◽

Tooth Impaction ◽

Study Participants

It is known that genetic factors determine odontogenesis; furthermore, studies have revealed that various genes in humans can regulate the development of different types and generations of teeth. In this study it has been assumed that tooth impaction—at least to some extent—also depends on the presence of specific genetic markers, especially allelic variants of the MSX1 gene. The primary objective of the study was to evaluate the suitability of selected molecular markers located within the MSX1 gene for the determination of the risk of tooth impaction in particular patients. The study participants were divided into two groups: (1) the study group—at least one secondary tooth was impacted in the jaws; (2) the control group—no impacted tooth in the jaws. Real-Time PCR and TaqMan probes were used to detect selected polymorphisms in the analyzed genes. Two single nucleotide polymorphisms of MSX1 were analyzed. After the two subgroups of patients were distinguished in the study group based on the number of impacted teeth, statistically significant differences in the frequency of genotypes described for rs12532 in the MSX1 gene were found.

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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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Development of a simple method for the determination of single nucleotide polymorphisms

Cell Biology International ◽

10.1042/cbi034s075c ◽

2010 ◽

Vol 34 (8) ◽

pp. S75-S75

Author(s):

Weifeng Zhu ◽

Zhuoqi Liu ◽

Daya Luo ◽

Xinyao Wu ◽

Fusheng Wan

Keyword(s):

Single Nucleotide Polymorphisms ◽

Nucleotide Polymorphisms ◽

Simple Method ◽

Single Nucleotide

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Association of the CD14 C159T and the Toll-like receptor 4 Asp299Gly polymorphisms with various phenotypes of asthma in adults from Crimea

Allergy and Asthma Proceedings ◽

10.2500/aap.2019.40.190007 ◽

2020 ◽

Vol 41 (2) ◽

pp. 134-140

Author(s):

Yuriy Bisyuk ◽

Andrew Dubovyi ◽

Ilona DuBuske ◽

Viktor Litus ◽

Lawrence M. DuBuske

Keyword(s):

Late Onset ◽

Adult Population ◽

Additive Models ◽

Atopic Asthma ◽

Control Group ◽

Nucleotide Polymorphisms ◽

Toll Like Receptor ◽

Toll Like Receptor 4 ◽

Single Nucleotide ◽

Gender And Age

Background: This study assessed gene polymorphisms of the CD14 receptor (C-159T) and Toll-like receptor 4 (Asp299Gly) in a patient population in Crimea, Ukraine, stratified by clinical (early versus late onset; frequent versus occasional relapses; fixed versus reversible obstruction) and immunologic (atopic versus nonatopic; eosinophilic; neutrophilic or paucigranulocytic inflammation) subtype. Methods: Two polymorphisms, CD14 C-159T and TLR4 Asp299Gly, were assessed in 331 patients with asthma. The control group included 285 volunteers who were nonatopic. The single nucleotide polymorphisms were studied by using polymerase chain reaction with electrophoretic detection. Results: There were increased odds of asthma development in patients with the Asp299Gly TLR4 mutation compared with the general population underdominant odds ratio (OR) 1.52 [95% confidence interval (CI), 1.00‐2.32] and overdominant (OR 1.55 [95% CI, 1.01‐2.38]) models after adjustment for gender and age. In addition, mutations in this gene decreased the odds of nonatopic asthma in underdominant (OR 0.26 [95% CI, 0.07‐0.93]; p = 0.027), overdominant (OR 0.27 [95% CI, 0.07‐0.96]; p = 0.033), and log-additive models (OR 0.26 [95% CI, 0.07‐0.93]; p = 0.026) compared with the atopic subgroup after adjustment for gender, age, number of exacerbations, and type of airway inflammation. Allele frequencies for CD14 and TLR4 polymorphisms did not show statistical differences between the patients with asthma and the control subjects. Conclusion: CD14 C-159T polymorphisms were not associated with asthma in the adult population in Crimea. TLR4 Asp299Gly polymorphisms were associated with asthma and with decreased odds of nonatopic asthma compared with atopic asthma in the adult population in Crimea.

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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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Genotyping of Essential Hypertension Single-Nucleotide Polymorphisms by a Homogeneous PCR Method with Universal Energy Transfer Primers

Clinical Chemistry ◽

10.1093/clinchem/48.12.2131 ◽

2002 ◽

Vol 48 (12) ◽

pp. 2131-2140 ◽

Cited By ~ 66

Author(s):

Chikh Bengra ◽

Theodore E Mifflin ◽

Yuri Khripin ◽

Paolo Manunta ◽

Scott M Williams ◽

...

Keyword(s):

Essential Hypertension ◽

Single Nucleotide Polymorphisms ◽

Restriction Endonucleases ◽

Control Group ◽

Italian Population ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Hypertensive Patients ◽

Unique Restriction ◽

Set Up

Abstract Background: Human hypertension is a complex, multifactorial disease with a heritability of more than 30–50%. A genetic screening test based on analysis of multiple single-nucleotide polymorphisms (SNPs) to assess the likelihood of developing hypertension would be helpful for disease management. Methods: Tailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: −6G→A and M235T; and one in aldosterone synthase: −344C→T] associated with essential hypertension. PCRs of SNP loci were coupled (via a common sequence of 21 nucleotide tails) to incorporate Universal Amplifluor™ primers labeled with fluorescein or sulforhodamine in a homogeneous format. Use of Amplifluors in SNP PCRs produced labeled amplicons, the fluorescence of which was quantified by a microplate reader and then analyzed via an Excel macro to provide genotypes for all six SNP loci. Unique restriction endonucleases were identified for five SNP loci that could independently confirm homogeneous PCR results when needed. Results: We developed six homogeneous PCR assays that were set up, performed, and fluorometrically analyzed in 96-well microplates. Allele frequencies were determined for six SNPs in 60 Italian hypertensive patients and a control group of 60 normotensive persons. A significant correlation (P = 0.034) between one SNP [GRK4 (A486V)] and the hypertensive patients was observed. Genotyping results for five of six SNPs were confirmed by digesting corresponding amplicons with locus-specific restriction endonucleases. Conclusions: We developed a simple and homogeneous fluorescent protocol that has been used to determine the SNP genotype for six loci in a population of hypertensive and normotensive persons. We also observed a significant association (P = 0.034) between one SNP (A486V) and an Italian population of mildly hypertensive patients.

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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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The G allele in IL-10-1082 G/A may have a role in lowering the susceptibility to panic disorder in female patients

Acta Neuropsychiatrica ◽

10.1017/neu.2016.25 ◽

2016 ◽

Vol 28 (6) ◽

pp. 357-361 ◽

Cited By ~ 2

Author(s):

Han-Joon Kim ◽

Yong-Ku Kim

Keyword(s):

Panic Disorder ◽

Patient Group ◽

Control Group ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Female Patients ◽

Immune System Activation ◽

Tnf Α ◽

System Activation ◽

And Control

BackgroundImmune system activation is involved in the pathophysiology of panic disorder (PD). We investigated INF-γ+874 A/T, TNF-α-308 G/A, and IL-10-1082 G/A single nucleotide polymorphisms (SNPs) to determine their association with PD.MethodThis study enroled 135 PD patients and 135 healthy controls. INF-γ+874 A/T (rs2430561), TNF-α-308 G/A (rs1800629), and IL-10-1082 G/A (rs1800896) were genotyped.ResultsThere were no differences in genotypes or allele frequencies between the patient and control groups, regardless of accompanying agoraphobia. However, for female patients, the G allele frequency in IL-10 SNP was higher in the control group than in the patient group. Additionally, the female control group had a higher frequency of the A/G and G/G genotype in the IL-10 SNP than the female patient group.ConclusionWe suggest that the G allele in IL-10-1082 G/A might have a role in reducing the manifestations of PD in female patients. Further studies are needed to extend and confirm our findings.

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Bovine luteal blood flow: basic mechanism and clinical relevance

Reproduction Fertility and Development ◽

10.1071/rd12278 ◽

2013 ◽

Vol 25 (1) ◽

pp. 71 ◽

Cited By ~ 19

Author(s):

Heinrich Bollwein ◽

Johannes Lüttgenau ◽

Kathrin Herzog

Keyword(s):

Blood Flow ◽

Doppler Sonography ◽

Decisive Role ◽

Basic Mechanism ◽

Colour Doppler Sonography ◽

Plasma Progesterone ◽

Luteal Function ◽

Additional Information ◽

Interindividual Variations

The introduction of transrectal colour Doppler sonography (CDS) has allowed the evaluation of luteal blood flow (LBF) in cows. Because appropriate angiogenesis plays a decisive role in the functioning of the corpus luteum (CL), studies on LBF may provide valuable information about the physiology and pathophysiology of the CL. Studies on cyclic cows have shown that progesterone concentrations in blood plasma can be more reliably predicted by LBF than by luteal size (LS), especially during the regression phase of the CL. In contrast with non-pregnant cows, a significant increase in LBF is seen in pregnant cows during the third week after insemination. However, because there are high interindividual variations in LBF between animals, LBF is not useful for the early diagnosis of pregnancy. Determination of LBF is more sensitive than LS for detecting the effects of acute systemic inflammation and exogenous hormones on the CL. Cows with low progesterone levels have smaller CL during the mid-luteal phase, but LBF related to LS did not differ between cows with low and high progesterone levels. In conclusion, LBF determined by CDS provides additional information about luteal function compared with LS and plasma progesterone concentrations, but its role concerning fertility in the cow is yet to be clarified.

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Association Analysis of Single Nucleotide Polymorphisms in the 5′ Regulatory Region of the IL-6 Gene with Eimeria tenella Resistance in Jinghai Yellow Chickens

Genes ◽

10.3390/genes10110890 ◽

2019 ◽

Vol 10 (11) ◽

pp. 890 ◽

Cited By ~ 1

Author(s):

Hailiang Yu ◽

Wenbin Zou ◽

Shijie Xin ◽

Xiaohui Wang ◽

Changhao Mi ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Association Analysis ◽

Direct Sequencing ◽

Regulatory Region ◽

Eimeria Tenella ◽

Least Square ◽

Bursa Of Fabricius ◽

Control Group ◽

Nucleotide Polymorphisms ◽

Single Nucleotide

Interleukin 6 (IL-6) is an immunoregulatory cytokine involved in various inflammatory and immune responses. To investigate the effects of single nucleotide polymorphisms (SNPs) and haplotypes of IL-6 on resistance to Eimeria tenella (E. tenella), SNPs in the 5′ regulatory region of IL-6 were detected with direct sequencing, and the effects of SNPs and haplotypes on resistance to E. tenella were analyzed by the least square model in Jinghai yellow chickens. Nineteen SNPs were identified in the 5′ regulation region of IL-6, among which three SNPs were newly discovered. The SNP association analysis results showed that nine of the SNPs were significantly associated with E. tenella resistance indexes; the A-483G locus was significantly associated with the GSH-Px, IL-2, and IL-17 indexes (p < 0.05); the C-447G locus was significantly associated with the SOD, GSH-Px, IL-17, and IL-2 indexes (p < 0.05); and the G-357A locus had significant effects on the CAT and IL-16 indexes (p < 0.05). Haplotype analysis showed that H2H3 and H2H5 were favorable haplotype combinations with good coccidium resistance. Furthermore, we used qRT-PCR and observed that the expression of IL-6 in the infection group was higher than that in the control group in the liver, proventriculus, small intestine, thymus, kidney, and bursa of Fabricius and extremely significantly different than that in the cecum especially (p < 0.01). In summary, SNPs and haplotypes in the 5′ regulatory region of IL-6 have important effects on E. tenella resistance, and the results will provide a reference for molecular marker selection of E. tenella resistance in Jinghai yellow chickens.

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