Background: We aimed to retrospectively review data of pregnant women with the α-fibrinogen Thr331Ala polymorphism; evaluate the relationship between this polymorphism and spontaneous abortion (SA), ...fetal growth restriction (FGR), and intrauterine fetal death (IUFD); and assess the effects of aspirin and/or heparin.
Materials and methods: We examined the outcomes of 29 pregnancies (nine women) in women with the α-fibrinogen Thr331Ala polymorphism. Of these, 16 were untreated, whereas 13 were treated with heparin and/or aspirin.
Results: The live birth rate was significantly higher in the treated group than in the nontreated group (69.2 versus 6.2%; p = .0004). In addition, the prophylactic use of a low dose of aspirin and/or heparin during early pregnancy in women with Thr331Ala may be an effective method for reducing fetal loss in these patients.
Conclusions: This polymorphism interacts with pregnancy to result in poor obstetrical outcomes, but these effects can be mitigated with medical intervention. This study is the first to report outcomes of pregnancies complicated by the Thr331Ala polymorphism, which we believe may cause thrombophilia, SA, and IUFD. This study highlights the need for further research on this polymorphism in pregnancy.
Background and Objectives: The role of various genetic markers including alpha synuclein, Parkin, etc., is known in the pathogenesis of Parkinson’s disease (PD). Novel genetic markers including ...paraoxonase 1 ( PON1 ) have also been linked to PD pathogenesis in recent studies. The PON1 L55M allele carriers may have defective clearance of environmental toxins and may result in increased susceptibility to PD. Hence, we studied the role of PON1 L55M polymorphism in PD among a North Indian population. Materials and Method: Seventy-four PD patients and 74 age- and sex-matched controls were recruited in this hospital-based case–control study. Baseline characteristics were recorded using structured questionnaire. DNA was extracted from 3–4 ml of venous blood, followed by PCR and restriction digestion. PON1 L55M genotypes were visualized as bands: LL (177 bp), LM (177, 140 bp) and MM (140,44 bp) on 3% agarose gel. Mann–Whitney U test and Chi-squared test were used for comparing two groups of skewed and categorical variables, respectively. Measures of strength of association were calculated by binary regression analysis. P value < 0.05 was considered as significant. Results: Parkinson’s disease patients had significantly higher exposure to pesticides (12.2%; P (organophosphate exposure) < 0.001) and well water drinking (28.4%; P = 0.006) compared to controls. Frequency distribution of LL, LM, MM genotypes was 67.5% (50/74), 28.4% (21/74), and 4.1% (3/74), respectively, for cases and 72.6% (54/74), 26% (19/74) and 1.4% (1/74), respectively, for controls. PON1 L55M genotype distribution between Parkinson’s disease cases and controls was not significant ( P = 0.53). PON1 L55M polymorphism was not associated with PD after adjusting for confounders by binary regression analysis. Conclusion: There was no significant association between PON1 L55M polymorphism and PD. Larger population-based studies would be required from India before drawing any definite conclusions.
Background and Aims: COVID-19-related pulmonary inflammation is linked to elevated plasma levels of a group of proinflammatory cytokines. We aim to identify the association between IL-6 rs1800795, ...IL-17 rs2275913, and IL-37 rs3811046 gene polymorphisms and COVID-19 severity and prognosis. Methods: Two hundreds adult COVID-19-confirmed patients (100 patients with non-severe and 100 patients with severe or critical COVID-19) and 100 healthy individuals were enrolled in this cross-sectional study. Clinical and laboratory evaluations were performed, including liver and kidney functions, complete and differential blood counts, C-reactive protein, and D-dimer. Genotyping for IL-6 (rs1800795), IL-17 (rs2275913), and IL-37 (rs3811046) was conducted using allelic discrimination real-time PCR assay via TaqMan probes. The levels of IL-6, IL-17, and IL-37 were estimated by enzyme-linked immunosorbent assay (ELISA). Results: Serum levels of IL-6 and IL-17 were increased while IL-37 declined with ongoing COVID-19 severity. IL-6 rs1800795 genotypes and alleles did not differ significantly between the studied groups. Meanwhile, IL-17 rs2275913 GA (heterozygous) and AA (homozygous) genotypes and A allele showed significantly higher frequencies in the control group compared to those in the patients’ groups and were proposed as protective factors against COVID-19 occurrence and increased severity. Notably, IL-37 rs3811046, GT and TT variants, and T allele were more prevalent in the patients’ groups than in the control group and might be related to both disease occurrence and progression. Conclusion: Both GG genotype and G allele of IL-17 (rs2275913) and TT genotype and T allele of IL-37 (rs3811046) and their serum levels are potential risk factors for COVID-19 infection and severity, making them excellent disease management targets.
Cryptorchidism is one of the most common congenital anomalies in male children, occurring in 2–5% of full-term male infants. Both genetic and environmental factors are observed to play a role in its ...etiology. A study conducted in Japan identified the AXIN1 gene as being associated with cryptorchidism.
We aimed to conduct a pilot study on AXIN1 gene polymorphism in Turkish children with cryptorchidism, and whether AXIN1 gene polymorphism is a risk factor for cryptorchidism.
Between January 2023 and December 2023, we have planned a prospective controlled study including 84 boys operated for cryptorchidism as study group, and 96 boys operated for circumcision as control group. The remaining blood samples of preoperative laboratory tests in ethylenediamine tetraacetic acid (EDTA) tubes were kept at −20 Co freezer for genomic studies. Patient demographics, physical examination and operative findings were recorded, study patients were grouped according to testis localization. After collecting all samples, genomic DNA isolation procedure was done, and analysis of the 3 polymorphisms (rs12921862, rs1805105 and rs370681) of AXIN1 gene was performed using conventional Polymerase Chain Reaction Restriction Fragment Length Polymorphism (PCR-RFLP) method. Genotype and allele frequencies of each group was analyzed and compared.
The most common location of cryptorchid testis was proximal inguinal (53%), followed by distal inguinal (25.3%), bilateral (13.3%), and intra-abdominal (8.4%). Regarding the 3 polymorphisms of AXIN1 gene, there was no significant difference between study and control groups, in terms of genotype and allele frequencies (P > 0.05). Eight haplotype blocks were estimated for 3 polymorphisms of AXIN1. However, no significant difference was observed between study and control groups regarding haplotype distributions (P > 0.05). In addition, the comparison of the localization of testis with AXIN1 gene polymorphism did not show any significant difference among cryptorchid testis groups (P > 0.05).
The AXIN1 gene is located on chromosome 16p and its polymorphisms have been associated with various diseases. In a Chinese study, the rs370681 polymorphism was found to be associated with cryptorchidism. However, our results showed no association between the AXIN1 gene haplotypes for the studied polymorphisms and cryptorchidism.
In this study we have investigated the AXIN1 gene polymorphism in Turkish children with cryptorchidism as a pilot study. Although we could not identify any difference as compared to control group, further research is necessary to uncover the underlying molecular mechanisms contributing to the development of cryptorchidism.
Relevance. Dissensions in genotype distribution may substantively vary among different ethnic groups; that is why association of particular polymorphous markers with arterial hypertension (AH) ...development not always matches among distinct populations, which makes researches significant for every ethnic and population group.
Objective is to study prevalence of polymorphism of A1166C-gene of angiotensin II receptor of the first type and T786C-promoter of endothelial NO-synthase gene among patients with arterial hypertension, residents of Ternopil region.
Material and methods. We have examined 86 patients with arterial hypertension who were treated and examined in the therapeutic department of the Central District Hospital in Kozova, aged from 45 to 76 years. The control group consisted of 30 healthy individuals. Genetic typing of endothelial NOS genes and angiotensin II receptors (type 1) genes was performed by means of polymerase chain reaction with electrophoretic scheme of result detection.
Results. When analyzing the frequency distribution of genotypes of polymorphism A1166C of the angiotensin II receptor gene type 1, it was found that the proportion of CC genotype in patients with stage 3 hypertension was 61.1%, which is probably more than in the control group – 16.6% (χ² = 10, 0, p = 0.002). Among patients with stage 2 hypertension, the frequency of AA genotype A1166C polymorphism of the angiotensin II type 1 receptor gene was lower than in the control group (19.1% vs. 43.3%, χ² = 5.2, p = 0.02), and among patients with stage 3 hypertension, the number of individuals with the AA genotype was 11.1% versus 43.3% in the control group (χ² = 5.43, p = 0.02). Analysis of the T-786C polymorphism of the eNOS gene promoter revealed that in patients with stage 2 hypertension, the frequency of pathological CC genotype was higher than in the control group (38.3% vs. 16.6%, χ² = 4.09, p = 0.04 ), patients with stage 3 hypertension also had a greater number of carriers of the CC genotype than in the control group (44.4% vs. 16.6%, χ² = 4.4, p = 0.03).
Conclusions. Results of the research have shown that polymorphism of the type 1 angiotensin II receptors’ A1166C gene and of the eNOS gene T786C-promotor are associated with development of arterial hypertension.
Cytochrome P450 3A5 (CYP3A5) includes two active genotypes, namely CYP3A5*1/*1 or *1/*3 with the fast metabolic activity and CYP3A5*3/*3 with slow metabolic. We retrospectively analyzed the ...correlation between CYP3A5 gene polymorphism and the susceptibility to the BK virus (BKV) infection in renal transplant recipients.
According to the inclusion/ exclusion criteria, we selected 134 recipients who received kidney transplantation at the Renmin Hospital of Wuhan University from January 2019 to December 2019. Based on the pre-operative CYP3A5 sequencing results, 134 recipients were divided into two groups: those expressing the fast metabolic CYP3A5*1/*1 or *1/*3 genotype; and, those expressing slow metabolic CYP3A5*3/*3 genotype. These two recipient groups were then analyzed for the BKV infection rate with different metabolic types to establish the potential relationship between CYP3A5 gene polymorphism and BKV infection.
The overall incidence of BKV viruria was 37.3%, whereas BKV viremia was 4.5% among all 134 recipients. The fast metabolism group had 9.1% incidence of BKV viremia and 49.1% incidence of BKV viruria. In contrast, the slow metabolism group had only 1.3%incidence of BKV viremia (P = 0.031) with only 29.1% BKV viruria (P = 0.011). The incidence of low levels of urinary BKV in the fast metabolism group was higher than that in the slow metabolism group (P = 0.005), while no significant statistical difference in the incidence of high levels of urinary BKV and high and low levels of blood BKV.
After kidney transplantation, CYP3A5 gene polymorphism of recipients present a certain relationship with the occurrence of BKV infection, which may be of value for the prediction and prevention of BKV infection.
•CYP3A5 gene polymorphism affects the metabolic rate of tacrolimus in kidney transplant recipients.•The incidence of BK virus infection was higher in kidney transplant recipients with CYP3A5*1 allele than in kidney transplant recipients with CYP3A5*3/*3 homozygous gene.•CYP3A5 genotype is significantly associated with BK virus infection.
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