scholarly journals Association of AhRR rs2292596 with male infertility in 422 Vietnamese individuals

2021 ◽  
Vol 18 (4) ◽  
pp. 317-624
Author(s):  
Tran Huu Dinh ◽  
Nguyen Xuan Canh ◽  
Dinh Huong Thao ◽  
Luong Thi Lan Anh ◽  
Bui Minh Duc ◽  
...  
Keyword(s):  
Male Infertility ◽  
Genetic Factors ◽  
P Value ◽  
Healthy Controls ◽  
Multiple Factors ◽  
Pcr Rflp ◽  
Vietnamese Population ◽  
Hardy Weinberg Equilibrium ◽  
Reproductive Disease ◽  
Total Dna

Male infertility is a reproductive disease in men caused by multiple factors ranging from harmful lifestyle habits to endogenous genetic elements. This study aimed to investigate the association between the polymorphism AhRR rs2292596 and male infertility. Total DNA was extracted from blood of 422 Vietnamese samples including 218 non-obstructive azoospermic and oligozoospermic patients and 204 healthy controls. The genotypes of the polymorphism were determined by PCR-RFLP method. The distribution of genotypes and their relationship with male infertility were analyzed by statistical methods. The results indicated that rs2292596 AhRR followed Hardy-Weinberg equilibrium (p-value > 0.05). However, there was association between the rs2292596 polymorphism and male infertility in the three models (additive, dominant, and recessive) (p-value > 0.05). The investigation would help enrich the knowledge about the influences of genetic factors on male infertility in the Vietnamese population.

scholarly journals Association of \(\textit{FSIP2}\) rs4666689 and \(\textit{PON2}\) rs7493 with male infertility in Vietnamese population

2021 ◽  
Vol 43 (3) ◽  
pp. 77-85
Author(s):  
Tran Huu Dinh ◽  
Dinh Thanh Thao ◽  
Luong Thi Lan Anh ◽  
Bui Minh Duc ◽  
Nguyen Thuy Duong
Keyword(s):  
Male Infertility ◽  
Population Total ◽  
P Values ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Global Health Issue ◽  
Hereditary Factors ◽  
Vietnamese Population ◽  
Hardy Weinberg Equilibrium ◽  
Different Populations

Reproductive impairment in men is a multifactorial disease and is currently considered a global health issue. Previous studies have investigated the correlation between genetic variants and male infertility in different populations. However, such studies have appeared in limited amounts in the Vietnamese population. This study aimed to assess the association of polymorphisms FSIP2 rs4666689 and PON2 rs7493 with male infertile susceptibility in the Vietnamese population. Total DNAs were isolated from 376 samples, including 175 males with infertility and 201 controls having at least one child. For FSIP2 rs4666689, all 376 samples were applied for genotyping using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). For PON2 rs7493, only 178 samples (80 infertile patients and 98 controls) were used to assess genotype frequencies. By using statistical methods, we showed that the distribution of their genotypes was in accordance with Hardy-Weinberg equilibrium (p-values > 0.05). However, no association between both polymorphisms (FSIP2 rs4666689 and PON2 rs7493) and male infertility in the Vietnamese population was detected (p-values > 0.05). This study would help enrich to the knowledge about the effects of hereditary factors on male infertility in the Vietnamese population.

scholarly journals Thrombophilic Genetic Factors PAI-1, MTHFRC677T, V Leiden 506Q, and Prothrombin 20210A in Noncirrhotic Portal Vein Thrombosis and Budd-Chiari Syndrome in a Caucasian Population

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Mario D’Amico ◽  
Pietro Sammarco ◽  
Linda Pasta
Keyword(s):  
Hepatocellular Carcinoma ◽  
Liver Cirrhosis ◽  
Genetic Factors ◽  
Healthy Controls ◽  
Budd Chiari Syndrome ◽  
Vein Thrombosis ◽  
Chiari Syndrome ◽  
Hardy Weinberg Equilibrium ◽  
Pai 1 ◽  
Prothrombin 20210A

Thrombophilic genetic factors PAI-1, MTHFRC677T, V Leiden 506Q, and Prothrombin 20210A were studied as risk factors in 235 Caucasian subjects: 85 patients with abdominal thrombosis (54 with portal vein thrombosis (PVT) and 31 with Budd-Chiari syndrome (BCS) without liver cirrhosis or hepatocellular carcinoma) and 150 blood bank donors. Seventy-five patients with PVT/BCS showed associated disease or particular clinical status (46 PVT/29 BCS): 37 myeloproliferative neoplasm (20 PVT/17 BCS), 12 abdominal surgery (10 PVT/2 BCS), 10 contraception or pregnancy (6 PVT/4 BCS), 7 abdominal acute disease (6 PVT/1 BCS), and 9 chronic disease (4 PVT/5 BCS); ten patients did not present any association (8 PVT/2 BCS). PAI-14G-4G, MTHFR677TT, and V Leiden 506Q were significantly frequent (OR 95% CI andχ2test withPvalue) in abdominal thrombosis; in these patients PAI-14G-4G and MTHFR677TT distributions deviated from that expected from a population in the Hardy-Weinberg equilibrium (PAI-1:χ2=13.8,P<0.001; MTHFR677:χ2=7.1,P<0.01), whereas the equilibrium was respected in healthy controls. V Leiden Q506 and Prothrombin 20210A were in the Hardy-Weinberg equilibrium both in patients with abdominal thrombosis and healthy controls. Our study shows an important role of PAI-14G-4G and MTHFR677TT in abdominal thrombosis without liver cirrhosis or hepatocellular carcinoma.

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

Medicina ◽  
2019 ◽  
Vol 55 (1) ◽  
pp. 8 ◽  
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.

scholarly journals No Direct Association of Serotonin Transporter (STin2 VNTR) and Receptor (HT 102T>C) Gene Variants in Genetic Susceptibility to Migraine

2010 ◽  
Vol 29 (5) ◽  
pp. 223-229 ◽  
Author(s):  
Gunjan Joshi ◽  
Sunil Pradhan ◽  
Balraj Mittal
Keyword(s):  
Genetic Susceptibility ◽  
Serotonin Transporter ◽  
Serotonin Receptor ◽  
Fragment Length Polymorphism ◽  
Significant Risk ◽  
P Value ◽  
Healthy Controls ◽  
Pcr Rflp ◽  
Direct Association ◽  
Polymerase Chain

We aimed to find out if the serotonin receptor (HT102T>C) and serotonin transporter (STin 2) polymorphisms play any role in genetic susceptibility of migraine. For the study, 217 migraine patients and 217 healthy controls (HC) were recruited and genotyping was carried out using the Polymerase Chain Reaction and Restriction Fragment Length polymorphism (PCR-RFLP) method. All results were Bonferroni corrected. We could not find any significant differences in the genotype or allele frequencies in case of HT 102 T>C polymorphism between migraine patients and healthy controls (P value=0.224). No significant association was seen at allele and carrier levels. Sub-grouping the patients on the basis of gender or on basis of migraine type i.e. with or without aura also did not show any association. Similarly, no difference in genotype (P value=0.236), allele (P value=0.550) or carrier frequency (P value=0.771) in STin 2 VNTR polymorphism was observed between migraine patients. However, HT 102 TC genotype was observed to interact significantly with the STin 2.10/10 genotype in enhancing risk of migraine, both with and without aura. In conclusion, the HT102 T>C receptor and the STin 2 VNTR transporter polymorphisms, did not individually confer any significant risk of migraine or its clinical subtypes but the two polymorphisms appear to synergistically influence susceptibility to migraine. Serotonin transporter (STin2 VNTR) and receptor (HT 102T>C) polymorphisms; Migraine with aura (MA); Migraine without aura (MO); Genetic susceptibility

scholarly journals The Influence of Interleukin17AandIL17FPolymorphisms on Chronic Periodontitis Disease in Brazilian Patients

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Joana Maira Valentini Zacarias ◽  
Emília Ângela Sippert ◽  
Patrícia Yumeko Tsuneto ◽  
Jeane Eliete Laguila Visentainer ◽  
Cléverson de Oliveira e Silva ◽  
...  
Keyword(s):  
Chronic Periodontitis ◽  
Case Control Study ◽  
Case Control ◽  
Healthy Controls ◽  
Southern Brazil ◽  
Chi Square ◽  
Pcr Rflp ◽  
Hardy Weinberg Equilibrium ◽  
Caucasian Patients ◽  
Control Study

A case-control study was conducted on patients with chronic periodontitis (CP) and healthy controls with the aim of evaluating possible association between interleukin17A (IL17A)G197A (rs2275913) andIL17FT7488C (rs763780) polymorphisms and periodontitis. Genotypes were determined by PCR-RFLP method. Statistical analyses were conducted using the OpenEpi and SNPStas software to calculate Chi-square with Yates correction or Fisher’s exact tests, odds ratios (OR), and 95% confidence intervals (CIs). SNPStas software was used to calculate Hardy-Weinberg equilibrium.IL17AAA genotype was more frequent in patients with chronic periodontitis (CP) in the codominant and recessive models (P=0.09; OR = 2.53 andP=0.03; OR = 2.46, resp.), the females with CP (P=0.01, OR = 4.34), Caucasoid patients with CP (P=0.01, OR = 3.45), and nonsmoking Caucasian patients with CP (P=0.04, OR = 3.51). TheIL17AA allele was also more frequent in Caucasians with CP (P=0.04, OR = 1.59).IL17FT7488C polymorphism was not associated with chronic periodontitis. In these patients from Southern Brazil, theIL17Ars2275913 polymorphisms,IL17AAA genotype, and the A allele were associated with a susceptibility to chronic periodontitis.

The Protective Effect of Metformin against Oxandrolone-Induced Infertility in Male Rats

2020 ◽  
Vol 26 ◽  
Author(s):  
Abdulqader Fadhil Abed ◽  
Yazun Bashir Jarrar ◽  
Hamzeh J Al-Ameer ◽  
Wajdy Al-Awaida ◽  
Su-Jun Lee
Keyword(s):  
Gene Expression ◽  
Male Infertility ◽  
Protective Effect ◽  
Histological Examination ◽  
Sperm Count ◽  
Serum Testosterone ◽  
Male Rats ◽  
P Value ◽  
Protective Effects ◽  
Rt Pcr

Background: Oxandrolone is a synthetic testosterone analogue that is widely used among bodybuilders and athletes. However, oxandrolone causes male infertility. Recently, it was found that metformin reduces the risk of infertility associated with diabetes mellitus. Aim: This study aimed to investigate the protective effects of metformin against oxandrolone-induced infertility in male rats. Methods: Rats continuously received one of four treatments (n=7) over 14 days: control DMSO administration, oxandrolone administration, metformin administration, or co-administration of oxandrolone and metformin. Doses were equivalent to those used for human treatment. Subsequently, testicular and blood samples were collected for morphological, biochemical, and histological examination. In addition, gene expression of the testosterone synthesizing enzyme CYP11A1 was analyzed in the testes using RT-PCR. Results: Oxandrolone administration induced male infertility by significantly reducing relative weights of testes by 48%, sperm count by 82%, and serum testosterone levels by 96% (ANOVA, P value < 0.05). In addition, histological examination determined that oxandrolone caused spermatogenic arrest which was associated with 2-fold downregulation of testicular CYP11A1 gene expression. However, co-administration of metformin with oxandrolone significantly ameliorated toxicological alterations induced by oxandrolone exposure (ANOVA, P value < 0.05). Conclusion: Metformin administration protected against oxandrolone-induced infertility in male rats. Further clinical studies are needed to confirm the protective effect of metformin against oxandrolone-induced infertility among athletes.

Occurrence of Interleukin-2 (330 G/T) Promoter Polymorphism in ARV associated hepatotoxicity

2019 ◽  
Vol 19 (3) ◽  
pp. 206-215
Author(s):  
HariOm Singh ◽  
Nayana Nambiar ◽  
Dharmesh Samani ◽  
Raman R. Gangakhedkar
Keyword(s):  
Hepatic Injury ◽  
Interleukin 2 ◽  
Promoter Polymorphism ◽  
Healthy Controls ◽  
Hiv Replication ◽  
Hiv Patients ◽  
Pcr Rflp

Background: IL-2 cytokine is involved in HIV replication and is also known to cause hepatic injury. Polymorphisms in the IL-2 gene are associated with altered interleukin-2 production. Methods: Hence, we assessed the prevalence of IL-2-303G/T polymorphism in 165 HIV patients (34 with and 131without hepatotoxicity) and 155 healthy controls using the PCR-RFLP method. Results: In patients with hepatotoxicity, IL-2-303GT, -303GT+TT genotypes were less prevalent as compared to without hepatotoxicity and healthy controls (29.4% vs. 42.7%, 58.8% vs. 69.5%; 29.4% vs. 40.6%, 58.8% vs. 66.5%, respectively). In patients with hepatotoxicity using tobacco and alcohol, IL-2-303GT,-303TT genotypes were distributed higher as compared to non-users (42.9% vs. 25.9%, OR=8.52, 42.9% vs. 25.9%, OR=9.09, and 28.6% vs. 29.6%, OR=1.63, 42.9% vs. 25.9%, OR=2.93), while IL-2-303TT genotype occurred more often in HIV patients consuming alcohol (34.1% vs. 23.0%). Nevirapine users with hepatotoxicity overrepresented the IL-2-303GT,-303TT genotypes as compared to efavirenz (34.8% vs. 18.2%, OR=4.64, 34.8% vs. 18.2%, OR=3.88). Among nevirapine users, IL-2-303GT genotype was associated with susceptibility to the acquisition of hepatotoxicity with borderline significance (OR=4.24, P=0.06). HIV patients using nevirapine majorly represented the IL-2-303TT genotype (26.9% vs. 25.0%, OR=2.35) while HIV patients with nevirapine + alcohol usage presented the IL-2 -330TT genotype at a higher frequency (34.2% vs. 23.5%, OR=1.51). In patients with hepatotoxicity using nevirapine + alcohol, the genotype IL-2 - 330TT was predominant (60.0% vs. 27.8%, OR=3.16). Conclusion: Thus, IL-2-303G/T polymorphism did not confer the susceptibility to ARV associated hepatotoxicity. However, IL-2-303G/T polymorphism with nevirapine usage may facilitate the risk for acquisition of ARV associated hepatotoxicity.

scholarly journals Vaginal microbiome Lactobacillus crispatus is heritable among European American women

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Michelle L. Wright ◽  
Jennifer M. Fettweis ◽  
Lindon J. Eaves ◽  
Judy L. Silberg ◽  
Michael C. Neale ◽  
...  
Keyword(s):  
Genetic Factors ◽  
European Ancestry ◽  
P Value ◽  
European American ◽  
Extrinsic Factors ◽  
American Women ◽  
Lactobacillus Crispatus ◽  
Host Genetic ◽  
Host Genetic Factors ◽  
European American Women

AbstractThe diversity and dominant bacterial taxa in the vagina are reported to be influenced by multiple intrinsic and extrinsic factors, including but not limited to pregnancy, contraceptive use, pathogenic states, socioeconomic status, and ancestry. However, the extent to which host genetic factors influence variation in the vaginal microbiota is unclear. We used a biometrical genetic approach to determine whether host genetic factors contribute to inter-individual differences in taxa from a sample of 332 twins who self-identified as being of African (44 pairs) or European ancestry (122 pairs). Lactobacillus crispatus, a major determinant of vaginal health, was identified as heritable among European American women (narrow-sense heritability = 34.7%, P-value = 0.018). Heritability of L. crispatus is consistent with the reduced prevalence of adverse reproductive disorders, including bacterial vaginosis and preterm birth, among women of European ancestry.

Over-expression of IL-6 coding gene in the peripheral blood of migraine with aura patients

2021 ◽  
pp. 1-5
Author(s):  
Mahdi Ramezani ◽  
Alireza Komaki ◽  
Mohammad Mahdi Eftekharian ◽  
Mehrdokht Mazdeh ◽  
Soudeh Ghafouri-Fard
Keyword(s):  
Migraine With Aura ◽  
Peripheral Blood ◽  
Healthy Subjects ◽  
Migraine Without Aura ◽  
P Value ◽  
Healthy Controls ◽  
Over Expression ◽  
Significant Difference ◽  
Male Patients ◽  
Years Lived With Disability

Migraine is a common disorder which is placed among the top ten reasons of years lived with disability. Cytokines are among the molecules that contribute in the pathophysiology of migraine. In the current study, we evaluated expression levels of IL-6 coding gene in the peripheral blood of 120 migraine patients (54 migraine without aura and 66 migraine with aura patients) and 40 healthy subjects. No significant difference was detected in expression of IL-6 between total migraine patients and healthy controls (Posterior beta = 0.253, P value = 0.199). The interaction effect between gender and group was significant (Posterior beta =-1.274, P value = 0.011), therefore, we conducted subgroup analysis within gender group. Such analysis revealed that while expression of this gene is not different between male patients and male controls (Posterior beta =-0.371, P value > 0.999), it was significantly over-expressed in female patients compared with female controls (Posterior beta = 0.86, P= 0.002). Expression of IL-6 was significantly higher in patients with aura compared with controls (Posterior beta = 0.63, adjusted P value = 0.019). However, expression of this cytokine coding gene was not different between patients without aura and healthy subjects (Posterior beta = 0.193, adjusted P value = 0.281). Therefore, IL-6 might be involved in the pathophysiology of migraine among females and migraine with aura among both sexes.

scholarly journals 306 The Changing Face of Stroke in the DOAC Era

2019 ◽  
Vol 48 (Supplement_3) ◽  
pp. iii17-iii65
Author(s):  
Recie Davern ◽  
Helena Hobbs ◽  
Hannah Murugan ◽  
Paul Cotter
Keyword(s):  
Atrial Fibrillation ◽  
Oral Anticoagulants ◽  
P Value ◽  
Stroke Management ◽  
Medicines Management ◽  
First Line ◽  
Stroke Registry ◽  
Multiple Factors ◽  
Direct Acting ◽  
Anticoagulated Patients

Abstract Background Patients prescribed oral anticoagulants (OAC) for atrial fibrillation (AF) can still present with stroke. The mechanism for stroke in these patients can be due to multiple factors including subtherapeutic dosing and non-compliance. With the increasing use of direct-acting OACs (DOACs) in favour of warfarin, it is unclear if the incidence of stroke in those already taking OAC has reduced. Methods Data was extracted from our unit’s stroke registry, a prospectively maintained database, for patients who presented with stroke while receiving OAC for AF from 2013 to 2017. Type of OAC, type of stroke, OAC dosing at time of event including non-compliance, stroke management and outcome were recorded. Results 67 patients were included for analysis, with 55 ischaemic and 12 haemorrhagic strokes. 52 patients were receiving warfarin at the time of their stroke vs. 15 receiving DOACs. 33/55 (60%) of ischaemic strokes occurred in patients taking warfarin with a sub-therapeutic INR. In 3/55 (5%) of ischaemic strokes, the OAC was held for a procedure while in 6/55 cases (11%) the OAC had been stopped for another reasons e.g. bleeding. 5/55 (7%) were due to non-compliance. 1 ischaemic stroke was due to under-dosing of a DOAC (dabigatran). 16 strokes were recorded in 2013 for patients prescribed OAC vs. 3 in 2017. Overall the number of ischaemic strokes due to subtherapeutic OAC decreased from 14 in 2013 to 1 in 2017 (p value 0.06). Conclusion The majority of strokes occurring in anticoagulated patients are related to warfarin use. We observed an almost significant reduction in the proportion of ischaemic strokes due to under-dosing of OAC over the study period. Warfarin continues to be recommended as the first line anticoagulant for stroke prevention in atrial fibrillation by the HSE Medicines Management Programme, a decision which we would argue warrants review.

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