Single nucleotide polymorphisms in Renalase and KCNQ1 genes and female infertility: A cross‐sectional study in Pakistan

Andrologia ◽  
2019 ◽  
Vol 51 (10) ◽  
Author(s):  
Syeda Sadia Fatima ◽  
Rehana Rehman ◽  
Russell Seth Martins ◽  
Faiza Alam ◽  
Mussarat Ashraf
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Cross Sectional Study ◽  
Female Infertility ◽  
Nucleotide Polymorphisms ◽  
Sectional Study ◽  
Cross Sectional ◽  
Single Nucleotide

scholarly journals Cross-sectional study of the association of 5 single nucleotide polymorphisms with enalapril treatment response among South African adults with hypertension

Medicine ◽  
2021 ◽  
Vol 100 (46) ◽  
pp. e27836
Author(s):  
Charity Masilela ◽  
Brendon Pearce ◽  
Joven Jebio Ongole ◽  
Oladele Vincent Adeniyi ◽  
Rabia Johnson ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Treatment Response ◽  
South African ◽  
Cross Sectional Study ◽  
Nucleotide Polymorphisms ◽  
Sectional Study ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Enalapril Treatment

scholarly journals Genetic Variants in Smoking-Related Genes in Two Smoking Cessation Programs: A Cross-Sectional Study

2021 ◽  
Vol 18 (12) ◽  
pp. 6597
Author(s):  
Gloria Pérez-Rubio ◽  
Luis Alberto López-Flores ◽  
Ana Paula Cupertino ◽  
Francisco Cartujano-Barrera ◽  
Luz Myriam Reynales-Shigematsu ◽  
...  
Keyword(s):  
Smoking Cessation ◽  
Cross Sectional Study ◽  
Nucleotide Polymorphisms ◽  
Sectional Study ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Genotype Frequencies ◽  
Quitting Smoking ◽  
Genes Encoding ◽  
Genomic Regions

Previous studies have identified variants in genes encoding proteins associated with the degree of addiction, smoking onset, and cessation. We aimed to describe thirty-one single nucleotide polymorphisms (SNPs) in seven candidate genomic regions spanning six genes associated with tobacco-smoking in a cross-sectional study from two different interventions for quitting smoking: (1) thirty-eight smokers were recruited via multimedia to participate in e-Decídete! program (e-Dec) and (2) ninety-four attended an institutional smoking cessation program on-site. SNPs genotyping was done by real-time PCR using TaqMan probes. The analysis of alleles and genotypes was carried out using the EpiInfo v7. on-site subjects had more years smoking and tobacco index than e-Dec smokers (p < 0.05, both); in CYP2A6 we found differences in the rs28399433 (p < 0.01), the e-Dec group had a higher frequency of TT genotype (0.78 vs. 0.35), and TG genotype frequency was higher in the on-site group (0.63 vs. 0.18), same as GG genotype (0.03 vs. 0.02). Moreover, three SNPs in NRXN1, two in CHRNA3, and two in CHRNA5 had differences in genotype frequencies (p < 0.01). Cigarettes per day were different (p < 0.05) in the metabolizer classification by CYP2A6 alleles. In conclusion, subjects attending a mobile smoking cessation intervention smoked fewer cigarettes per day, by fewer years, and by fewer cumulative pack-years. There were differences in the genotype frequencies of SNPs in genes related to nicotine metabolism and nicotine dependence. Slow metabolizers smoked more cigarettes per day than intermediate and normal metabolizers.

scholarly journals Molecular characterization of Glucose-6-Phosphate Dehydrogenase: do single nucleotide polymorphisms affect hematological parameters in HIV positive patients?

2020 ◽  
Author(s):  
Kwabena Owusu Danquah ◽  
Kofi Mensah ◽  
Charles Nkansah ◽  
Samuel Kwasi Appiah ◽  
Mark Noagbe ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
G6pd Deficiency ◽  
Hematological Parameters ◽  
Cross Sectional Study ◽  
Nucleotide Polymorphisms ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Mean Cell Volume ◽  
Glucose 6 Phosphate Dehydrogenase

Abstract Objectives: This descriptive, cross-sectional study aimed at evaluating the prevalence of G6PD deficiency, the 376A → G, 202G → A single nucleotide polymorphisms (SNPs) among HIV patients attending care at a teaching hospital in Ghana and determine if the SNPs are associated with a deranged hematological profile. Results: Out of the 200 participants, 13.0% (26/200) were G6PD deficient based on the methemoglobin reductase technique, with 1.5% (3/200) and 11.5% (23/200) presenting with partial and full enzyme defect, respectively. Among the 13.0% participants with G6PD deficiency, 19.2% (5/26), 30.8% (8/26), and 19.2% (5/26) presented with 376A → G only [Enzyme activity (EA): 1.19 U/g Hb], 202G → A only [EA: 1.41 U/g Hb], and G202/A376 SNPs [EA: 1.14 U/g Hb], respectively. Having the 376A → G mutation was associated with lower red blood cell (RBC) count [3.38 x106/µL (3.16-3.46) vs 3.95 x106/µL (3.53-4.41), p=0.010], but higher mean cell volume (MCV) [102.90 (99.40-113.0) vs 91.10 fL (84.65-98.98), p=0.041] and mean cell hemoglobin (MCH) [33.70 pg (32.70-38.50) vs 30.75 pg (28.50-33.35), p=0.038] whereas possessing the 202G → A mutation was associated with higher MCV only [98.90 fL (90.95-102.35) vs 91.10 fL (84.65-98.98), p=0.041] compared to G6PD non-deficient participants.

scholarly journals APPLICATION OF THE REAL – TIME PCR FOR THE DETECTION OF CYP2C19*2 SINGLE NUCLEOTIDE POLYMORPHISM IN PATIENS WITH GASTRITIS AT TRA VINH GENERAL HOSPITAL

2018 ◽  
Vol 1 (32) ◽  
pp. 39-43
Author(s):  
Duy Anh Ngo ◽  
Trung Thien Tran ◽  
Anh Tuan Nguyen ◽  
Thanh Tien Nguyen
Keyword(s):  
New York ◽  
General Hospital ◽  
Cross Sectional Study ◽  
Nucleotide Polymorphisms ◽  
Sectional Study ◽  
Nucleotide Polymorphism ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Taqman Probes ◽  
Pcr Method

The aim of this study is to identify CYP2C19*2 single nucleotide polymorphisms in patients with gastritis at TraVinh General Hospital. A cross-sectional study was conducted in 280 endoscopic gastric biopsy samples of patients with gastritis at TraVinh General Hospital. CYP2C19*2 genotypes were determined by realtime PCR method using TaqMan probes. Data were stored and analyzed by IBM SPSS Statistic (version 20.0; Armonk, New York, USA) and Excel 2010. The prevallelece of GG, AG and AA genotypes were 51.8, 39.6 and 8.6% correspondingly. The ratio of allele G and A were 0.716 and 0.284 respectively. The correlation of CYP2C19*2 polymorphisms with age (p=0.891), gender (p=0.652) was not significantly distinguished

Lack of Association between Eotaxin-1 Gene Polymorphisms and Nasal Polyposis

2011 ◽  
Vol 145 (6) ◽  
pp. 1036-1039 ◽  
Author(s):  
Suna Ekinci ◽  
Selim S. Erbek ◽  
Erkan Yurtcu ◽  
Feride I. Sahin
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Gene Polymorphisms ◽  
Nasal Polyposis ◽  
Cross Sectional Study ◽  
Nucleotide Polymorphisms ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Association Coefficient ◽  
Tertiary Referral Center ◽  
Polymerase Chain

Objective. To examine whether there is an association of eotaxin-1 gene polymorphisms with nasal polyposis (NP). Study Design. Cross-sectional study. Setting. Tertiary referral center. Subjects and Methods. The study group included 85 patients with NP and 93 controls without sinonasal disease. Genotypes of eotaxin-1 (−384 A>G and +67 G>A) were identified by restriction fragment length polymorphism analyses after polymerase chain reaction. Results. The −384 A>G and +67 G>A single nucleotide polymorphisms were higher in patients with NP than in controls ( P = .044 and P = .019, respectively). However, their relation was statistically poor (association coefficient = 0.18). Consistent with this result, comparisons of allele frequencies for both single nucleotide polymorphisms were not significantly different (−384 A>G, P = .164; +67 G>A, P = .144). Conclusion. In this study, eotaxin-1 −384 A>G or 67 G>A genotypes were not associated with susceptibility to NP.

scholarly journals Single Nucleotide Polymorphisms in COL1A2 Gene and Dental Fluorosis Among 4 and 8-Year-Old Nigerian Children

2020 ◽  
pp. 1-6
Author(s):  
Ruth Valentine ◽  
Olushola Ibiyemi ◽  
Anne Maguire ◽  
Fatemeh Vida Zohoori ◽  
Simon Kometa ◽  
...  
Keyword(s):  
Drinking Water ◽  
Single Nucleotide Polymorphisms ◽  
Dental Fluorosis ◽  
Nucleotide Polymorphisms ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Nigerian Children ◽  
Col1a2 Gene ◽  
Cooking Water ◽  
Study Participants

Aim: To determine the association between single nucleotide polymorphisms (SNPs) within the COL1A2 gene and dental fluorosis among 4- and 8-year-old Nigerian children. Methods: A cross-sectional study was undertaken among 125 four and eight-year-old Nigerian children living in naturally fluoridated areas of Ibadan, Nigeria. Drinking and cooking water samples were collected for F analysis. Buccal mucosa swabs were collected from all children and genomic DNA extracted. Presence or absence of the SNP within the COL1A2 gene was identified by PCR and DNA sequencing for 70 of the participants. Results: The median (minimum, maximum) F concentration of drinking and cooking water were 0.05 (<0.1, 3.0) mg/L and 0.01 (<0.1, 4.0) mg/L respectively. The majority of the study participants (52.9%) were heterozygous for the SNP. There was a statistically significant association between F concentration in drinking water and the occurrence of dental fluorosis (p=0.04). F concentration in drinking water was the only statistically significant predictor of dental fluorosis (p=0.03, OR=3.64(CI=1.11-11.94)) after adjusting for F concentration in cooking water and SNPs. The risk of dental fluorosis tended to increase with the presence of SNPs AA and AC (RR > 1) but this association was not statistically significant. Conclusion: The majority of the study participants had the heterozygote SNP AC genotype of COL1A2 gene. F concentration in drinking water was the only statistically significant predictor of dental fluorosis. The risk of dental fluorosis tended to increase with the presence of SNPs AA and AC (RR > 1) but was not statistically significant.

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