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

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.

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

10.21203/rs.2.22175/v1 ◽

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.

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

Scientific Journal of Tra Vinh University ◽

10.35382/18594816.1.32.2018.57 ◽

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

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

Otolaryngology ◽

10.1177/0194599811417359 ◽

2011 ◽

Vol 145 (6) ◽

pp. 1036-1039 ◽

Cited By ~ 2

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.

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Concordance between fasting plasma glucose and HbA1c in the diagnosis of diabetes in black South African adults: a cross-sectional study

BMJ Open ◽

10.1136/bmjopen-2020-046060 ◽

2021 ◽

Vol 11 (6) ◽

pp. e046060

Author(s):

Alisha N Wade ◽

Nigel J Crowther ◽

Shafika Abrahams-Gessel ◽

Lisa Berkman ◽

Jaya A George ◽

...

Keyword(s):

Insulin Resistance ◽

South African ◽

Plasma Glucose ◽

Fat Distribution ◽

Cross Sectional Study ◽

Secondary Outcome ◽

Sectional Study ◽

South African Population ◽

Cross Sectional ◽

Black South African

ObjectivesWe investigated concordance between haemoglobin A1c (HbA1c)-defined diabetes and fasting plasma glucose (FPG)-defined diabetes in a black South African population with a high prevalence of obesity.DesignCross-sectional study.SettingRural South African population-based cohort.Participants765 black individuals aged 40–70 years and with no history of diabetes.Primary and secondary outcome measuresThe primary outcome measure was concordance between HbA1c-defined diabetes and FPG-defined diabetes. Secondary outcome measures were differences in anthropometric characteristics, fat distribution and insulin resistance (measured using Homoeostatic Model Assessment of Insulin Resistance (HOMA-IR)) between those with concordant and discordant HbA1c/FPG classifications and predictors of HbA1c variance.ResultsThe prevalence of HbA1c-defined diabetes was four times the prevalence of FPG-defined diabetes (17.5% vs 4.2%). Classification was discordant in 15.7% of participants, with 111 individuals (14.5%) having HbA1c-only diabetes (kappa 0.23; 95% CI 0.14 to 0.31). Median body mass index, waist and hip circumference, waist-to-hip ratio, subcutaneous adipose tissue and HOMA-IR in participants with HbA1c-only diabetes were similar to those in participants who were normoglycaemic by both biomarkers and significantly lower than in participants with diabetes by both biomarkers (p<0.05). HOMA-IR and fat distribution explained additional HbA1c variance beyond glucose and age only in women.ConclusionsConcordance was poor between HbA1c and FPG in diagnosis of diabetes in black South Africans, and participants with HbA1c-only diabetes phenotypically resembled normoglycaemic participants. Further work is necessary to determine which of these parameters better predicts diabetes-related morbidities in this population and whether a population-specific HbA1c threshold is necessary.

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