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Familial Aggregation of Chronic Obstructive Pulmonary Disease
Published in Stephen D. Litwin, Genetic Determinants of Pulmonary Disease, 2020
Bernice H. Cohen, Gary A. Chase
Other faulty assumptions concerning either the study sample or its comparability with control series can lead to fundamental misinterpretations. Often ignored in tests of specific genetic hypotheses is the fact that the Hardy-Weinberg principle, and all statistical tests of specific genetic hypotheses based upon it, assumes random mating with regard to the characteristic studied, and further, equal fertility of different genotypes and mating types, as well as the absence of selection, gene flow, and mutation.
The obesity associated FTO gene polymorphism and the risk of preeclampsia in Iranian women: A case–control study
Published in Hypertension in Pregnancy, 2023
Ghasem Azizi-Tabesh, Hossein Sadeghi, Arezoo Farhadi, Mohammad Foad Heidari, Aghdas Safari, Mehdi Shakouri Khomartash, Javad Behroozi, Saeid Doaei, Maryam Gholamalizadeh
The genotypes of the FTO rs9939609 SNP were analyzed using TP-ARMS-PCR and subsequent gel electrophoresis. An electropherogram of different genotypes is shown in Figure 1. Three genotypes were detected based on their band sizes. The heterozygous (AT) genotype showed three bands: 194 bp, 278 bp, and 429 bp. Homozygous (TT) genotype revealed two bands: 278 bp and 429 bp, as well as homozygous (AA) genotype indicated by two bands: 194 bp and 429 bp. The results obtained from genotyping using TP-ARMS-PCR were in concordance with the sequencing results Figure 2. In contrast to PE patients, healthy controls had a genotype distribution that was consistent with the Hardy-Weinberg principle. In women with PE, homozygous genotype AA of rs9939609 is statistically significantly less common than in controls: 2.3 versus 15.2%. The distribution of genotypes of the studied SNP is graphically illustrated in Figure 3. The results showed that FTO rs9939609 was associated with PE in codominant, dominant, and recessive genetic models. The recessive model with the lowest AIC and BIC values was considered the best-fit model (Table 3). Binary logistic regression analysis showed that the AA genotype of rs9939609 exhibited a protective role against PE (adjusted OR = 0.046, 95% CI: 0.004-0.469, p = 0.009) after adjusting for age, BMI, and gestational age (Table 4).
Analysis of the Influence of Interleukin-1β Gene Polymorphism on Gastric Inflammatory Response and Precancerous Lesions Development in Patients with Functional Dyspepsia
Published in Immunological Investigations, 2020
Tássia Flores Rech, Luiz Edmundo Mazzoleni, Felipe Mazzoleni, Carlos Fernando de Magalhães Francesconi, Guilherme Becker Sander, Rafael Tomoya Michita, Débora Dreher Nabinger, Laura Renata de Bona, Tobias Cancian Milbradt, Eduardo André Ott, Helenice Pankowski Breyer, Gelline Maria Haas, Ane Paula Canevese, Jonathas Stifft, Daniel Simon
Observed genotype frequencies were compared with expected rates by the Hardy–Weinberg principle using the chi-square test. Genotype and allele frequencies were calculated by direct counting, and comparisons between groups were performed by chi-square tests. Bonferroni correction was applied for multiple comparisons and considered statistically significant if Bonferroni adjusted P-value was <0.006. Comparisons took into account the severity of inflammation and activity, as well as the presence/absence of AG and IM in three regions of stomach: corpus, incisura, and antrum, analyzed in accordance with three genetic models: 1) considering the three genotypes separately (CC, CT, and TT); 2) dominant C allele model (CC+CT vs. TT); and 3) dominant T allele model (TT+CT vs. CC). Data were analyzed using SPSS, version 18.0 (SPSS Inc., Chicago, IL, USA), and WinPepi version 11.43 (Abramson, 2011).
An association between the rs1799853 and rs1057910 polymorphisms of CYP2C9, the rs4244285 polymorphism of CYP2C19 and the prevalence rates of drug-resistant epilepsy in children
Published in International Journal of Neuroscience, 2021
Marianna Makowska, Beata Smolarz, Magdalena Bryś, Ewa Forma, Hanna Romanowicz
The percentual incidence rates of the genotypes and alleles of the studied polymorphisms were calculated for CYP2C9 and CYP2C19 genes. Then the observed values were compared with the expected values, the latter being calculated with the use of the Hardy-Weinberg principle. The law is demonstrated by the following equation: p2 + 2pq + q2 = 1. The letters p and q indicate the frequency of occurrence of the particular alleles of a given gene. The applied analysis of data demonstrated a genetic balance of the evaluated population with regards to the studied polymorphisms, what was in line with the Hardy-Weinberg principle, taking into account the expected and observed data.