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SAA1 Gene Analysis in Finnish Patients with AA Amyloidosis
Published in Gilles Grateau, Robert A. Kyle, Martha Skinner, Amyloid and Amyloidosis, 2004
C. Terai, H. Kaneko, M. Moriguchi, Y. Koseki, H. Kajiyama, N. Kamatani, S. Tiitinen, K. Kaarela, M. Hurme, C. P. J. Maury
We studied 54 adult Finnish patients with seropositive RA and biopsy-proven amyloidosis (RA+A), 54 matched Finnish RA patients without amyloidosis (RA), and 100 Finnish blood donors (Co). For comparison of the haplotype estimation, 59 Japanese RA patients with amyloidosis and 58 Japanese controls were studied.
The Effect of Five Single Nucleotide Polymorphisms on Hb F Variation of β-Thalassemia Traits and Hematologically Normal Individuals in Southeast Turkey
Published in Hemoglobin, 2020
Ahmet Genc, Deniz Tastemir Korkmaz, Suleyman Bayram, Eyyup Rencuzogullari
Data handling and management as well as statistical analyses were performed by the Statistical Package for Social Science version 16.0 software package (SPSS Inc., Chicago, IL, USA). Student’s test (for continuous variables) and Pearson’s χ2 test (for categorical variables) were used to compare the differences in the distributions of demographic and clinical characteristics as well as genotype frequencies of five different SNP regions [rs4671393 (G>A), rs766432 (A>C), rs9402686 (G>A), rs28384513 (T>G), rs1609812 (A>G)] among β-thal trait, HPFH and control groups. Relations among the five different SNP regions and β-thal trait and HPFH, haplotype estimation and the corresponding odds ratio (OR) and 95% confidence interval (95% CI) values, and linkage disequilibrium (LD) was analyzed using online tool SNPStats: http://bioinfo.iconcologia.net/snpstats/start.htm [33] To determine the effects of the five different SNP regions on high Hb F level between β-thal trait and HPFH groups, OR and 95% CI were calculated by an unconditional logistic regression model adopting codominant, dominant, recessive, over dominant, and log-additive models of inheritance. To prefer the inheritance model that best fits the logistic regression data, Akaike’s information criterion and Bayesian information criterion were used. A two-sided p value of less than 0.05 were regarded as the statically significant level.
Adiponectin (ADIPOQ) gene variants and haplotypes in Saudi Arabian women with polycystic ovary syndrome (PCOS): a case–control study
Published in Gynecological Endocrinology, 2020
Intissar Ezzidi, Nabil Mtiraoui, Mohammed Eltigani Mohmmed Ali, Aqeel Al Masoudi, Faisel Abu Duhier
ADIPOQ haplotype estimation analysis reveals a thorough differentiation of two out haplotypes out of fifteen showing significant associations with PCOS. There was a higher frequency of haplotype 21211 in PCOS group (17%) than in control group (8.8%) with an OR = 2.16 [1.22–3.82] 95% CI indicating the potential susceptibility of this haplotype containing the minor G allele of rs2241766 (+45 T/G) and minor G allele of rs2241767 (+349) A/G on PCOS risk (haplotype with double minor allele), thus, prompting an eventual speculation of possible epistatic interaction between SNPs in defining overall PCOS risk. It is noteworthy that the intronic variant rs2241767 (+349 A/G), which minor allele is present on the susceptible haplotype, is interestingly associated with an increase in coronary artery disease [42] and T2D among Tunisian and Han Chinese [43]. It's documented that this variant may exert an effect on ADIPOQ gene expression by inhibiting or repressing RNA translation or enhancing alternate splicing of RNA transcripts [44]. Thus, the potential importance of minor alleles on this haplotype on PCOS risk is unlikely not yet elucidated and larger replication studies are warranted.
The Role of Genetic Variants (rs869109213 and rs2070744) Of the eNOS Gene and BglII in the α2 Subunit of the α2β1 Integrin Gene in Diabetic Retinopathy in a Tunisian Population
Published in Seminars in Ophthalmology, 2019
Fatma Midani, Zohra Ben Amor, Mohamed Ali El Afrit, Amani Kallel, Moncef Feki, Hayet Soualmia
Statistical analysis was performed using the Statistical Package for Social Sciences (SPSS 18.0 for Windows, SPSS Inc., Chicago, IL, USA). The student t-test was used for continuous variables and the χ2 test was used for categorical variables. Hardy-Weinberg equilibrium was tested using χ2 test analysis. The association of 27-bp VNTR 4b4a and (−786T/C) eNOS polymorphisms and the BglII polymorphism in the α2 subunit of the α2β1 integrin gene with the risk of DR were examined by logistic regression analysis, and the odds ratio (OR) with the 95% confidence interval (CI) were determined. The effect of a genotype on baseline characteristics was tested using one-way ANOVA. Linkage disequilibrium (LD) was calculated using Haploview, version 4.2. Haplotype estimation frequencies and univariate logistic regression analyses were performed using Thesias, version 3.1.The power of the study for all SNPs was determined using Power v 3.0.0. The data were expressed as mean ± standard deviation (SD) and the results were considered statistically significant when the p-value was less than 0.05.