Allele and genotype frequencies of genes relevant to anti-epileptic drug therapy in Mexican-Mestizo healthy volunteers

2016 ◽  
Vol 17 (17) ◽  
pp. 1913-1930 ◽  
Author(s):  
Ingrid Fricke-Galindo ◽  
Alberto Ortega-Vázquez ◽  
Nancy Monroy-Jaramillo ◽  
Pedro Dorado ◽  
Helgi Jung-Cook ◽  
...  
2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
S. A. Zavaleta-Muñiz ◽  
B. T. Martín-Márquez ◽  
L. Gonzalez-Lopez ◽  
N. G. Gonzalez-Montoya ◽  
M. L. Díaz-Toscano ◽  
...  

Objective. There is a lack of information about the genotype frequencies of IL-6 −174G/C and −572G/C polymorphisms in Mexicans with rheumatoid arthritis (RA). Therefore, the aim of this study was to evaluate the association of the IL-6 −174G/C and −572G/C polymorphisms in Mexican mestizo with RA.Methods. We included 137 patients with RA and 102 healthy controls. Patients were assessed for clinical characteristics. IL-6 −174G/C and −572G/C polymorphisms were genotyped using PCR-RFLP analysis. Allele and genotype frequencies and the Hardy-Weinberg equilibrium were computed. Odds ratios (ORs) were computed to identify the risk for RA associated with the presence of GG genotype in comparison with the GC or CC genotypes.Results. The genotype −174GG occurred at a higher frequency in cases and controls (77.4% versus 78.4%,P=0.845). We found similar results for the genotype −572GG (54% in patients versus 60.8% in controls,P=0.295).Conclusions. This is the first study to evaluate the association of −174G/C and −572G/C polymorphisms of the IL-6 gene with RA in Mexican mestizo patients. These two polymorphisms were not associated with RA in the studied sample. Additional studies are required to evaluate if these IL-6 polymorphisms have relevance to the development of more severe disease.


2021 ◽  
Author(s):  
Jie Liu ◽  
Wenjing Zhu

Abstract Background: Chronic obstructive pulmonary disease (COPD) is the most common chronic respiratory disease which is expected to become the third leading cause of death worldwide in 2030. Series of susceptibility genes and single nucleotide polymorphism (SNPs) play an important role in the occurrence and development of COPD.Methods: In our study, 98 COPD patients and 90 healthy volunteers were enrolled. The +869 SNP (SNP, Single Nucleotide Polymorphisms) of TGF-β1 was detected in 98 COPD patients and 90 healthy volunteers by PCR-DNA sequencing. The effects of different genotypes of +869 locus on the susceptibility of COPD, pulmonary function and airflow limitation of COPD patients were analyzed.Results: Allele C of +869 locus was associated with the susceptibility of COPD (OR:1.913, 95% CI: 1.251-2.926). The predicted value of FEV1% (FEV1, Forced Expiratory Volume in One Second) in patients with CC of +869 locus was significantly lower than that in patients with TT (P < 0.05). The genotype frequencies of CC, CT and TT were 6.5%, 58.7% and 34.8% in Mild-to-Moderate airflow restriction patients. In severe airflow restriction patients, the genotype frequencies were CC 23.1%, CT 57.7% and TT 19.2%. The distribution of CC genotype in severe airflow restriction COPD patients was significantly higher than that in Mild-to-Moderate airflow restriction COPD patients (P = 0.037). Moreover, the frequency of C allele was significantly higher in patients with severe airflow restriction than that patients with Mild-to-Moderate airflow restriction (P = 0.024).Conclusions: The SNP of +869 T/C in TGF-β1 is closely related to the susceptibility of COPD and the airflow restriction of COPD patients.


2017 ◽  
Vol 2017 ◽  
pp. 1-8 ◽  
Author(s):  
C. A. Nava-Valdivia ◽  
A. M. Saldaña-Cruz ◽  
E. G. Corona-Sanchez ◽  
J. D. Murillo-Vazquez ◽  
M. C. Moran-Moguel ◽  
...  

Osteoporosis (OP) is highly prevalent in rheumatoid arthritis (RA) and is influenced by genetic factors. Single-nucleotide polymorphism (SNP) rs2073618 in the TNFRSF11B osteoprotegerin (OPG) gene has been related to postmenopausal OP although, to date, no information has been described concerning whether this polymorphism is implied in abnormalities of bone mineral density (BMD) in RA. We evaluated, in a case-control study performed in Mexican-Mestizo women with RA, whether SNP rs2073618 in the TNFRSF11B gene is associated with a decrease in BMD. RA patients were classified as follows: (1) low BMD and (2) normal BMD. All patients were genotyped for the rs2073618 polymorphism by PCR-RFLP. The frequency of low BMD was 74.4%. Higher age was observed in RA with low BMD versus normal BMD (62 and 54 years, resp.; p<0.001). Worse functioning and lower BMI were observed in RA with low BMD (p=0.003 and p=0.002, resp.). We found similar genotype frequencies in RA with low BMD versus RA with normal BMD (GG genotype 71% versus 64.4%, GC 26% versus 33%, and CC 3% versus 2.2%, resp.; p=0.6). We concluded that in Mexican-Mestizo female patients with RA, the rs2073618 polymorphism of the TNRFS11B gene is not associated with low BMD.


2002 ◽  
Vol 44 (3) ◽  
pp. 247-253 ◽  
Author(s):  
Hirokazu Tsukahara ◽  
Kouki Kimura ◽  
Yukiko Todoroki ◽  
Yusei Ohshima ◽  
Masahiro Hiraoka ◽  
...  

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