Polymorphism

Relationship between dilated cardiomyopathy and the E23K and I337V polymorphisms in the Kir6.2 subunit of the KATP channel

H. L. Xi, Liu, J. F., Li, L., and Wan, J., Relationship between dilated cardiomyopathy and the E23K and I337V polymorphisms in the Kir6.2 subunit of the KATP channel, vol. 12, pp. 4383-4392, 2013.

ATP-sensitive potassium channels play an important role in myocardial electrical activity. Genetic disruption of these channels predisposes the myocardium to cardiac diseases. Herein we investigated whether two polymorphisms, E23K and I337V, located in the Kir6.2 subunit of ATP-sensitive potassium channels are associated with dilated cardiomyopathy (DCM) in a Chinese population. Blood was collected from DCM patients and controls. DNA was extracted for polymerase chain reaction, which was followed by DNA sequencing.

Association of NPP1 polymorphism with postoperative progression of ossification of the posterior longitudinal ligament in Chinese patients

Z. He, Zhu, H., Ding, L., Xiao, H., Chen, D., and Xue, F., Association of NPP1 polymorphism with postoperative progression of ossification of the posterior longitudinal ligament in Chinese patients, vol. 12, pp. 4648-4655, 2013.

Ossification of the posterior longitudinal ligament (OPLL) is a condition of the spine that can cause paralysis by compressing the spinal cord. The aim of this study was to evaluate the possible role of nucleotide pyrophosphatase phosphodiesterase 1 gene (NPP1) polymorphism in the etiology and pathology of the OPLL in Chinese patients. DNA from patients with OPLL (N = 95) and without OPLL (N = 90) were genotyped for 4 NPP1 single-nucleotide polymorphisms (SNPs): A533C, C973T, IVS15-14T→C, and IVS20-11delT.

Association of -238G/A and -863C/A polymorphisms in the TNF-α gene with chronic obstructive pulmonary disease based on a meta-analysis

K. Cui, Ge, X. Y., and Ma, H. L., Association of -238G/A and -863C/A polymorphisms in the TNF-α gene with chronic obstructive pulmonary disease based on a meta-analysis, vol. 12, pp. 4981-4989, 2013.

Chronic obstructive pulmonary disease (COPD) is a chronic systemic inflammatory disease; increasing evidence indicates that the TNF-α polymorphism is associated with progression of this disease. Few studies have focused upon association between TNF-α -238G/A or -863C/A polymorphism and COPD risk. Reported associations have been controversial because of small sample size and varied study design among the different studies. We performed a meta-analysis to assess the correlation of these two polymorphisms in the TNF-α gene with COPD risk.

Interleukin-1β +3954 polymorphisms and risk of external apical root resorption in orthodontic treatment: A meta-analysis

F. - L. Wu, Wang, L. - Y., Huang, Y. - Q., Guo, W. - B., Liu, C. - D., and Li, S. - G., Interleukin-1β +3954 polymorphisms and risk of external apical root resorption in orthodontic treatment: A meta-analysis, vol. 12, pp. 4678-4686, 2013.

The purpose of this meta-analysis was to determine whether genetic variants of the interleukin-1β[+3954 C>T (rs1143634)] (IL-1β +3954 C>T) gene polymorphisms were associated with orthodontic external apical root resorption (EARR). A meta-analysis was carried out using data entered into the PubMed and Embase electronic databases before October 5, 2012. A total of 7 studies were identified for meta-analysis. The strength of the relationship between IL-1β +3954 C>T polymorphism and the risk of EARR was assessed using odds ratio (OR).

Meta-analysis demonstrates lack of an association of microsomal epoxide hydrolase 1 polymorphisms with esophageal cancer risk

J. J. Hu, Wang, Z. T., and Li, B., Meta-analysis demonstrates lack of an association of microsomal epoxide hydrolase 1 polymorphisms with esophageal cancer risk, vol. 12, pp. 4540-4548, 2013.

Epoxide hydrolases metabolize exogenous chemicals, including carcinogens such as polycyclic aromatic hydrocarbons. The relationship between microsomal epoxide hydrolase 1 (EPHX1) polymorphisms and esophageal cancer risk has been investigated in various ethnic populations, but the results have been contradictory. We investigated the association of EPHX1 Tyr113His and His139Arg polymorphisms with esophageal cancer via a comprehensive meta-analysis. Publications before August 20, 2012 were included.

Association of transforming growth factor-beta 1 gene polymorphism with genetic susceptibility to ossification of the posterior longitudinal ligament in Korean patients

I. B. Han, Ropper, A. E., Jeon, Y. J., Park, H. S., Shin, D. A., Teng, Y. D., Kuh, S. - U., and Kim, N. - K., Association of transforming growth factor-beta 1 gene polymorphism with genetic susceptibility to ossification of the posterior longitudinal ligament in Korean patients, vol. 12, pp. 4807-4816, 2013.

Ossification of the posterior longitudinal ligaments (OPLL) has been considered to be associated with abnormalities of bone metabolism, and transforming growth factor-β1 (TGF-β1) has been demonstrated to affect the bone remodeling process. We investigated two SNPs of the TGF-β1 promoter (-509C>T; rs1800469) and exon 1 (869T>C; rs1982073) in 298 Koreans (98 patients with OPLL and 200 control subjects). The promoter SNP -509C>T was determined by PCR and RFLP, and the TaqMan probe assay was used to determine 869T>C polymorphism genotypes.

Genetic variability of Dactylopius opuntiae (Hemiptera, Dactylopiidae) on forage cactus in northeast Brazil

D. M. P. Silva, Mergulhão, A. Cdo E. S., de Medeiros, L. V., Figueiredo, M. V. B., and Burity, H. A., Genetic variability of Dactylopius opuntiae (Hemiptera, Dactylopiidae) on forage cactus in northeast Brazil, vol. 12, pp. 5236-5246, 2013.

The carmine cochineal Dactylopius opuntiae is a key pest in productive fields of forage cactus in Pernambuco, Brazil. Species identification by means of molecular markers assists in understanding the genetic profile, underpins morphological characterization, and supports the monitoring of populations in integrated management programs designed to control this pest. We evaluated the genetic variability of natural populations of D. opuntiae.

Isolation and characterization of polymorphic microsatellite loci in the swimming crab Portunus trituberculatus (Portunidae)

L. P. Ren, Qin, Y., Li, X. C., Sun, Y. N., and Wang, R. X., Isolation and characterization of polymorphic microsatellite loci in the swimming crab Portunus trituberculatus (Portunidae), vol. 12, pp. 5911-5915, 2013.

The Swimming crab Portunus trituberculatus (Portunidae) is an important economically food species. To provide molecular markers for P. trituberculatus, we isolated and characterized polymorphic microsatellite markers. We developed a 5'-anchored genomic library of P. trituberculatus DNA, and derived 45 positive clones. We designed 30 pairs of primers from the sequences of these clones, and 10 of which were polymorphic. The loci were screened in 31 P. trituberculatus individuals; the number of alleles ranged from 2 to 5.

Polymorphism of SREBP1 is associated with beef fatty acid composition in Simmental bulls

L. Xu, Zhang, L. P., Yuan, Z. R., Guo, L. P., Zhu, M., Gao, X., Gao, H. J., Li, J. Y., and Xu, S. Z., Polymorphism of SREBP1 is associated with beef fatty acid composition in Simmental bulls, vol. 12, pp. 5802-5809, 2013.

The sterol regulatory element binding factor 1 gene (SREBP1) plays an important role in the biosynthesis of fatty acids and cholesterol, and in lipid metabolism. The objective of this study was to investigate the effect of genetic polymorphisms of SREBP1 on the fatty acid composition of muscle and carcass traits in Simmental bulls and Snow Dragon black cattle. The 84-bp insertion/deletion (indel) in intron 5 of the bovine SREBP1 gene was genotyped by polymerase chain reaction to investigate its associations with traits.

Effects of genetic variants of CCR5 chemokine receptors on oral squamous cell carcinoma

C. R. Tanyel, Cincin, Z. B., Gokcen-Rohlig, B., Bektas-Kayhan, K., Unur, M., and Cakmakoglu, B., Effects of genetic variants of CCR5 chemokine receptors on oral squamous cell carcinoma, vol. 12, pp. 5714-5720, 2013.

We aimed to evaluate the effect of genetic variants of the chemokine C-C motif receptor (CCR5) in the pathogenesis of oral squamous cell carcinoma (OSCC). A total of 127 patients diagnosed with OSCC and 104 healthy individuals were included in the study. The polymorphisms CCR5 59029 and CCR5-delta32 were assessed with the polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP) method from peripheral blood samples of both groups. There was a statistically significant difference between the control and patient groups for CCR5 59029 A/G genotypes (P 0.05).

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