Gene

Association of liver X receptor α (LXRα) gene polymorphism and ischemic stroke

H. X. Wang, Zhang, K., Zhao, L., Tang, J. W., Gao, L. Y., and Wei, Z. P., Association of liver X receptor α (LXRα) gene polymorphism and ischemic stroke, vol. 14, pp. 118-122, 2015.

We examined the relationship between the liver X receptor a gene (LXRα) rsl2221497 polymorphism and the susceptibility to ischemic stroke in a Chinese population. The polymerase chain reaction-restriction fragment length polymorphism technique was used to detect the genotype of rsl2221497 in the LXRαgene of 300 stroke patients and 300 healthy control subjects. The chi-square test was used to analyze the genotype distribution between the 2 groups.

Association between the LXRα polymorphism and stroke in a Chinese population

J. S. Yang, Hao, J. J., Wang, S. S., Zhu, Z. F., Fang, Q., Bao, H., and Zhang, H. P., Association between the LXRα polymorphism and stroke in a Chinese population, vol. 14, pp. 1757-1762, 2015.

We examined the relationship between the liver X receptor α gene (LXRα) polymorphism and the susceptibility to stroke. We utilized the single fluorescent-labeled probe technique to detect the genotype of rs12221497 in the LXRα gene in 400 stroke patients and 400 healthy control subjects. The difference in genotype distribution between the 2 groups was analyzed using the chi-square test. Serum lipids and glucose levels between the different genotypes were also compared.

Type II deiodinase polymorphisms and serum thyroid hormone levels in patients with mild cognitive impairment

M. Luo, Zhou, X. H., Zou, T., Keyim, K., and Dong, L. M., Type II deiodinase polymorphisms and serum thyroid hormone levels in patients with mild cognitive impairment, vol. 14, pp. 5407-5416, 2015.

We investigated type II deiodinase (DIO2) polymorphisms and serum thyroid hormone levels in subjects with mild cognitive impairment (MCI) in a Uygur population. We studied the DIO2 Thr92Ala (rs225014) and ORFa-Gly3Asp (rs12885300) polymorphisms of 129 unrelated MCI cases and 131 matched controls. All subjects were genotyped using SNaPshot SNP genotyping assays. Serum thyroid hormone levels were measured by radioimmunoassay. Levels of serum triiodothyronine and thyroxine in the MCI group were significantly lower than those in the control group.

 Association between β1 adrenergic receptor gene Arg389Gly polymorphism and risk of heart failure: a meta-analysis

S. T. Ma, Zhao, W., Liu, B., Jia, R. Y., Zhao, C. J., and Cui, L. Q.,  Association between β1 adrenergic receptor gene Arg389Gly polymorphism and risk of heart failure: a meta-analysis, vol. 14, pp. 5922-5929, 2015.

Numerous studies have evaluated the association between Arg389Gly polymorphism in the β1 adrenergic receptor gene and heart failure risk. However, the specific association is still controversial. We performed a meta-analysis of all case-control studies that evaluated the association between Arg389Gly polymorphism and heart failure in humans. Studies were identified in the PubMed, Embase, and China National Knowledge Infrastructure databases. Two reviewers independently assessed the studies.

Relationship between genetic polymorphisms of DNA ligase 1 and non-small cell lung cancer susceptibility and radiosensitivity

H. Tian, He, X., Yin, L., Guo, W. J., Xia, Y. Y., and Jiang, Z. X., Relationship between genetic polymorphisms of DNA ligase 1 and non-small cell lung cancer susceptibility and radiosensitivity, vol. 14, pp. 7047-7052, 2015.

The aim of this study was to examine the relationship between genetic polymorphisms in DNA ligase 1 (LIG1) and non-small cell lung cancer (NSCLC) susceptibility and radiosensitivity in a Chinese population. This was a case-control study that included 352 NSCLC patients and 448 healthy controls. Polymerase chain reaction-restriction fragment length polymorphism analysis was conducted to detect HaeIII polymorphisms in exon 6 of the LIG1 gene in this popula­tion.

Intracranial aneurysm risk factor genes: relationship with intracranial aneurysm risk in a Chinese Han population

L. T. Zhang, Wei, F. J., Zhao, Y., Zhang, Z., Dong, W. T., Jin, Z. N., Gao, F., Gao, N. N., Cai, X. W., Li, N. X., Wei, W., Xiao, F. S., Yue, S. Y., Zhang, J. N., Yang, S. Y., Li, W. D., and Yang, X. Y., Intracranial aneurysm risk factor genes: relationship with intracranial aneurysm risk in a Chinese Han population, vol. 14, pp. 6865-6878, 2015.

Few studies have examined the genes related to risk fac­tors that may contribute to intracranial aneurysms (IAs). This study in Chinese patients aimed to explore the relationship between IA and 28 gene loci, proven to be associated with risk factors for IA. We recruited 119 patients with aneurysms and 257 controls. Single factor and logistic regression models were used to analyze the association of IA and IA rup­ture with risk factors. Twenty-eight single nucleotide polymorphisms (SNPs) in 22 genes were genotyped for the patient and control groups.

Novel non-synonymous polymorphisms in the COX-1 gene in Turkish pediatric patients with cardiovascular anomalies

I. Coskun, Colkesen, Y., Ayik, F., Berdeli, A., and Atay, Y., Novel non-synonymous polymorphisms in the COX-1 gene in Turkish pediatric patients with cardiovascular anomalies, vol. 13, pp. 262-268, 2014.

Variation in the gene encoding cyclooxygenase-1 (COX-1) is involved in the process of aspirin resistance. This study investigated the genetic variations in the COX-1 gene. The 4 coding regions of the human COX-1 gene in 90 pediatric patients (median age of 6.5 months, 55% males) with cardiovascular anomalies were screened using DNA sequencing. Twenty coding-region variants causing amino acid substitutions as well as 2 new non-synonymous polymorphisms were identified. All variants were compared with an independent Caucasian population (N = 24 unrelated individuals).

Lack of association between a common polymorphism of the endothelial lipase gene and early-onset coronary artery disease in a Chinese Han population

G. J. Cai, He, G. P., Huang, Z. Y., and Qi, C. P., Lack of association between a common polymorphism of the endothelial lipase gene and early-onset coronary artery disease in a Chinese Han population, vol. 13, pp. 1059-1069, 2014.

A growing body of evidence suggests that the 584C/T polymorphism in the endothelial lipase (EL) gene contributes to the process of coronary artery disease (CAD). The present study aimed to reveal the potential relationship between the EL 584C/T gene polymorphism and early-onset CAD, CAD severity, and lipid levels in a Chinese Han population. Participants comprised 135 early-onset CAD patients and 166 controls. EL 584C/T genotypic and allelic frequencies were detected by PCR.

Relationship between the cholesterol ester transfer protein TaqIB polymorphism and the lipid-lowering effect of atorvastatin in patients with coronary atherosclerotic heart disease

J. Li, Zhang, L., Xie, N. Z., Deng, B., Lv, L. X., and Zheng, L. Q., Relationship between the cholesterol ester transfer protein TaqIB polymorphism and the lipid-lowering effect of atorvastatin in patients with coronary atherosclerotic heart disease, vol. 13, pp. 2140-2148, 2014.

This study aimed to investigate the relationship between the cholesterol ester transfer protein (CETP) gene TaqIB polymorphism and the lipid-lowering effect of atorvastatin in patients with coronary atherosclerotic heart disease. Two hundred eighty-eight patients were divided into a control group, an acute coronary syndrome (ACS) group, and a stable coronary heart disease (CHD) group.

Frequency of MDR1 single nucleotide polymorphisms in a Jordanian population, including a novel variant

O. F. Khabour, Alzoubi, K. H., Al-Azzam, S. I., and Mhaidat, N. M., Frequency of MDR1 single nucleotide polymorphisms in a Jordanian population, including a novel variant, vol. 12, pp. 801-808, 2013.

The multidrug resistance gene (MDR1 or ABCB1) codes for P-glycoprotein, which plays an important role in regulating absorption, distribution, and elimination of drugs. We examined MDR1 gene variants in 100 unrelated subjects from various regions of Jordan. The MDR1 gene was scanned using direct sequencing. Six rare variants in MDR1 were detected, including a new variant, T3075A. This variant did not affect the protein sequence (synonym for threonine).

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