Research Article

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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 ... more

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Cleidocranial dysplasia; Gene; Mutation; RUNX2

Cleidocranial dysplasia (CCD) is an autosomal-dominant heritable skeletal disease caused by heterozygous mutations in the RUNX2 gene. We studied a Chinese family that included three affected individuals with CCD phenotypes; the clinical features of patients with CCD include delayed closure of fontanelles, frontal bossing, dysplasia of clavicles, late tooth eruption, and other ... more

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Chemokine; Gene; Inflammation; OSCC; Polymorphism

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 ( ... more

C.R. Tanyel; Z.B. Cincin; B. Gokcen-Rohlig; K. Bektas-Kayhan; M. Unur; B. Cakmakoglu
Cattle; Gene; mutations; Polymorphism; Sequence; TNF-RII

Tumor necrosis factor receptor type II (TNF-RII) is a surface glycoprotein that can form a complex with TNF-α and participate in the body's immune response. Functions of TNF-RII are impaired in the pathogenesis of viral diseases. We analyzed sequences in the regulatory region of the TNF-RII gene in cattle. An attempt was also made to identify mutations that would have the greatest effect ... more

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Coronary artery disease; Endothelial lipase; Gene; Polymorphism

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 ... more

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COX-1; Gene; Polymorphism

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 ... more

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Gene; Genetics; Non-small cell lung cancer; Radiation effects; Radiation tolerance

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 ... more

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Arg389Gly; Gene; Heart failure; Meta-analysis; Polymorphism; β1 adrenergic receptor

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, ... more

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Gene; Mild cognitive impairment; Polymorphism; Thyroid hormone; Type 2 deiodinase; Uygur

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 ... more

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Gene; Liver X receptor α; Polymorphism; Stroke

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 ... more

J.S. Yang; J.J. Hao; S.S. Wang; Z.F. Zhu; Q. Fang; H. Bao; H.P. Zhang