Research Article

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Adolescent; Adult; Brazil; Cross-Sectional Studies; Cystathionine beta-Synthase; Epistasis, Genetic; Female; Folic acid; Gene frequency; Genetic predisposition to disease; Genotype; Heterozygote; Homocysteine; Homozygote; Humans; Linkage disequilibrium; male; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Polymorphism, Single Nucleotide; Risk factors; Thrombophilia; Thrombosis; Vitamin B 12; Young Adult

High plasma homocysteine (Hcy) ​​levels may be responsible for vaso-occlusive episodes and may have acquired and/or genetic causes. This cross-sectional study aimed to investigate the role of methylenetetrahydrofolate reductase (MTHFR; C677T; A1298C) and cystathionine-β-synthase (CBS; T833C/844ins68, G919A) polymorphisms in serum levels of folic acid, vitamin B12 and Hcy, and to verify a ... more

F.M. Amaral; A.L. Miranda-Vilela; G.S. Lordelo; I.F. Ribeiro; M.B. Daldegan; C.K. Grisolia
3/08/2017
Adrenocorticotropic Hormone; Adult; Alleles; ATP Binding Cassette Transporter, Subfamily B; Gene frequency; Genotype; Healthy Volunteers; Humans; Hydrocortisone; Hypothalamo-Hypophyseal System; Japan; male; Pituitary-Adrenal System; Polymorphism, Single Nucleotide

In vitro studies have shown that multidrug resistance protein 1 (MDR1) has an affinity for cortisol; however, in vivo association studies on the relationship between MDR1 gene polymorphisms and blood cortisol levels have produced inconsistent results. Therefore, we examined the effects of the C3435T polymorphism of the MDR1 gene on blood levels of hypothalamus-pituitary-adrenal (HPA) axis ... more

A. Suzuki; Y. Matsumoto; T. Shirata; K. Goto; M. Enokido; K. Otani
3/15/2017
Adult; Asian People; CARD Signaling Adaptor Proteins; Case-control studies; China; Female; Gene frequency; Genetic association studies; Genetic predisposition to disease; Humans; male; Middle Aged; Polymorphism, Single Nucleotide; Psoriasis; Risk; Sequence Analysis, DNA

Previously, we determined that the CARD11 rs4722404 single nucleotide polymorphism (SNP) increases risk of early-onset psoriasis vulgaris (PsV). Moreover, the CARD14 gene polymorphism c.C2458T (p.Arg820Trp) is associated with clinical features of this disease. CARMA1/CARD11, CARMA2/CARD14, and CARMA3/CARD10 are conserved across many species and constitute a family of proteins, all of the ... more

G. Shi; M.F. Zhang; P.Y. Liao; T.T. Wang; S.J. Li; Y.M. Fan; K.J. Zhu
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Adolescent; Adult; Aged; Aged, 80 and over; Asian People; Child; Child, Preschool; China; Duffy Blood-Group System; Female; Gene frequency; Genotype; Humans; Infant; Kell Blood-Group System; male; Middle Aged; MNSs Blood-Group System; Young Adult

Human blood groups are a significant resource for patients, leading to a fierce international competition in the screening of rare blood groups. Some rare blood group screening programs have been implemented in western countries and Japan, but not particularly in China. Recently, the genetic background of ABO and Rh blood groups for different ethnic groups or regions in China has been focused ... more

G.Y. Lin; X.L. Du; J.J. Shan; Y.N. Zhang; Y.Q. Zhang; Q.H. Wang
3/15/2017
Amino acid sequence; Base Sequence; Computational biology; Databases, Genetic; Humans; Models, Molecular; Open Reading Frames; Precision Medicine; Proteins; Sequence alignment; Sequence Analysis, DNA

Technological advancements in recent years have promoted a marked progress in understanding the genetic basis of phenotypes. In line with these advances, genomics has changed the paradigm of biological questions in full genome-wide scale (genome-wide), revealing an explosion of data and opening up many possibilities. On the other hand, the vast amount of information that has been generated ... more

W.J.S. Diniz; F. Canduri
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Biomarkers, Tumor; Cyclin-Dependent Kinase Inhibitor p16; Female; Genes, p16; Genetic predisposition to disease; Humans; Leiomyoma; Leiomyosarcoma; Neoplasm Recurrence, Local; Prognosis; Smooth Muscle Tumor; Uterine Neoplasms

We conducted a meta-analysis to examine p16INK4a expression in uterine smooth muscle tumors (USMTs). Although the prognostic value of tumor suppressor p16INK4a has been elucidated in a variety of cancers and precancerous lesions, its role in USMTs is not well established. We searched PubMed, Web of Science, and Embase for publication son p16INK4a expression in USMTs. Strict inclusion and ... more

H.Y. Cao; S. Yang; S. Wang; L.Y. Deng; J.Y. Lou
3/15/2017
Atherosclerosis; Female; Genetic association studies; Genetic predisposition to disease; Genotype; Glutathione transferase; Humans; male; Middle Aged; Polymorphism, Genetic; Risk factors; Smoking

Atherosclerosis is characterized by lesions, called atheroma or atheromatous plaques, in the inner layer of blood vessels, which block the vascular lumen and weaken the underlying tunica media. Several modifiable and non-modifiable risk factors for the development of atherosclerosis exist. The modifiable risk factors include hypertension, smoking, obesity, high LDL and low HDL cholesterol ... more

D.A. Rodrigues; J.V.M. Martins; K.S.F.E. Silva; I.R. Costa; M.H. Lagares; F.L. Campedelli; A.M. Barbosa; M.P. de Morais; K.K.V.O. Moura
3/16/2017
Adult; Aged; Down-regulation; Factor VIII; Female; Gene Expression Regulation, Neoplastic; GTPase-Activating Proteins; Humans; Lymphatic metastasis; male; Middle Aged; Neoplasm Grading; Neoplasm Invasiveness; Nuclear Proteins; Stomach neoplasms; Vascular Endothelial Growth Factor A

Association of signal-induced proliferation-associated 1 (SIPA) gene and protein expression with gastric cancer development was examined. SIPA1 mRNA and protein levels were determined by real-time quantitative polymerase chain reaction and western blot, respectively, in 40 gastric tumor and tumor-adjacent normal tissues. SIPA1, VEGF-A, and FVIII levels in 60 gastric tumor and 40 tumor-adjacent ... more

J.Y. Li; J.B. Wang; C.B. Liu; D.L. Ma; J.H. Ma
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Female; Genetic predisposition to disease; Humans; male; Odds Ratio; Platelet Membrane Glycoproteins; Polymorphism, Single Nucleotide; Stroke

Ischemic stroke can lead to loss of neurologic functions. It occurs due to obstruction in blood supply to the brain. It has been proposed that C807T(C/T) polymorphism within the platelet glycoprotein gene may be associated with density and function of glycoprotein Ia/IIa receptors and contributes to the pathogenesis of thrombotic disease. We assessed the association between C807T(C/T) and risk ... more

C. Luo; L.H. Fan; H. Zhang; J. Zhao; L. Li; L. Zhang; H.X. Zhang; M.M. Ma
3/30/2017
Adult; Aged; Aged, 80 and over; Alleles; Asian People; Case-control studies; Female; Genetic association studies; Genetic predisposition to disease; Humans; Interleukin-17; Laryngeal Neoplasms; male; Middle Aged; Polymorphism, Single Nucleotide; Risk factors; Smoking

IL-17 is associated with the occurrence and development of laryngeal cancer. However, no study has reported the association between IL-17 polymorphisms and laryngeal cancer susceptibility. Therefore, we analyzed the association of three polymorphism loci (rs2275913, 197 G/A; rs3748067, 383 A/G; and rs763780, 7488 T/C) of IL-17A and IL-17F with laryngeal cancer in the Chinese population. A case ... more

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