Research Article

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02/08/2017
Alleles; Asian Continental Ancestry Group; Case-control studies; China; Connexins; Deafness; Female; Genotype; Humans; Odds Ratio; Polymorphism, Genetic; Pregnancy; Risk; Sequence Deletion

Congenital deafness is a serious and irreversible condition in humans. The GJB2 gene is implicated in the pathogenesis of autosomal recessive nonsyndromic hearing loss. Its 235delC and 30-35delG polymorphisms are reported to be associated with risk of hereditary deafness. However, the effect of the interaction between GJB2 235delC and 30-35delG and environmental factors on congenital deafness ... more

Y. Xiong; M. Zhong; J. Chen; Y.L. Yan; X.F. Lin; X. Li
02/08/2017
Animals; DNA damage; DNA Fragmentation; Female; Ferric Compounds; Humans; Lipid peroxidation; Lymphocytes; Metal Nanoparticles; Oxidative stress; Rats; Reactive oxygen species; Silicon Dioxide

At present, the use of nanoparticles is a controversial topic, especially when analyzing their effects in human tissues. Nanoparticles (NPs) can cause oxidative stress by increasing membrane lipids peroxidation and reactive oxygen species, and decreasing intracellular glutathione. Oxidative stress plays an important role in cell signaling and inflammatory responses. It can result in ... more

J. Jiménez-Villarreal; D.I. Rivas-Armendáriz; R.D.Arellano Pérez-Vertti; O. Calderón; R. García-Garza; N.D. Betancourt-Martínez; L.B. Serrano-Gallardo; J. Morán-Martínez
02/08/2017
Developing Countries; Genetic Diseases, Inborn; Genetic testing; Humans; Mass Screening; Population Surveillance; Socioeconomic Factors

The aim of this review is to describe a series of ten genetic diseases with Mendelian inheritance pattern in people of low- or middle-income countries, which can be easily identified with simple and affordable methods. Recent information shows that although genetic diseases account for more than 10% of infant mortality in such countries, testing, counseling, and treatment of genetic diseases ... more

P.E. Maltese; E. Poplavskaia; I. Malyutkina; F. Sirocco; A. Bonizzato; N. Capodicasa; S.Y. Nicoulina; A. Salmina; N. Aksutina; M. Dundar; T. Beccari; S. Cecchin; M. Bertelli
02/16/2017
Adolescent; Adult; Aged; Case-control studies; Female; Gene frequency; Genetic association studies; Genetic predisposition to disease; Genotype; Humans; Interferon-gamma; Introns; male; Middle Aged; Multiple sclerosis; Polymorphism, Single Nucleotide; Young Adult

The present study aims to examine the relationship between polymorphisms in the third intron of the IFN-γ gene and their influence on susceptibility to multiple sclerosis. A population-based case-control study was used for this purpose. Multiple sclerosis patients and healthy controls were interviewed. Genetic polymorphisms of IFN-γ intron III at the +2118 A/G and +3586 G/ACT sites were ... more

X.L. Wang; F.R. Meng; X. Wang; S.H. Wang; L. Guo
2017 Feb 16
Asian Continental Ancestry Group; Case-control studies; Coronary artery disease; Female; Gene frequency; Genetic association studies; Genetic predisposition to disease; Humans; Interleukin-8; male; Polymorphism, Single Nucleotide

Interleukin-8 (IL-8) is a mediator of inflammation and plays an important role in regulating immune responses. To date, several studies have tested the association between IL-8 gene polymorphisms and development of coronary artery disease (CAD), but their results have proved to be inconsistent. We conducted an investigation to assess the relationship between the IL-8 -251A/T (rs4073) sequence ... more

R.J. Zhang; X.D. Li; S.W. Zhang; X.H. Li; L. Wu
02/16/2017
Adult; Aged; Aged, 80 and over; Arabs; Colorectal neoplasms; Exons; Female; Humans; male; Middle Aged; Mutation; Mutation Rate; Prognosis; Proto-Oncogene Proteins p21(ras); Retrospective Studies; Saudi Arabia; Survival analysis; Young Adult

Mutations in codons 12/13 of K-ras exon 2 are associated with reduced benefit from anti-epidermal growth factor receptor antibody treatment for metastatic colorectal cancer (CRC). Here, we evaluated the frequency of K-ras mutations and their relationship with clinicopathological features and treatment outcomes in Saudi Arabian patients with CRC. The genetic status of K-ras was determined in ... more

J. Zekri; A. Al-Shehri; M. Mahrous; S. Al-Rehaily; T. Darwish; S. Bassi; E. Taani; A. Zahrani; S. Elsamany; J. Al-Maghrabi; B.B. Sadiq
02/23/2017
Adult; Asian Continental Ancestry Group; China; Female; Gene frequency; Genetic predisposition to disease; Genotype; Humans; Interleukin-10; Interleukin-6; Logistic Models; Odds Ratio; Polymerase chain reaction; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; Pre-eclampsia; Pregnancy; Promoter Regions, Genetic; Risk factors; Young Adult

Preeclampsia is a common condition unique to pregnant women. Previous studies have suggested that several cytokines may contribute to defective placental invasion and endothelial damage in this condition. We investigated the influence of four single nucleotide polymorphisms (SNPs) in the promoters of IL-6 (-572G/C, -597G/A, and -174G/C) and IL-10 (-592A/C) on susceptibility to preeclampsia in ... more

D.M. Fan; Y. Wang; X.L. Liu; A. Zhang; Q. Xu
02/23/2017
Adult; DNA, Viral; Female; Genotype; Hepatitis B Antibodies; Hepatitis B e Antigens; Hepatitis B Surface Antigens; Hepatitis B virus; Hepatitis B, Chronic; Host-Pathogen Interactions; Humans; male; Middle Aged; Polymerase chain reaction; Sequence Analysis, DNA; Virus Activation; Virus Replication; Young Adult

Concurrent detection of hepatitis B surface antigen (HBsAg) and anti-HBs antibody or hepatitis B surface E antigen (HBeAg) and anti-HBe antibody in patients with chronic hepatitis B (CHB) infection is well established. However, the clinical implications of these proteins remain largely unknown. In this study, demographic, clinical, and laboratory data from 124,865 patients with chronic CHB ... more

Y. Xiang; P. Chen; J.R. Xia; L.P. Zhang
02/23/2017
Asian Continental Ancestry Group; China; Gene frequency; Genetic predisposition to disease; Genotype; Humans; Interleukin-1beta; Linkage disequilibrium; Odds Ratio; Periodontitis; Polymorphism, Single Nucleotide; Risk factors

The association between the interleukin-1 beta (IL-1β) C-511T (or rs16944) polymorphism and periodontitis remains inconclusive, even though there have been previous studies on this association. To assess the effects of IL-1β C-511T variants on the risk of development of periodontitis, a meta-analysis was performed in a single ethnic population. Studies, published up to December 2015, were ... more

H.F. Wang; F.Q. He; C.J. Xu; D.M. Li; X.J. Sun; Y.T. Chi; W. Guo
2017 Feb 23
Algorithms; Amino acid sequence; Amino acids; Animals; binding sites; Computational biology; Databases, Protein; Humans; Hydrophobic and Hydrophilic Interactions; Models, Theoretical; Neural Networks, Computer; Phosphorylation; Proteins; Reproducibility of Results; Support vector machine

Phosphorylation is an important part of post-translational modifications of proteins, and is essential for many biological activities. Phosphorylation and dephosphorylation can regulate signal transduction, gene expression, and cell cycle regulation in many cellular processes. Phosphorylation is extremely important for both basic research and drug discovery to rapidly and correctly identify ... more

R.Z. Han; D. Wang; Y.H. Chen; L.K. Dong; Y.L. Fan

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