Research Article

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2/16/2017
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
3/15/2017
Adult; Biomarkers; Case-control studies; Cells, Cultured; Chelating Agents; Combined Modality Therapy; Female; Hepatolenticular Degeneration; Humans; Liver; Liver cirrhosis; male; Mesenchymal Stem Cell Transplantation; Mesenchymal stem cells; Penicillamine; Transforming Growth Factor beta1; Treatment outcome; Tumor necrosis factor-alpha; Young Adult

The efficacy of bone marrow mesenchymal stem cell (BMSC) on liver fibrosis in animal has been proven, but a few studies have been made in human body and few such researches in China. This study was designed to investigate the effect of BMSC treatment on hepatic fibrosis induced by hepatolenticular degeneration and the influence on serological indicators. Sixty patients with liver fibrosis ... more

D. Zhang
2/23/2017
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
2017 Mar 15
Adolescent; Adult; Aged; Aged, 80 and over; Asians; 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
2/16/2017
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
2016 Dec 19
Aged; Asians; Carcinoma, Non-Small-Cell Lung; China; Female; Genetic predisposition to disease; Humans; Interferon-gamma; Interleukin-18; Lung Neoplasms; male; Middle Aged; Polymorphism, Single Nucleotide; Tumor necrosis factor-alpha

Lung cancer is one of the main causes of cancer-related mortality in males and females worldwide. A pleiotropic effect has been observed in the interleukin 18 gene (IL18); its effects include the activation of natural killer cell cytotoxicity and the promotion of the Th1 immune response through the alteration of the expression of interferon-γ and TNF-α in humans. IL18 is therefore involved in ... more

W.Y. Gan; H.M. Li; Y.G. Zhang; C.M. Li; Y. Wang
4/20/2017
Adolescent; Adult; Alleles; Case-control studies; China; Female; Genotype; Humans; Interleukin-6; Keloid; male; Middle Aged; Polymorphism, Single Nucleotide

The aim of the present study is to explore the effect of IL-6 gene polymorphisms on the development of keloid scar (KS) in the Chinese Han population. Genotyping of IL-6 was performed by the polymerase chain reaction (PCR), followed by restriction fragment length polymorphism assays (PCR-RFLP). Serum level of IL-6 was measured using enzyme-linked immunosorbent assay (ELISA). Results indicated ... more

X.J. Zhu; W.Z. Li; H. Li; C.Q. Fu; J. Liu
6/29/2017
Adolescent; Adult; Anemia, Sickle Cell; Child; Child, Preschool; Female; Gene Deletion; Haplotypes; Hemoglobins; Humans; male; Middle Aged; Polymorphism, Genetic; Receptors, CCR5

Sickle cell disease shows several clinical manifestations in distinct levels of severity. This heterogeneity is due to the haplotype variability associated with the HbS gene, levels of fetal hemoglobin and environmental conditions, which modify the disease expression. Science community believes that the presence of a polymorphism in the CCR5 gene, which is related to chronic inflammatory state ... more

A.F. Nascimento; J.S. Oliveira; J.C.Silva Junior; A.A.L. Barbosa
8/17/2017
Adolescent; Adult; Case-control studies; Child; Child, Preschool; Down syndrome; Female; Humans; Infant; Interleukin-6; male; Polymorphism, Single Nucleotide

Down syndrome (DS) individuals present impaired adaptive immune system. However, the etiology of the immunological deficiency in these individuals is not completely understood. This study investigated the frequency of interleukin 6 polymorphisms (rs1800795, rs1800796, and rs1800797) in individuals with DS and individuals without the syndrome. The study included 282 individuals, 94 with DS ... more

M.F. Mattos; L. Uback; P.M. Biselli-Chicote; J.M. Biselli; E.M. Goloni-Bertollo; E.C. Pavarino
2016 Dec 02
Adult; Aged; Aged, 80 and over; Asians; China; Chromosome aberrations; Chromosomes, Human; Female; Humans; Karyotyping; Lymphoma, Non-Hodgkin; male; Middle Aged; Young Adult

The incidence of non-Hodgkin lymphoma (NHL) in China is increasing and is attracting attention as a topic of research. The percentage of NHL cases in ethnic Uighur people is also gradually increasing. We therefore recruited Uighur people with NHL to investigate the correlation between genetic alternations and clinical/pathological features in an attempt to determine their clinical significance ... more

L. Xu; X.G. Zou; X. Wang; A.B.L.M.T. Hairesa; J.J. Liu

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