Research Article

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12/19/2016

CASE-REPORT Association between an ACAN gene variable number tandem repeat polymorphism and lumbar disc herniation: a case control study.

Adult; Aggrecans; Asian People; Case-control studies; Female; Genetic predisposition to disease; Humans; Intervertebral disc degeneration; Intervertebral Disc Displacement; male; Middle Aged; Minisatellite Repeats; Young Adult

We investigated the association between an aggrecan gene (ACAN) polymorphism and lumbar disc herniation (LDH). This was a case-control study with quinquennial age and gender groups. The study comprised 119 men and women aged between 20 and 60 from Goiânia (Brazil). Of these, 39 were allocated to the case group (Ca) and 80 to the control group (Ct). We gathered sociodemographic and clinical ... more

N.L.L. Casa; A.J.Casa Junior; A.V. Melo; L.S. Teodoro; G.R. Nascimento; A.F. Sousa; T.C. Flausino; D. Brito; R. Bergamini; L.B. Minasi; A.D. da Cruz; T.C. Vieira; M.P. Curado
12/19/2016

Association between IL18-607C/A and -137G/C polymorphisms and susceptibility to non-small cell lung cancer in a Chinese population.

Aged; Asian People; 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
12/19/2016

Analysis of ADH1B Arg47His, ALDH2 Glu487Lys, and CYP4502E1 polymorphisms in gastric cancer risk and interaction with environmental factors.

Aged; Alcohol Dehydrogenase; Aldehyde Dehydrogenase, Mitochondrial; Asian People; Cytochrome P-450 CYP2E1; Female; Genetic predisposition to disease; Genotype; Humans; Logistic Models; male; Middle Aged; Polymorphism, Genetic; Stomach neoplasms

Gastric cancer is the fourth commonly diagnosed cancer and the second most frequent cause of cancer death worldwide. Genetic variations in ADH1B and ALDH2 may alter the function and activity of the corresponding enzymes, leading to differences in acetaldehyde exposure between drinkers. Cytochrome P4502E1 (CYP4502E1) is a phase I enzyme that plays an important role in metabolizing nitrosamine ... more

Z.H. Chen; J.F. Xian; L.P. Luo
2/16/2017

IL-8 -251A/T polymorphism contributes to coronary artery disease susceptibility in a Chinese population.

Asian People; 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
4/05/2017

Association between interleukin-4 polymorphisms and risk of pre-eclampsia in a population of Chinese pregnant women.

Adult; Alleles; Asian People; Case-control studies; China; Female; Gene frequency; Genetic association studies; Genetic predisposition to disease; Humans; Interleukin-4; Polymorphism, Single Nucleotide; Pre-eclampsia; Pregnancy; Risk factors

Preeclampsia is a common disease unique to pregnant women, and its development involves many genetics l factors. IL-4 is an important regulatory factor of the Th2 cellular immune response, and plays an important role in the induction of placental growth. In this study, we investigated the relationship between IL-4 C-590T, C+33T and G-1098T polymorphisms and risk of pre-eclampsia in a ... more

J. Chen; M. Zhong; Y.H. Yu
4/05/2017

Polymorphism E23K (rs5219) in the KCNJ11 gene in Euro-Brazilian subjects with type 1 and 2 diabetes.

Adult; Aged; Brazil; Case-control studies; Diabetes Mellitus, Type 1; Diabetes Mellitus, Type 2; Female; Gene frequency; Genetic association studies; Genetic predisposition to disease; Humans; Insulin-Secreting Cells; KATP Channels; male; Middle Aged; Polymorphism, Single Nucleotide; Potassium Channels, Inwardly Rectifying; White People

Insulin secretion is regulated by ATP-sensitive potassium channels (KATP). The potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) gene, located on chromosome 11p15.1, encodes the subunit Kir6.2 that forms the pore region of KATP channels in pancreatic β-cells. Among the single nucleotide polymorphisms (SNPs) associated with KCNJ11, the E23K polymorphism (rs5219) promotes a ... more

S.W. Souza; L.P. Alcazar; P.A. Arakaki; I.C.R. Santos-Weiss; D. Alberton; G. Picheth; F.G.M. Rego
07/06/2017

Association of endothelin-1 gene polymorphisms with essential hypertension in a Chinese population.

Aged; Case-control studies; China; Endothelin-1; Female; Gene frequency; Humans; Hypertension; male; Middle Aged; Mutation, Missense; Polymorphism, Single Nucleotide

Endothelin-1 (ET-1) is the most potent endogenous vasoconstrictor and is involved in several vascular disorders such as hypertension. Its strong interaction with other vasoactive hormone systems suggests that the ET-1 gene (EDN1) is a potential candidate molecule that influences the risk of developing hypertension. Recently, two single nucleotide polymorphisms in EDN1 have been reported to be ... more

Z. Fang; M. Li; Z. Ma; G. Tu
06/29/2017

Haplotypes and polymorphism in the CCR5 gene in sickle cell disease.

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
08/17/2017

Polymorphisms of interleukin 6 in Down syndrome individuals: a case-control study.

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
4/20/2017

Association of interleukin-6 gene polymorphisms and circulating levels with keloid scars in a Chinese Han population.

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

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