Research Article

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08/25/2009
Case-control studies; Chronic obstructive pulmonary disease; Genetic predisposition to disease; Matrix metalloproteinases; Single nucleotide polymorphism

There are many candidate genes for chronic obstructive pulmonary disease (COPD). One such candidate is the group of genes that code for matrix metalloproteinases (MMPs), which play an essential role in tissue remodeling and repair associated with COPD. We tested the hypothesis that polymorphic variation in MMP genes influences the risk of developing COPD by examining functional ... more

H. Schirmer; B. da Silva; P.J.Z. Teixeira; J.S. Moreira; A.L.S. Moreira; D. Simon
12/19/2016
Aged; Asian People; Case-control studies; Female; Genetic predisposition to disease; Humans; Interleukin-10; male; Middle Aged; Polymorphism, Single Nucleotide; Regression Analysis; Stomach neoplasms

We conducted a case-control study to investigate the association between the interleukin-10 (IL-10) C819T polymorphism and susceptibility to gastric cancer in a Chinese population. A total of 157 patients with gastric cancer and 249 controls were consecutively enrolled from the Guizhou Provincial People's Hospital between October 2012 and February 2015. The polymerase chain reaction- ... more

L. Li; X.Y. Tang; L.M. Ye; Q. Yang; Y. Li
12/19/2016
Adult; Aromatase; Asian People; Case-control studies; Endometriosis; Female; Genetic predisposition to disease; Genotype; Glutathione S-Transferase pi; Glutathione transferase; Humans; Polymorphism, Single Nucleotide; Young Adult

Endometriosis is a common, complicated, and highly heterogeneous endocrine disease. Many genetic factors could affect the development of endometriosis. We performed a case-control study to evaluate the association between polymorphisms in CYP19A1 rs2899470, GSTM1, GSTT1, and GSTP1 rs1695 and the development of endometriosis in a Chinese population. Between March 2014 and October 2015, 262 ... more

Y. Tuo; J.Y. He; W.J. Yan; J. Yang
12/19/2016
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
Adult; Arginine; Asian People; Case-control studies; Collagen Type IX; Female; Genetic predisposition to disease; Glutamine; Humans; Intervertebral disc degeneration; Intervertebral Disc Displacement; male; Middle Aged; Mutation

Intervertebral disc disease is a multifactorial condition, yet disease pathogenesis that can be promoted by a single dominant mutation affecting the expression of susceptibility genes. We performed a case-control study to assess the influence of the COL9A2 Gln326Arg polymorphism on risk of intervertebral disc disease in a Chinese population. Between March 2014 and March 2015, a total of 215 ... more

T. Meng; Q. Ren; J.M. Wang; H. Shi; S.T. Zhang; M.T. Liu
12/19/2016
Adult; Case-control studies; Female; Gene frequency; Genetic predisposition to disease; Humans; male; Matrix Metalloproteinase 1; Matrix Metalloproteinase 3; Matrix Metalloproteinase 9; Middle Aged; Polymorphism, Single Nucleotide; Promoter Regions, Genetic; Scleroderma, Systemic

The major pathological hallmark of the systemic sclerosis (SSc) is skin and internal organ fibrosis, which results from normal tissue architecture alterations and extracellular matrix (ECM) protein deposition. ECM components are degraded by matrix metalloproteinases (MMP). Promoter region polymorphisms in MMP genes may influence gene expression, resulting in an imbalance between ECM protein ... more

T.F. Rech; S.B.C. Moraes; M. Bredemeier; J. de Paoli; J.C.T. Brenol; R.M. Xavier; J.A.B. Chies; D. Simon
12/23/2016
Alleles; Case-control studies; Female; Genetic predisposition to disease; Genotype; Humans; Methylenetetrahydrofolate Reductase (NADPH2); Odds Ratio; Polycystic ovary syndrome; Polymorphism, Single Nucleotide

Polycystic ovary syndrome is one of the most frequently encountered endocrine malfunctions. Methylenetetrahydrofolate reductase (MTHFR) plays a vital role in folate metabolism, DNA methylation, and RNA synthesis. We carried out a study to investigate the association between MTHFR C677T and A1298C genetic variations and the risk of polycystic ovary syndrome in a Chinese population. We recruited ... more

J.B. Wu; J.F. Zhai; J. Yang
1/23/2017
Alleles; Case-control studies; Female; Genetic association studies; Genetic predisposition to disease; Genotype; Humans; Odds Ratio; Polymorphism, Genetic; Tumor Protein p73; Uterine cervical neoplasms

The aim of this study was to investigate the tumor protein p73 (TP73) G4C14-A4T14 polymorphism and to perform a meta-analysis to assess TP73 expression in cervical cancer and precancerous tissue. Articles containing data regarding TP73 status in cervical cancer patients and healthy controls were retrieved from PubMed, EMBASE, Cochrane, Chinese Biomedical Literature, and China National ... more

H. Feng; L. Sui; M. Du; Q. Wang
1/23/2017
Case-control studies; Cerebral infarction; Diffusion Tensor Imaging; Humans; Wallerian Degeneration

This study aimed to evaluate the clinical significance of diffusion tensor imaging (DTI) in the early diagnosis of pyramidal tract Wallerian degeneration (WD) and assessment of neurological recovery following cerebral infarction. This study included 23 patients with acute cerebral infarction and 10 healthy adult controls. All participants underwent both magnetic resonance imaging (MRI) and DTI ... more

A.H. Guo; F.L. Hao; L.F. Liu; B.J. Wang; X.F. Jiang
2/08/2017
Alleles; Asian People; Case-control studies; China; Connexin 26; 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

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