Research Article

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2/16/2017

Polymorphism in the third intron of the interferonγ gene is associated with susceptibility to multiple sclerosis.

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
2/23/2017

Polymorphisms in interleukin-6 and interleukin-10 may be associated with risk of preeclampsia.

Adult; Asian People; 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
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
12/02/2016

Genetic association between ACTN3 polymorphism and risk of non-acute ankle sprain.

Actinin; Adult; Ankle Injuries; Asian People; China; Female; Gene frequency; Genetic association studies; Genetic predisposition to disease; Humans; male; Polymorphism, Single Nucleotide; Young Adult

In this study, we investigated the association between ACTN3 R577X polymorphism and non-acute ankle sprain by measuring the allele frequency and genotype distribution of ACTN3 in a Chinese Han population. We recruited 100 patients with non-acute ankle sprain and 100 healthy controls with no history of ankle injuries. Mass spectrometric analysis of single nucleotide polymorphism was used to ... more

B. Qi; J.Q. Liu; G.L. Liu
12/19/2016

Matrix metalloproteinase gene polymorphisms and susceptibility to systemic sclerosis.

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
2/23/2017

Association between the interleukin-1β C-511T polymorphism and periodontitis: a meta-analysis in the Chinese population.

Asian People; 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
3/15/2017

Lack of association between CARD10/CARMA3 tag SNPs and psoriasis vulgaris in the southern Chinese population.

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
3/30/2017

Association between interleukin-17 gene polymorphisms and the risk of laryngeal cancer in a Chinese population.

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

F.Z. Si; Y.Q. Feng; M. Han
3/15/2017

MNS, Duffy, and Kell blood groups among the Uygur population of Xinjiang, China.

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
12/02/2016

Genetic polymorphisms in extracellular superoxide dismutase Leu53Leu, Arg213Gly, and Ala40Thr and susceptibility to type 2 diabetes mellitus.

Adult; Alanine; Arginine; Asian People; Diabetes Mellitus, Type 2; Female; Genetic predisposition to disease; Genotype; Glutamine; Humans; Leucine; male; Middle Aged; Polymorphism, Single Nucleotide; Regression Analysis; Superoxide dismutase; Threonine

The most common type of endocrine disease is type 2 diabetes mellitus (T2DM); genetic factors contribute to the development to T2DM. In this study, we investigated the role of the Leu53Leu, Arg213Gly, and Ala40Thr polymorphisms in extracellular superoxide dismutase (EC-SOD) gene in the development of T2DM in a Chinese population. DNA was extracted from peripheral blood samples obtained from ... more

Y.M. Yang; X.R. Xie; A.L. Jin

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