Research Article

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Adult; Asian Continental Ancestry Group; 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

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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

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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
4/5/2017
Adult; Alleles; Asian Continental Ancestry Group; 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
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Adult; Aged; Brazil; Case-control studies; Diabetes Mellitus, Type 1; Diabetes Mellitus, Type 2; European Continental Ancestry Group; 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

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
2/23/2017
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
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
3/30/2017
Adult; Aged; Aged, 80 and over; Alleles; Asian Continental Ancestry Group; 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
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
3/30/2017
Adult; Alleles; Brazil; Carrier Proteins; Case-control studies; Cation Transport Proteins; Diabetes, Gestational; Female; Gene frequency; Genetic association studies; Genetic predisposition to disease; Humans; Leptin; Polymorphism, Single Nucleotide; Pregnancy

Leptin (LEP), a protein that plays a fundamental role in the metabolism of energy reserves, and the solute carrier family 30 A8 zinc transporter (SLC30A8) have been consistently associated with diabetes. Women with gestational diabetes are at moderate risk of developing diabetes type 1 and 2 after pregnancy, in addition to complications to the fetus. We investigated the association of the ... more

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