Research Article

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02/16/2017
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
03/30/2017
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
03/30/2017
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

A. Teleginski; M. Welter; H.R. Frigeri; R.R. Réa; E.M. Souza; D. Alberton; F.G.M. Rego; G. Picheth
04/05/2017
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
02/08/2017
Alleles; Asian Continental Ancestry Group; Case-control studies; China; 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
2017 Feb 16
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
03/15/2017
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

G. Shi; M.F. Zhang; P.Y. Liao; T.T. Wang; S.J. Li; Y.M. Fan; K.J. Zhu
04/05/2017
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
01/23/2017
Alleles; Colorectal neoplasms; Genetic association studies; Genetic predisposition to disease; Genotype; Humans; Mexico; Odds Ratio; Polymorphism, Single Nucleotide; PPAR delta

PPARD encodes for peroxisome proliferator-activated receptor delta, which plays a significant role in controlling lipid metabolism, atherosclerosis, inflammation, cancer growth, progression, and apoptosis. Accumulated evidence suggests that the polymorphism rs2016520 in PPARD is associated with lipid metabolism, obesity, metabolic syndrome, and type 2 diabetes mellitus. The aim of this study ... more

M.A. Rosales-Reynoso; L.I. Wence-Chavez; A.R. Arredondo-Valdez; S. Dumois-Petersen; P. Barros-Núñez; M.P. Gallegos-Arreola; S.E. Flores-Martínez; J. Sánchez-Corona
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Alleles; environment; Gene-Environment Interaction; Genetic association studies; Genetic predisposition to disease; Genotype; Glutathione S-Transferase pi; Glutathione transferase; Humans; Polymorphism, Genetic; Stomach neoplasms

Glutathione S-transferase (GST) is an important member of phase II metabolic enzymes; GSTM1, GSTT1, and GSTP1 belong to three subfamilies of the GST enzyme. Polymorphisms in GSTM1, GSTT1, and GSTP1 could affect detoxification processes, and increase individuals' susceptibility to cancers. We aimed to investigate the association between GSTM1, GSTT1, and GSTP1 polymorphisms and the risk of ... more

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