Research Article

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12/02/2016
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
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
Adult; Arthritis, Rheumatoid; Female; Genetic predisposition to disease; Hand; Hand Injuries; Humans; Interleukin-6; male; Mexico; Middle Aged; Polymorphism, Single Nucleotide

Several interleukin 6 gene (IL6) polymorphisms are implicated in susceptibility to rheumatoid arthritis (RA). It has not yet been established with certainty if these polymorphisms are associated with the severe radiographic damage observed in some RA patients, particularly those with the development of joint bone ankylosis (JBA). The objective of the present study was to evaluate the ... more

S.A. Zavaleta-Muñiz; L. Gonzalez-Lopez; J.D. Murillo-Vazquez; A.M. Saldaña-Cruz; M.L. Vazquez-Villegas; B.T. Martín-Márquez; J.C. Vasquez-Jimenez; F. Sandoval-Garcia; A.J. Ruiz-Padilla; N.S. Fajardo-Robledo; J.M. Ponce-Guarneros; A.D. Rocha-Muñoz; M.F. Alcaraz-Lopez; D. Cardona-Müller; S.E. Totsuka-Sutto; E.D. Rubio-Arellano; J.I. Gamez-Nava
3/16/2017
Female; Genetic predisposition to disease; Humans; male; Odds Ratio; Platelet Membrane Glycoproteins; Polymorphism, Single Nucleotide; Stroke

Ischemic stroke can lead to loss of neurologic functions. It occurs due to obstruction in blood supply to the brain. It has been proposed that C807T(C/T) polymorphism within the platelet glycoprotein gene may be associated with density and function of glycoprotein Ia/IIa receptors and contributes to the pathogenesis of thrombotic disease. We assessed the association between C807T(C/T) and risk ... more

C. Luo; L.H. Fan; H. Zhang; J. Zhao; L. Li; L. Zhang; H.X. Zhang; M.M. Ma
05/31/2017
Adult; Female; Glucuronides; Glucuronosyltransferase; Graft Rejection; Humans; Kidney transplantation; male; Middle Aged; Mycophenolic Acid; Polymorphism, Single Nucleotide; UDP-Glucuronosyltransferase 1A9

Mycophenolate mofetil (MMF) is a prodrug active only after its hydrolysis to mycophenolic acid (MPA). The UGT1A9 enzyme is of special interest since it is the main enzyme involved in the glucuronidation of MPA. Single nucleotide polymorphisms (SNPs) in the UGT1A9 gene may be responsible for individual differences in the pharmacokinetics of MMF. Expression levels and the activity of UGT1A9 may ... more

L.R. Ruschel; V.M. Schmitt; A.B. Silva; C.S.A. Oliveira; K. Flach; D.O. d'Avila; F.V. Thiesen
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
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
08/17/2017
Alcohol Drinking; Atherosclerosis; Case-control studies; Diabetes mellitus; Humans; Polymorphism, Single Nucleotide; Smoking; Tumor Suppressor Protein p53

Atherosclerosis is a multifactorial pathological disease that alters the morphology and function of arterial walls. The atheroma growth leads to vessel hardening and lumen narrowing, limiting the blood flow. The atheroma plaque can eventually break, expose highly thrombogenic material and lead to platelet activation and subsequent formation of a thrombus that may block blood flow in loco, or ... more

M.H. Lagares; K.S.F. Silva; A.M. Barbosa; D.A. Rodrigues; I.R. Costa; J.V.M. Martins; M.P. Morais; F.L. Campedelli; K.K.V.O. Moura
12/02/2016
Asian People; Child; Chromosome Deletion; Chromosomes, Human, Pair 2; Fingers; Heart Defects, Congenital; Hedgehog Proteins; Humans; Karyotype; male; Syndactyly; Waardenburg Syndrome

Reports of terminal and interstitial deletions of the long arm of chromosome 2 are rare in the literature. Here, we present a case report concerning a Chinese boy with a 47,XYY karyotype and a de novo deletion comprising approximately 5 Mb between 2q35 and q36.1, along with syndactyly, type III Waardenburg syndrome, and congenital heart disease. High-resolution chromosome analysis to detect ... more

D. Wang; G.F. Ren; H.Z. Zhang; C.Y. Yi; Z.J. Peng
08/17/2017
Adolescent; Adult; Aged; Aged, 80 and over; Contraceptives, Oral; Female; Glutathione S-Transferase pi; Humans; Middle Aged; Papillomavirus Infections; Polymorphism, Single Nucleotide; Squamous Intraepithelial Lesions of the Cervix

Human papillomavirus (HPV) infection is considered a risk factor for cervical cancer. Even if the high-risk HPV (HR-HPV) infection is necessary, environmental co-factors and genetic susceptibility also play an important role in cervical cancer development. In this study, a possible association of rs1695 GSTP1 polymorphisms, HR-HPV infection, and oral contraceptive use with cancer lesion ... more

B.S. Chagas; A.P.A.D. Gurgel; S.S.L.Paiva Júnior; R.C.P. Lima; M.N. Cordeiro; R.R. Moura; A.V.C. Coelho; K.C.G. Nascimento; J.C.Silva Neto; S. Crovella; A.C. Freitas

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