Research Article

Related GMR Articles

2016 Dec 02
Actinin; Adult; Ankle Injuries; Asians; 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
2016 Dec 19
Brazil; Cystic fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Early Diagnosis; Gene flow; Gene frequency; Genetic counseling; Healthy Volunteers; Humans; Mutation; Whites

The ΔF508 mutation is the most common cause of cystic fibrosis and its prevalence varies worldwide. For instance, up to 20-fold variations in its frequency have been recorded across different areas of Brazil. This study aimed to compare the distribution of ΔF508 among healthy individuals of admixed Portuguese descent from Espírito Santo (ES), a state in Southeastern Brazil, to that in a ... more

A.M. Lanes; L.S. Louro; D.P. Ventorim; E. Stur; F.M. Garcia; L.P. Agostini; L.N.R. Alves; R.S. Reis; I.D. Louro; R.S. Dettogni
2/16/2017
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
2017 Feb 16
Asians; 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
2017 Feb 23
Asians; 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
3/8/2017
Adrenocorticotropic Hormone; Adult; Alleles; ATP Binding Cassette Transporter, Subfamily B; Gene frequency; Genotype; Healthy Volunteers; Humans; Hydrocortisone; Hypothalamo-Hypophyseal System; Japan; male; Pituitary-Adrenal System; Polymorphism, Single Nucleotide

In vitro studies have shown that multidrug resistance protein 1 (MDR1) has an affinity for cortisol; however, in vivo association studies on the relationship between MDR1 gene polymorphisms and blood cortisol levels have produced inconsistent results. Therefore, we examined the effects of the C3435T polymorphism of the MDR1 gene on blood levels of hypothalamus-pituitary-adrenal (HPA) axis ... more

A. Suzuki; Y. Matsumoto; T. Shirata; K. Goto; M. Enokido; K. Otani
2017 Mar 30
Aged; Aged, 80 and over; Alleles; Asians; Case-control studies; Ethnicity; Gene frequency; Genetic predisposition to disease; Genetic variation; Haplotypes; Humans; male; Middle Aged; Polymorphism, Single Nucleotide; Prostatic Neoplasms; Proto-Oncogene Proteins c-akt

AKT1, also known as v-akt murine thymoma viral oncogene homolog 1, is involved in the regulation of cell-survival and anti-apoptotic activities, which may affect the pathogenesis of various cancers. However, the association between genetic variants of AKT1 and the risk of developing prostate cancer has not been investigated before. This study investigated the associations between three ... more

J.M. Liu; S.H. Cheng; C. Xia; T. Deng; Y.C. Zhu; X. Wei; Z.L. Huang; B.H. Liao; D.Y. Luo; Y.G. Zhang; T. Jin; K.J. Wang; J. Huang; H. Li
2017 Mar 30
Adult; Alleles; Case-control studies; Gene frequency; Genetic predisposition to disease; Humans; male; Middle Aged; Pilot Projects; Polymorphism, Single Nucleotide; Receptors, Tumor Necrosis Factor, Type I; Russia; Spondylitis, Ankylosing; Whites

The aim of this study was to assess the association between the TNFR1 rs2234649 polymorphism and ankylosing spondylitis susceptibility in a Russian Caucasian population. A total of 41 ankylosing spondylitis patients and 43 healthy controls, matched according to age and sex, were enrolled, and polymerase chain reaction-restriction fragment length polymorphism analysis was used to genotype the ... more

V. Mordovskii; A. Semenchukov; S.Y. Nikulina; A.B. Salmina; A. Chernova; E. Kapustina; A. Kents; A. Ohapkina; E. Moskaleva; P.E. Maltese; P. Convertini; M. Bertelli
2017 Apr 05
Adult; Alleles; Asians; 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
4/5/2017
Alleles; Brazil; Gene frequency; Genetic association studies; Haplotypes; Humans; Huntingtin Protein; Huntington Disease; Mutation; Trinucleotide repeat expansion

Huntington's disease (HD) is an autosomal dominant progressive neurodegenerative disorder caused by a dynamic mutation due to the expansion of CAG repeats in the HTT gene (4p16.3). The considered normal alleles have less than 27 CAG repeats. Intermediate alleles (IAs) show 27 to 35 CAG repeats and expanded alleles have more than 35 repeats. The IAs apparently have shown a normal phenotype. ... more

T.A. Apolinário; C.L.A. Paiva; L.A. Agostinho

Pages