Research Article

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08/03/2015
Diabetes mellitus; Genetic susceptibility; Melatonin receptor; MT2; Pregnancy; Single nucleotide polymorphisms

We investigated the association between rs4753426 single nucleotide polymorphisms in the melatonin receptor 1B (MTNR1B) gene and the risk of developing gestational diabetes mellitus (GDM). A total of 516 gravidas (186 with GDM and 330 non-diabetic controls) were enrolled in the study. Genotype and allele frequencies of rs4753426 in the MTNR1B gene were detected by DNA ... more

Y. Zhan; C. Li; Q. Gao; J. Chen; S. Yu; S.G. Liu
12/11/2015
Bone tumor; CYP1A1; Genetic susceptibility; Genotype; GSTM1

Tumor gene polymorphisms are often associated with individual susceptibility to genetic diseases. Cytochrome P4501A1 (CYP1A1) and glutathione S-transferase mu 1 (GSTM1) gene polymorphisms are closely related to the susceptibility of the body to chemical carcinogens in the environment. Therefore, we explored the relationship between CYP1A1 and GSTM1 gene ... more

L. Li; J.G. Li; C.Y. Liu; Y.J. Ding
11/23/2015
Genetic susceptibility; HLA; Leishmaniasis

Leishmaniasis is a parasitic infectious disease with global repercussions. American cutaneous leishmaniasis (ACL) is endemic in southern Brazil and its pathogenesis varies according to parasite species, immune response, and host genetics. In terms of immunogenetics, many host genes, including HLA (human leukocyte antigen), could be involved in susceptibility to and protection against ACL ... more

R.C. Ribas-Silva; A.D. Ribas; E.C. Ferreira; T.G.V. Silveira; S.D. Borelli
07/26/2019
-174G>C; Adult-onset T1D; Asp358Ala; Genetic susceptibility; IL6R; Promoter polymorphism

Type 1 Diabetes mellitus (T1D) is caused by the immune-mediated destruction of insulin-producing islet β cells, and its pathogenesis involves cytokines. Genetic background may influence cytokine signals, and polymorphisms may determine their impact on T1D autoimmunity. Several polymorphisms in and close to Interleukin-6 (IL-6) and Interleukin-6 Receptor ( ... more

L.P. Campos; V. Graciolo; M.M. Sousa; B.R. Martins; S.W. Souza; D. Alberton; G. Picheth; F.G.M. Rego
08/20/2019
Genetic susceptibility; Polymorphism; Protein tyrosine kinase 2; SNP; Type 1 diabetes mellitus

Type 1 diabetes mellitus (T1D) is considered a polygenic disease that is influenced by environmental factors and autoimmune responses to autoantibodies, resulting in metabolic abnormalities. Tyrosine kinase 2 (TYK2) is involved in type I interferon signaling in beta cells, and TYK2 polymorphism rs2304256 has been associated with T1D. We ... more

V. Graciolo; M. Welter; L.P. Campos; B.R. Martins; S.W. Souza; S.N. França; R.R. Réa; G. Picheth; F.G.M. Rego
12/09/2015
Breast cancer; MTHFR; Polymorphism; Risk

We performed a case-control study to investigate the association between single nucleotide polymorphisms in the MTHFR gene (677C/T and 1298A/C) and risk of breast cancer. This case-control study included 216 breast cancer cases and 216 controls. The MTHFR 677C/T and 1298A/C gene polymorphisms were assessed by polymerase chain reaction restriction fragment length ... more

X.F. Zhang; T. Liu; Y. Li; S. Li
04/26/2016
Bladder cancer; CYP1A2; Polymorphism; Risk

To date, no study has investigated the association between CYP1A2-163C/A polymorphism and bladder cancer risk in a Chinese population. Here, we extracted genomic DNA from peripheral white blood cells, and differentiated CYP1A2 alleles by polymerase chain reaction-based restriction fragment length polymorphism methods. Differences in genotype frequencies between the cases ... more

Y.L. Song; L. Wang; J.C. Ren; Z.H. Xu; Y.L. Song; L. Wang; J.C. Ren; Z.H. Xu; Y.L. Song; L. Wang; J.C. Ren; Z.H. Xu
1/23/2017
Female; Genetic predisposition to disease; High-Throughput Nucleotide Sequencing; Humans; Macular Degeneration; male; Proteins; Risk; Turkey

Age-related macular degeneration (AMD) is the leading cause of blindness in developed countries. It is a complex disease with both genetic and environmental risk factors. To improve clinical management of this condition, it is important to develop risk assessment and prevention strategies for environmental influences, and establish a more effective treatment approach. The aim of the present ... more

H. Bardak; M. Gunay; Y. Ercalik; Y. Bardak; H. Ozbas; O. Bagci
2017 Feb 08
Alleles; Asians; 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
2017 Mar 15
Adult; Asians; 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