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Genetic Testing and Molecular Biomarkers

Xiaoming Li, Xingbo Dang, Yongyi Cheng, Duping Zhang, Xinyu Zhang, Tiejun Zou, Junping Xing
OBJECTIVE: Kidney stone formation is a complex disorder that likely results from both dietary and genetic factors. A recent study identified an association between the risk of kidney stones and polymorphisms in the ALPL gene, but the study needs replication. To confirm whether the ALPL gene is universally associated with kidney stones, the present study further investigated polymorphisms of the ALPL gene in a Han Chinese population. METHODS: A total of 331 kidney stone patients and 553 unrelated healthy controls were included in the present case-control study...
February 28, 2018: Genetic Testing and Molecular Biomarkers
Xiaona Jin, Baozhen Zhou, Dangfeng Zhang
BACKGROUND: Previous studies have suggested that tumor necrosis factor a (TNF-a), encoded by TNF gene, can increase osteoclast formation, and that specific alleles of the TNF gene are associated with postmenopausal osteoporosis susceptibility in some populations; however, the exact molecular mechanism remains unknown. AIMS: To investigate the potential association of nineteen polymorphisms of the TNF gene with postmenopausal osteoporosis and bone mineral density (BMD) traits in a sample of 1288 postmenopausal women from the Han Chinese population...
February 26, 2018: Genetic Testing and Molecular Biomarkers
Cyril Cyrus, Mona H Ismail, Shahanas Chathoth, Chittibabu Vatte, Majd Hasen, Amein Al Ali
BACKGROUND: Obesity has reached epidemic proportions worldwide resulting in a serious public health problem. In Saudi Arabia, 28.7% of the population is obese due largely to the adoption of western dietary patterns over the last decade. The Fat-mass and obesity associated (FTO) and melanocortin-4 receptor (MC4R) genes are ubiquitously expressed in the brain and pancreatic islets, and are the main link between the central nervous system and energy homeostasis based on food intake and energy expenditure...
February 21, 2018: Genetic Testing and Molecular Biomarkers
Eric Vermeulen, Susanne Rebers, Neil K Aaronson, Alexander P Brandenburg, Flora E van Leeuwen, Marjanka K Schmidt
AIMS: To investigate the attitudes of patients toward the return of individual research results from scientific research with residual tissue. METHODS AND FINDINGS: We recruited 1319 patients from 6 Dutch hospitals. In total, 673 patients (51% response rate) completed the questionnaire and 146 were interviewed. Based on the questionnaire data, the majority of respondents (92%) wanted to be informed of incidental findings about both a curable (92%) and an incurable (76%) disease...
February 20, 2018: Genetic Testing and Molecular Biomarkers
Yifang Hu, Kuanfeng Xu, Lin Jiang, Lijuan Zhang, He Shi, Dai Cui
AIMS: In this article, we conducted an updated meta-analysis with trial sequential analysis (TSA) to refine the associations between three common single nucleotide polymorphisms (SNPs) in the CTLA-4 gene (+49A/G, CT60, and -318C/T) and Hashimoto's thyroiditis (HT). METHODS: Statistical association analyses were performed using four genetic models, including the allelic, codominant, dominant, and recessive models with the Revman 5.3, Stata 14.0, and TSA 0.9 software...
February 20, 2018: Genetic Testing and Molecular Biomarkers
Yuriy I Grinshtein, Aleksandra A Kosinova, Igor Y Grinshtein, Tatyana N Subbotina, Andrey A Savchenko
AIM: To determine if there is an association between the single nucleotide polymorphisms (SNPs): rs2046934, rs1126643, rs5918, rs6065, rs4244285; rs4986893 and the occurrence of cardiovascular events (CVE) in patients following coronary artery bypass grafting (CABG) surgery. MATERIALS AND METHODS: The study included 130 CABG patients with stable angina grades II-IV. After CABG 69 of the patients were treated with acetylsalicylic acid (ASA) alone, and 61 received dual antiplatelet therapy (ASA+clopidogrel)...
February 20, 2018: Genetic Testing and Molecular Biomarkers
Juan Ni, Yaoxian Liu, Tao Zhou, Xiayu Wu, Xu Wang
OBJECTIVE: One-carbon metabolism (OCM) is essential for DNA synthesis and methylation. Single nucleotide polymorphisms (SNPs) within OCM genes may affect folic acid (FA) metabolism, disrupt homocysteine (Hcy) homeostasis, and increase the risk of disease. This study investigated the relationship between SNPs in key OCM genes and their association with blood FA and Hcy levels in a healthy population in Yunnan, China. METHODS: Six SNPs within five key OCM genes (MTHFR C677T, MTHFR A1298C, MS A2756G, MTRR A66G, CBS T833C, and SHMT C1420T) were genotyped in 300 healthy volunteers (148 males and 152 females) using polymerase chain reaction/restriction fragment length polymorphism...
February 16, 2018: Genetic Testing and Molecular Biomarkers
Min Lin, Jianying Zhu, Yonggui Yuan, Lie Ren, Mincai Qian, Zhongxia Shen, Yongliang Shao, Xinhua Shen
BACKGROUND AND AIM: This study was designed to explore the relationship between the brain-derived neurotrophic factor (BDNF) Val66Met polymorphism and antidepressants' efficacy in the Chinese Han population with generalized anxiety disorder (GAD). MATERIALS AND METHODS: We recruited 206 patients who met the diagnostic criteria for GAD into the test group, and assigned 209 healthy participants to the control group. All participants were genotyped for the BDNF Val66Met polymorphism...
February 15, 2018: Genetic Testing and Molecular Biomarkers
Cvetka Pernat Drobež, Ivan Ferkolj, Uroš Potočnik, Katja Repnik
AIM: Crohn's disease (CD) patients are mostly diagnosed with the uncomplicated inflammatory form of disease; however, the majority of them will progress to complicated stricturing or penetrating disease over time. It is important to identify patients at risk for disease progression at an early stage. The aim of our study was to examine the role of 33 candidate CD genes as possible predictors of disease progression and their influence on time to progression from an inflammatory to a stricturing or penetrating phenotype...
February 15, 2018: Genetic Testing and Molecular Biomarkers
Mu Yang, Shujin Li, Wenjing Liu, Yeming Yang, Lin Zhang, Shanshan Zhang, Zhilin Jiang, Zhenglin Yang, Xianjun Zhu
BACKGROUND: Retinitis pigmentosa (RP) is a group of inherited retinal diseases that result in severe progressive visual impairment. AIMS: The purpose of this article was to apply targeted next-generation sequencing (NGS) to identify the causative mutation in a Chinese RP family. METHODS: Blood samples were collected from a Chinese proband diagnosed with RP and her family members. A total of 163 genes that have been previously found to be involved in inherited retinal diseases were selected for NGS...
February 13, 2018: Genetic Testing and Molecular Biomarkers
Biyuan Qiu, Tao Ma, Chunyan Peng, Xiaoqin Zheng, Jiyun Yang
BACKGROUND: The diagnosis of oculocutaneous albinism (OCA) is established using clinical signs and symptoms. OCA is, however, a highly genetically heterogeneous disease with mutations identified in at least nineteen unique genes, many of which produce overlapping phenotypic traits. Thus, differentiating genetic OCA subtypes for diagnoses and genetic counseling is challenging, based on clinical presentation alone, and would benefit from a comprehensive molecular diagnostic. AIM: To develop and validate a more comprehensive, targeted, next-generation-sequencing-based diagnostic for the identification of OCA-causing variants...
February 13, 2018: Genetic Testing and Molecular Biomarkers
Amjad Khan, Rongrong Wang, Shirui Han, Wasim Ahmad, Xue Zhang
AIMS: To identify the pathogenic mutation underlying microcephaly primary hereditary (MCPH) in a large consanguineous Pakistani family. METHODS: A five-generation family with an autosomal recessive transmission of MCPH was recruited. Targeted next-generation DNA sequencing was carried out to analyze the genomic DNA sample from the proband with MCPH using a previously designed panel targeting 46 known microcephaly-causing genes. Sanger sequencing was performed to verify all identified variants...
February 12, 2018: Genetic Testing and Molecular Biomarkers
Xiaofeng Zhao, Yinghua Zhang, Hong Li, Qian Liu, Qingqing Zhang, Hengfen Li
BACKGROUND: The G1287A polymorphism (rs5569) in exon 9 of the norepinephrine transporter (NET) gene has been associated with schizophrenia in several populations. However, the results are conflicting. Moreover, few studies have investigated the relationship between the G1287A polymorphism and schizophrenia among the Chinese Han population. METHODS: A case-control study was designed to explore whether the G1287A genetic variant is related to schizophrenia in the Chinese Han population...
February 12, 2018: Genetic Testing and Molecular Biomarkers
Julie Dutil, Lenin Godoy, Rafael Rivera-Lugo, Nelly Arroyo, Elinette Albino, Luis Negrón, Alvaro N Monteiro, Jaime L Matta, Miguel Echenique
BACKGROUND: The role of deep intronic variants in hereditary cancer susceptibility has been largely understudied. Previously, the BRCA2 c.6937 + 594T>G variant has been shown to preferentially promote the inclusion of a 95 nucleotide cryptic exon and to introduce a premature termination codon. Our objective was to further assess the pathogenicity of the BRCA2 c.6937 + 594T>G deep intronic variant. PATIENTS AND METHODS: We examined the association between BRCA2 c...
January 22, 2018: Genetic Testing and Molecular Biomarkers
Thomas Frawley, Cathal P O'Brien, Eibhlin Conneally, Elisabeth Vandenberghe, Melanie Percy, Stephen E Langabeer, Karl Haslam
BACKGROUND: The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs), consisting of polycythemia vera, essential thrombocythemia, and primary myelofibrosis, are a heterogeneous group of neoplasms that harbor driver mutations in the JAK2, CALR, and MPL genes. The detection of these mutations has been incorporated into the recent World Health Organization (WHO) diagnostic criteria for MPN. Given a pressing clinical need to screen for these mutations in a routine diagnostic setting, a targeted next-generation sequencing (NGS) assay for the detection of MPN-associated mutations located in JAK2 exon 14, JAK2 exon 12, CALR exon 9, and MPL exon 10 was developed to provide a single platform alternative to reflexive, stepwise diagnostic algorithms...
January 11, 2018: Genetic Testing and Molecular Biomarkers
Irena Manolova, Lyuba Miteva, Mariana Ivanova, Todor Kundurzhiev, Rumen Stoilov, Spaska Stanilova
AIMS: We investigated the individual and combined effect of functional TNFA -308G/A and IL10 -1082G/A single nucleotide polymorphisms (SNPs) and their genotypes on the susceptibility to systemic lupus erythematosus (SLE) in a Bulgarian population. MATERIALS AND METHODS: Genotyping for -1082A/G IL10 (rs1800896) and -308G/A TNFA (rs1800629) polymorphisms was performed for 154 SLE patients and 224 healthy controls. RESULTS: An association between SLE and the rs1800629 polymorphism was established under the allelic model (allele A vs...
January 3, 2018: Genetic Testing and Molecular Biomarkers
Lei Li, Tienan Feng, Jinli Qu, Nannan Feng, Yu Wang, Rong-Na Ma, Xue Li, Zhi-Jie Zheng, Herbert Yu, Biyun Qian
OBJECTIVE: To determine if lncRNA expression can be used for the prognoses of patients diagnosed with lung adenocarcinoma (LUAD) patients. METHODS: The Cancer Genome Atlas database was used to identify 409 LUAD patients for whom there was both, gene expression data and relevant clinical information available. LncRNAs were then selected from the expression data through record linkage between the National Center for Biotechnology Information (NCBI) and Ensemble databases...
January 3, 2018: Genetic Testing and Molecular Biomarkers
Zheng Wang, Xiang-Yu Wang, Juan Li, Wen-Wei Zhu
BACKGROUND AND AIMS: The prognostic value of BRCA1-associated protein 1 (BAP1) expression in different cancer types remains controversial. The aim of this study was to identify the prognostic and clinicopathological significance of BAP1 gene expression. MATERIALS AND METHODS: The PubMed, Web of Science, and Embase databases were searched comprehensively for relevant studies. The pooled effects were calculated to investigate the association of BAP1 expression with cancer prognosis and clinicopathological features...
December 21, 2017: Genetic Testing and Molecular Biomarkers
Xiaoyan Qian, Daoxia Guo, Hui Zhou, Jing Qiu, Jie Wang, Chong Shen, Zhirong Guo, Yong Xu, Chen Dong
AIMS: To explore the interactions between PPARG and AGTR1 polymorphisms and their associations with hypertension in the Chinese Han population. METHODS: Seven single nucleotide polymorphisms (SNPs) of the PPARG gene and five SNPs of the AGTR1 gene were selected and genotyped in 1591 unrelated Chinese Han adults. The SNPAssoc package of R was used to analyze the associations between the selected SNPs and hypertension. The potential gene-gene interactions between PPARG and AGTR1 genes were tested by model-based multifactor dimensionality reduction (MB-MDR)...
December 21, 2017: Genetic Testing and Molecular Biomarkers
Fangfang Chen, Shuai Yin, Li Niu, Jun Luo, Bicheng Wang, Zhigao Xu, Guifang Yang
AIM: The aim of this study was to investigate whether CXCR3 expression is associated with: infiltration of dendritic cells (DCs) and CD4+ and CD8+ tumor-infiltrating lymphocytes (TILs); various clinical features; and overall survival (OS) of patients diagnosed with gastric cancer (GC). MATERIALS AND METHODS: The study included 169 GC specimens and 91 corresponding paracancerous tissues. Immunohistochemistry was conducted to determine the expression of CXCR3 and the presence of DCs and CD4+ and CD8+ TILs...
December 21, 2017: Genetic Testing and Molecular Biomarkers
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