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Genetic Testing and Molecular Biomarkers

Jie Wu, Yusi Wang, Lihua Shang, Lichun Qi, Mowei Song
AIMS: microRNAs (miRNA) play a key role in the pathogenesis of breast cancer (BC) as regulators of tumor-associated genes, and understanding their polymorphisms is critical to the control of breast carcinogenesis. Thus, the present study explored the association between five common functional polymorphisms in miRNAs (i.e., miRNA-196a2C>T, rs11614913; miRNA-146aG>C, rs2910164; miRNA-423C>A, rs6505162; miRNA-608G>C, rs4919510; miRNA-27aC>T, rs895819) and the risk of BC. MATERIALS AND METHODS: Meta-analyses were performed on 31 studies, including 14,677 BC patients and 16,143 cancer-free controls...
May 21, 2018: Genetic Testing and Molecular Biomarkers
Haiyan Wu, Lingxi Jiang, Rui Zheng, Dongyan Luo, Xiaoqi Liu, Fang Hao, Zhilin Jiang, Bo Gong, Zhenglin Yang, Yi Shi
PURPOSE: To evaluate the association between high myopia (HM) and single nucleotide polymorphisms (SNPs) in collagen, type XI, alpha 1 (COL11A1) and collagen, type XVIII, alpha 1 (COL18A1) genes in a Han Chinese population. MATERIALS AND METHODS: A total of 869 patients with HM and 804 controls were recruited for this study. The genotyping of five SNPs in COL11A1 and COL18A1 was performed using the SNaPshot method. The genotyping data were analyzed using the χ2 test, and the linkage disequilibrium block structure was calculated and examined by Haploview software...
May 21, 2018: Genetic Testing and Molecular Biomarkers
Dazhi Wang, Shuyu Zhang, Fufeng Chen
BACKGROUND: PLOD1 (procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1) is important for extracellular matrix formation and is involved in various diseases, including cancer; however, its role in gastrointestinal cancer is unclear. In this study, the expression of PLOD1 in gastrointestinal carcinoma and its relationships with patient survival were examined. MATERIALS AND METHODS: Sample expression profiles were downloaded from the Gene Expression Omnibus database and methylation data were obtained from the Cancer Genome Atlas...
May 3, 2018: Genetic Testing and Molecular Biomarkers
Bao-Xin Qian, Qing Ye, Xin-Yu Zhao, Tao Han, Feng-Mei Wang, Jie Yang
BACKGROUND: Single nucleotide polymorphisms of the IL10 gene have been linked to the occurrence of autoimmune liver disease. METHODS: We performed a meta-analysis to assess the association between three IL10 promoter polymorphisms (rs1800896, rs1800871, and rs1800872) and the risk of autoimmune hepatitis, primary biliary cholangitis, and primary sclerosing cholangitis. RESULTS: In total, 1420 articles were initially identified through database retrieval...
April 25, 2018: Genetic Testing and Molecular Biomarkers
Jingru Wang, Juehua Xu, Jie Liu, Huang Zhu, Yanyan Peng, Zhi-Ming Ding, Haiqing Hua
BACKGROUND: The cannabinoid receptor 2 (CB2R) is primarily expressed in immune tissues and implicated in immune regulation. In models of inflammatory diseases, modulation of CB2R alters function of immune cells and affects the progression of disease. We therefore believe that CB2R modulation could be a promising therapy for inflammatory diseases. In humans, the nonsynonymous mutation Q63R, the most common variant of the CB2 receptor, has been found to be associated with multiple diseases, including idiopathic arthritis, obesity, and celiac diseases...
April 25, 2018: Genetic Testing and Molecular Biomarkers
Hossein Pashaiefar, Marzieh Izadifard, Marjan Yaghmaie, Maryam Montazeri, Elahe Gheisari, Mohammad Ahmadvand, Majid Momeny, Seyed Hamid Ghaffari, Amir Kasaeian, Kamran Alimoghaddam, Ardeshir Ghavamzadeh
AIMS: Deregulation of the long noncoding RNA IRAIN has been identified in several cancers. However, the expression pattern of IRAIN and its clinical implication in acute myeloid leukemia (AML) is unknown. The purpose of this study was to investigate the expression status of IRAIN and its clinical significance in non-M3 AML patients. METHODS: Quantitative reverse transcription-polymerase chain reaction was performed to examine IRAIN transcript levels in 64 de novo non-M3 AML patients and 51 healthy controls...
April 10, 2018: Genetic Testing and Molecular Biomarkers
Florinda da Silva, Noel Pabalan, Niramai Ekaratcharoenchai, Ary Serpa Neto, Denise Maria Christofolini, Renato de Oliveira, Bianca Bianco, Caio Parente Barbosa
AIMS: Steroid hormones play a central role in modulating the growth of uterine leiomyoma, and several studies have suggested that polymorphisms in genes encoding these hormones and their receptors may be risk factors for developing the disease. Progesterone is a potent antagonist of estrogen-induced proliferation in the endometrium, and the PROGINS polymorphisms have been associated with leiomyoma, but the results are inconsistent. In this study, we aimed to investigate the possible associations between the PROGINS polymorphisms and uterine leiomyoma...
April 9, 2018: Genetic Testing and Molecular Biomarkers
Alexander Varzari, Elena Tudor, Nina Bodrug, Andrei Corloteanu, Ecaterina Axentii, Igor V Deyneko
OBJECTIVES: Chemokines play a key role in immune regulation and response, and have been implicated in the pathogenesis of tuberculosis (TB). In this study, we investigated whether functional polymorphisms of the chemokines CCL5, CCL2, and CXCL8 are associated with pulmonary TB in a Moldavian population. MATERIALS AND METHODS: A total of 250 patients with TB and 184 healthy controls were screened for CCL5 -403G/A (rs2107538), CCL5 In1.1T/C (rs2280789), CCL2 -2518A/G (rs1024611), and CXCL8 -251A/T (rs4073) polymorphisms using standard polymerase chain reaction techniques...
April 2, 2018: Genetic Testing and Molecular Biomarkers
Alejandrina Muñoz-Palomeque, Miguel Angel Guerrero-Ramirez, Lidia Ariadna Rubio-Chavez, Roberto Carlos Rosales-Gomez, Maria Guadalupe Lopez-Cardona, Victor Hugo Barajas-Avila, Alfredo Delgadillo-Barrera, Juan Carlos Canton-Romero, Hector Montoya-Fuentes, Teresa Arcelia Garcia-Cobian, Susan Andrea Gutierrez-Rubio
BACKGROUND: Breast cancer is the most common cancer in women worldwide. Approximately 70% of female breast cancer patients have a body mass index (BMI) >25. In obesity, adipose tissue secretes additional resistin, which prompts a proinflammatory effect through its action on adenylate cyclase-associated protein 1 (CAP1). Several studies have associated the RETN gene single nucleotide polymorphism (SNP) rs1862513 (-420C<G) with serum resistin levels and breast cancer. The CAP1 gene SNP rs35749351 (missense, Arg294His), located in the extracellular domain, has not previously been studied in cancer...
March 20, 2018: Genetic Testing and Molecular Biomarkers
Julija Brozaitiene, Daina Skiriute, Julius Burkauskas, Aurelija Podlipskyte, Edita Jankauskiene, Alessandro Serretti, Narseta Mickuviene
AIM: To investigate the association among deiodinases (DIO), organic anion-transporting polypeptide 1C1 (OATP1C1) gene polymorphisms, and thyroid hormones (THs) in patients with acute myocardial infarction (AMI). METHODS: In summary, 290 patients with AMI were evaluated for sociodemographic and clinical characteristics, coronary artery disease (CAD) risk factors, and comorbidities, as well as circulating thyroid-stimulating hormone and TH (triiodothyronine [T3], thyroxine [T4], free T3, free T4, and reverse T3) levels...
March 20, 2018: Genetic Testing and Molecular Biomarkers
Taimour Langaee, Richard Wagner, Lloyd P Horne, Lee Ann Lawson, Cecilia Becker, Mohamed Shahin, Petr Starostik, Peter W Stacpoole
AIMS: Dichloroacetate (DCA) represents the first targeted therapy for pyruvate dehydrogenase complex deficiency; it is metabolized by glutathione transferase zeta1 (GSTZ1). Variation in the GSTZ1 haplotype is the principal variable influencing DCA kinetics and dynamics in humans. We aimed to develop a sensitive and rapid clinical genetic screening test for determining GSTZ1 haplotype status in individuals who would be treated with DCA, and then apply the test for the investigation of the plasma pharmacokinetics (PK) of DCA as a function of GSTZ1 haplotype...
March 19, 2018: Genetic Testing and Molecular Biomarkers
Lei Chen, Zhengjian Ke, Zhichong Zhou, Xinyi Jiang, Yanhui Zhao, Jingju Zhang
AIM: To determine if there are significant associations between polymorphisms of the IL-1, IL-6, and IL-10 genes and susceptibility to recurrent aphthous stomatitis (RAS). METHODS: The PubMed, Embase, and Web of Science databases were searched for all eligible studies using both medical subheadings and free terms through December 2016. A total of 226 citations were retrieved. Odds ratios were used to quantitatively evaluate the associations of IL-1, IL-6, and IL-10 gene polymorphisms with RAS risk...
March 12, 2018: Genetic Testing and Molecular Biomarkers
Tamara Wurst
No abstract text is available yet for this article.
April 2018: Genetic Testing and Molecular Biomarkers
Feng Qiu, Fanghua Qiu, Lifang Liu, Jiawei Liu, Jianhua Xu, Xianzhang Huang
INTRODUCTION: Hepatocellular carcinoma (HCC) is a major contributor to cancer-related deaths due to its often late stage diagnosis. Our previous study showed that dermcidin (DCD) may have the potential to be used as a serum biomarker for HCC for more timely diagnoses. MATERIALS AND METHODS: In this study, we measured serum DCD and alpha-fetoprotein (AFP) levels in 87 HCC patients; 33 liver cirrhosis (LC); and 44 normal controls (NC), evaluated the relationship between DCD levels and clinicopathological parameters...
April 2018: Genetic Testing and Molecular Biomarkers
Xiaona Jin, Baozhen Zhou, Dangfeng Zhang
BACKGROUND: Previous studies have suggested that tumor necrosis factor α (TNF-α), encoded by the TNFα gene, can increase osteoclast formation, and that specific alleles of the TNFα 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 TNFα gene with postmenopausal osteoporosis and bone mineral density (BMD) traits in a sample of 1288 postmenopausal women from the Han Chinese population...
April 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...
April 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 are any associations 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)...
April 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...
April 2018: Genetic Testing and Molecular Biomarkers
Tamara Wurst, Sharon F Terry
No abstract text is available yet for this article.
March 2018: 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...
March 2018: Genetic Testing and Molecular Biomarkers
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