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Genetic Testing and Molecular Biomarkers

Wei Lei, Yinlan Xia, Yang Wu, Gang Fu, Aishu Ren
OBJECTIVE: We conducted a meta-analysis to investigate the associations of methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, and transcobalamin 2 (TCN2) C776G gene polymorphisms with nonsyndromic cleft lip with or without cleft palate (NSCL/P). MATERIALS AND METHODS: The PubMed, Web of Science, Embase, and Wiley Online Library databases and the China Biomedical Literature Service System (SinoMed) were searched for relevant articles to explore the associations between the MTR A2756G, MTRR A66G, and TCN2 C776G polymorphisms and the risk of NSCL/P...
July 13, 2018: Genetic Testing and Molecular Biomarkers
Zhonghua Chen, Qing Bi, Mingxiang Kong, Yu Chen
AIMS: Multiple exostoses (MO), also referred to as hereditary multiple exostoses (HME), is an autosomal dominant inherited skeletal disorder that has been found to be associated with mutations in the EXT1 and EXT2 genes. In the present study, we report a Chinese family with HME and undertake a mutational analysis of the EXT1 and EXT2 genes in affected and unaffected individuals. METHODS: All exons of the EXT1 and EXT2 genes in seven members of the family were polymerase chain reaction amplified from blood and sequenced...
July 10, 2018: Genetic Testing and Molecular Biomarkers
Zhenyu Liu, Junjuan Li, Kun Wang, Qiang Tan, Wei Tan, Guifang Guo
OBJECTIVE: Asthma is the most common chronic pulmonary disease in China and is characterized by airway inflammation and episodic airflow obstruction. The aim of this meta-analysis was to evaluate the relation of the transforming growth factor-β1 (TGF-β1) polymorphisms with asthma risk in Chinese population. METHODS: PubMed, Springer, EMBASE, MEDLINE, CNKI (China National Knowledge Infrastructure), and Wanfang databases were used to search and retrieve relevant eligible case-control studies published through December 2017...
June 29, 2018: Genetic Testing and Molecular Biomarkers
Marina N Plataki, Maria I Zervou, George Samonis, Vasiliki Daraki, George N Goulielmos, Diamantis P Kofteridis
BACKGROUND: Interleukin 6 (IL-6), a proinflammatory cytokine, is elevated in patients with type 2 diabetes (T2D), and is considered an independent predictor of T2D. IL-6 single-nucleotide polymorphisms (SNPs) have been associated with higher levels of IL-6. This study investigated the role of an IL-6 gene polymorphism and its possible association to T2D in the genetically homogeneous Greek population of the island of Crete. MATERIALS AND METHODS: A total of 144 patients with T2D and 180 controls, all Cretans, selected from the Diabetes Clinic and the Department of Internal Medicine at the University Hospital of Heraklion, Crete, Greece, were genotyped for the IL-6 -174G>C (rs1800795) SNP by the restriction fragment length polymorphism method...
June 29, 2018: Genetic Testing and Molecular Biomarkers
Ying Chan, Baosheng Zhu, Jinman Zhang, Ying Luo, Wenru Tang
AIMS: This is a follow-up study based on the results of our previous article, to further explore the effect of the TP53 codon 72 (rs1042522) and MDM2 SNP309 (rs2279744) polymorphisms on basal follicle-stimulating hormone (FSH)/luteinizing hormone (LH) ratios in infertility women. MATERIALS AND METHODS: The distribution of two genetic polymorphisms (rs1042522 and rs2279744) and basal FSH/LH ratios were tested and analyzed in 1051 in vitro fertilization (IVF) patients at a university-affiliated hospital...
June 29, 2018: Genetic Testing and Molecular Biomarkers
Dan Xie, Kun Peng, Qian Yi, Wenjinag Liu, Yeming Yang, Kuanxiang Sun, Xianjun Zhu, Fang Lu
BACKGROUND: Retinitis pigmentosa (RP) is a rare type of inherited retinal dystrophy that can result in progressive vision loss. Molecular diagnosis of RP is challenging due to phenotypic and genotypic heterogeneities. AIMS: This study aimed to identify the pathogenic mutations in two Chinese families with autosomal dominant RP (adRP) and in a patient with sporadic RP. MATERIALS AND METHODS: Peripheral blood DNA samples were obtained from the participants...
June 29, 2018: Genetic Testing and Molecular Biomarkers
Renji Chen, Siyuan Guo, Xin Wang, Yue Mu, Erling Duan, Yi Xu
AIMS: Nonsyndromic cleft lip with or without palate (NSCL/P) represents a complex condition caused by genetic and environmental factors. The aim of this study was to investigate the relationship between the EPHA3 polymorphisms and NSCL/P. MATERIALS AND METHODS: To investigate the relationship between five EPHA3 single nucleotide polymorphisms (SNPs) and NSCL/P, we selected 180 affected patients and 167 normal controls from the Chinese Han Population. EPHA3 SNPs (rs7650466, rs1398197, rs17801309, rs1054750, and rs7632427) were genotyped using the SNaPshot technique and used to perform bioinformatic analyses to determine if any of them were potentially functional SNPs...
June 22, 2018: Genetic Testing and Molecular Biomarkers
Zuzana Snahnicanova, Andrea Mendelova, Marian Grendar, Veronika Holubekova, Martina Kostkova, Katarina Pozorciakova, Maria Jancinová, Ivana Kasubova, Jarmila Vojtkova, Peter Durdik, Zora Lasabova, Miriam Ciljakova, Peter Banovcin
AIMS: The aim of our study was to investigate possible associations between three SNPs: rs4673 in the CYBA gene; rs1041740 in the SOD1 gene; and rs1001179 in the CAT gene, and type 1 diabetes (T1D) or diabetic peripheral neuropathy (DPN) in T1D patients. MATERIALS AND METHODS: Allelic variants of the selected SNPs were determined by allelic discrimination assays in 114 T1D patients enrolled in the study group and in 90 healthy individuals from a control group. Associations between each of the three SNPs were tested in subgroups of T1D patients divided according to the presence of DPN...
June 20, 2018: Genetic Testing and Molecular Biomarkers
Yuting Xiu, Baosheng Sun, Yongli Jiang, Aifu Wang, Linlin Liu, Ying Liu, Shilong Sun, Mingmei Huangfu
BACKGROUND: Tumor-associated antigen overexpression, which has been reported in many types of cancers, may trigger autoantibody secretion. The present study was designed to test whether levels of circulating autoantibodies to survivin protein-derived antigens is altered in liver, esophageal, breast, and lung cancers. METHODS: Patients with liver (144), esophageal (159), breast (124), and lung cancers (267), and healthy volunteers (362) were recruited for the study, and serum samples were collected for ELISA autoantibody analysis...
June 2018: Genetic Testing and Molecular Biomarkers
Alzira Alves de Siqueira Carvalho, Emmanuele Lacene, Guy Brochier, Clémance Labasse, Angeline Madelaine, Vinicius Gomes da Silva, Roseli Corazzini, Konstantinos Papadopoulos, Anthony Behin, Pascal Laforêt, Tania Stojkovic, Bruno Eymard, Michel Fardeau, Norma Romero
BACKGROUND: Protein aggregate myopathies (PAM) represent a group of familial or sporadic neuromuscular conditions with marked clinical and genetic heterogeneity that occur in children and adults. Familial PAM includes myofibrillar myopathies defined by the presence of desmin-positive protein aggregates and degenerative intermyofibrillar network changes. PAM is often caused by dysfunctional genes, such as DES, PLEC 1, CRYAB, FLNC, MYOT, ZASP, BAG3, FHL1, and DNAJB6. OBJECTIVE: To retrospectively analyze genetic mutations and demographic, clinical, and morphological aspects of PAM in a French population...
June 2018: Genetic Testing and Molecular Biomarkers
Yuan Yuan, Sanyuan Sun, Nanlin Jiao, Yongqian Shu, Youwei Zhang
AIMS: The homeobox (HOX) genes function as transcriptional factors that can promote tumorigenesis. However, the expression profile of HOXA10 and the role this protein plays in solid tumors are unclear. Here we examined HOXA10 protein expression in samples from colorectal cancer (CRC) patients to address the clinical significance of this protein. MATERIALS AND METHODS: Seven independent investigations from the Oncomine database were retrieved. A total of 85 patients who underwent radical excision followed by 5-fluorouracil (5-FU)-based adjuvant chemotherapy were enrolled...
June 2018: Genetic Testing and Molecular Biomarkers
Kelly Rich
No abstract text is available yet for this article.
June 2018: Genetic Testing and Molecular Biomarkers
Han Chen, Lamei Yuan, Zhi Song, Xiong Deng, Zhijian Yang, Lina Gong, Xiaohong Zi, Hao Deng
AIMS: Essential tremor (ET) is one of the most common adult-onset movement disorders. ET and Parkinson's disease (PD) overlap clinically and pathologically, which prompted this investigation into the association of PD risk variants in ET patients. This study was designed to explore the role of variants of two PD-related genes LRRK1 and LRRK2 in a Han Chinese ET population. MATERIALS AND METHODS: Genetic analysis of LRRK1, rs2924835, and LRRK2, rs34594498, rs34410987, and rs33949390 variants was conducted on 200 Han Chinese patients with ET and 434 ethnically matched normal controls...
June 2018: Genetic Testing and Molecular Biomarkers
Hossein Pashaiefar, Marjan Yaghmaie, Javad Tavakkoly-Bazzaz, Seyed Hamid Ghaffari, Kamran Alimoghaddam, Majid Momeny, Pantea Izadi, Marzie Izadifard, Amir Kasaeian, Ardeshir Ghavamzadeh
AIMS: Poly (ADP-ribose) polymerase-1 (PARP-1) plays an important role in the repair of damaged DNA and has prognostic significance in a variety of human malignancies. However, little is known about its expression levels and clinical implication in patients with acute myeloid leukemia (AML). MATERIALS AND METHODS: Quantitative reverse transcription-polymerase chain reaction was done to evaluate PARP-1 expression levels in the bone marrow of 65 patients with non-M3 AML and 54 healthy counterparts...
June 2018: Genetic Testing and Molecular Biomarkers
Xi Wang, Guojun Zhang, Zhe Cheng, Lingling Dai, Liuqun Jia, Xiaogang Jing, Huan Wang, Rui Zhang, Meng Liu, Tianci Jiang, Yuanjian Yang, Meng Yang
BACKGROUND: Noncoding RNAs (ncRNAs), primarily microRNAs and long ncRNAs, play important roles in lung cancer. However, the role of long ncRNA (lncRNA)-X-inactive specific transcript (XIST) in non-small-cell lung cancer (NSCLC) is unclear. The purpose of this study was to explore the biologic function and potential mechanism of XIST in NSCLC progression. MATERIALS AND METHODS: XIST, miR-137, and Notch-1 expression were detected by quantitative real-time PCR (qRT-PCR)...
June 2018: 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...
June 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...
June 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...
June 2018: Genetic Testing and Molecular Biomarkers
Tarja Kunnas, Jaakko Piesanen, Seppo T Nikkari
AIMS: Chromosome locus 9p21.3 CDKN2B antisense RNA 1 (CDKN2B-AS1) has been found to contain multiple genetic markers for coronary artery disease (CAD) by genome-wide association studies (GWAS). Of these, the association of variants rs4977574, rs10757274, and rs2383206 with hypertension was studied in the Tampere adult population cardiovascular risk study (TAMRISK). MATERIALS AND METHODS: A Finnish cohort of 336 subjects diagnosed with hypertension and 444 controls was analyzed...
May 2018: Genetic Testing and Molecular Biomarkers
Yongfeng Yang, Li Li, Fei Chen, Li Zhang, Hong Bu
BACKGROUND: Interleukin-31 (IL-31), a novel T helper type 2 effector cytokine, is known to have an important effect on the pathogenesis of allergic disease and tumors. However, the impact of IL-31 on human lung cancer remains unclear. METHODS: This study explored the role of IL-31 polymorphisms in lung cancer and sought to characterize how IL-31 polymorphisms correlate with lung cancer tumorigenesis and patient survival rates. Using a single-nucleotide polymorphism genotype assay, we examined the expression of two IL-31 polymorphisms (rs7977932 and rs4758680) in samples from 302 lung cancer patients and 493 control cases...
May 2018: Genetic Testing and Molecular Biomarkers
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