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Genetic Testing and Molecular Biomarkers

Liang Guo, Liqiang Zheng, Xiaofan Guo, Ye Chang, Xinghu Zhou, Yingxian Sun
BACKGROUND: Complement component 5 (C5) has been described to play an important role in the development and progression of atherosclerosis and cardiovascular disease. Our aim was to determine whether genetic variation of C5 was associated with ischemic stroke (IS) in northeast Chinese population. METHODS: We used a case-control study involving 386 IS patients and 386 non-IS controls from a rural population and determined the genotypes of five polymorphisms (rs12237774, rs17611, rs4837805, rs7026551, and rs1017119) of C5 gene by Snapshot single-nucleotide polymorphism genotyping assays to assess any links with IS...
October 21, 2016: Genetic Testing and Molecular Biomarkers
Guozhong Jiang, Chenglin Luo, Miaomiao Sun, Zhihua Zhao, Wencai Li, Kuisheng Chen, Tianli Fan
AIM: Increased DNA methylation within the promoter regions of tumor suppressor genes has been associated with gene silencing in various cancers. CDX2, a caudal-related homeobox transcription factor, represents a key tumor suppressor in colorectal cancer. However, the pathological role of its promoter methylation has not yet been well defined in colorectal cancer. METHODS: We measured CDX2 promoter methylation by methylation-specific PCR (MSP) and CDX2 mRNA levels by real-time quantitative reverse transcription-PCR in both tumor and normal control tissues collected from 108 colorectal cancer patients and then performed correlation analyses...
October 18, 2016: Genetic Testing and Molecular Biomarkers
Michael P Palmer, Rachael Melton-Kreft, Laura Nistico, N Louisa Hiller, Leon H J Kim, Gregory T Altman, Daniel T Altman, Nicholas G Sotereanos, Fen Z Hu, Patrick J De Meo, Garth D Ehrlich
BACKGROUND: Preliminary studies have identified known bacterial pathogens in the knees of patients with osteoarthritis (OA) before arthroplasty. AIMS: The current study was designed to determine the incidence and types of bacteria present in the synovial fluid of native knee joints from adult patients with diagnoses of septic arthritis and OA. PATIENTS AND METHODS: Patients were enrolled between October 2010 and January 2013. Synovial fluid samples from the affected knee were collected and evaluated with both traditional microbial culture and polymerase chain reaction-electrospray ionization-time-of-flight mass spectrometry (molecular diagnostics [MDx]) to prospectively characterize the microbial content...
October 17, 2016: Genetic Testing and Molecular Biomarkers
Monica Marabelli, Valeria Molinaro, Raefa Abou Khouzam, Enrico Berrino, Mara Panero, Antonella Balsamo, Tiziana Venesio, Guglielmina Nadia Ranzani
AIMS: Colorectal adenomatous polyposis entailing cancer predisposition is caused by constitutional mutations in different genes. APC is associated with the familial adenomatous polyposis (FAP/AFAP) and MUTYH with the MUTYH-associated polyposis (MAP), while POLE and POLD1 mutations cause the polymerase proofreading-associated polyposis (PPAP). METHODS: We screened for mutations in patients with multiple adenomas/FAP: 121 patients were analyzed for APC and MUTYH mutations, and 36 patients were also evaluated for POLE and POLD1 gene mutations...
October 5, 2016: Genetic Testing and Molecular Biomarkers
Shou-Chu Chou, How-Wen Ko, Ying-Chin Lin
OBJECTIVE: To explore the associations of single-nucleotide polymorphisms (SNPs) of the C-reactive protein (CRP), interleukin 6 (IL-6) and IL-10 genes with susceptibility and severity of community-acquired pneumonia (CAP). MATERIALS AND METHODS: Two hundred seventy-nine CAP patients were selected for the case group and 156 healthy individuals for the control group. Polymerase chain reaction-restriction fragment length polymorphism was performed for genotyping of CRP +1059G/C (rs1800947) and +1846C/T (rs1205), IL-6 -597G/A (rs1800797) and -572C/G (rs1800796), and IL-10 -592C/A (rs1800872) and -1082G/A (rs1800896)...
October 5, 2016: Genetic Testing and Molecular Biomarkers
Dale Wright, Louise Carey, Siobhan Battersby, Thuy Nguyen, Melanie Clarke, Benjamin Nash, Elee Gulesserian, Jill Cross, Artur Darmanian
AIM: Validation of a chromosomal microarray for improved prenatal diagnosis for chromosomal abnormalities among high-risk pregnancies. METHODS: A cohort of 213 pregnancies was investigated by chromosomal microarray and the results were compared with quantitative fluorescent polymerase chain reaction (QF-PCR), karyotype, and 850K single-nucleotide polymorphism microarray results. The detection limit of mosaicism was determined by assaying different trisomy mosaic constructs down to ∼12%...
September 30, 2016: Genetic Testing and Molecular Biomarkers
Oscar Swift, Enric Vilar, Belinda Rahman, Lucy Side, Daniel P Gale
AIMS: No recommendations currently exist regarding implementation of both prenatal diagnosis and preimplantation genetic diagnosis (PGD) for autosomal dominant polycystic kidney disease (ADPKD). This study evaluated attitudes in ADPKD patients with either chronic kidney disease (CKD) stages I-IV or end-stage renal failure (ESRF) toward prenatal diagnosis and PGD. METHODS: Ninety-six ADPKD patients were recruited from an outpatient clinic, wards, and dialysis units...
September 30, 2016: Genetic Testing and Molecular Biomarkers
Wafa Omer, Abdul K Naveed, Omer J Khan, Dilshad A Khan
AIMS: Pro- and anti-inflammatory cytokines play a significant role in early atherosclerosis. Linkage disequilibrium patterns differ between ethnic groups pointing toward the need to develop population-specific gene risk scores. Our objective was to investigate the role of a cytokine gene score in the risk prediction of premature coronary artery disease (PCAD). METHODS: A case-control study was performed at the National University of Sciences and Technology (NUST) in collaboration with the Cardiovascular Genetics Institute, University College London, United Kingdom...
September 30, 2016: Genetic Testing and Molecular Biomarkers
Gui-Long Wang, Yu-Bo Wu, Jia-Tian Liu, Cui-Yun Li
OBJECTIVE: We aimed to investigate the effects of microRNA-98 (miR-98) on apoptosis in cartilage cells in osteoarthritis (OA) patients. METHODS: Knee cartilage tissue samples were collected from 31 OA patients, 21 autopsies, and 26 amputation patients due to trauma. The clinicopathological data were recorded. Quantitative real-time polymerase chain reaction was performed to compare the miR-98 expression levels from cartilage cells obtained from the OA and non-OA patients...
September 27, 2016: Genetic Testing and Molecular Biomarkers
Jorge Alejandro Alegría-Torres, Marion Velázquez-Villafaña, Juan Manuel López-Gutiérrez, Marcela M Chagoyán-Martínez, Diana O Rocha-Amador, Rogelio Costilla-Salazar, Lizeth García-Torres
AIM: The purpose of this study was to determine the correlation between telomere length (TL) and mitochondrial DNA copy number (mtDNAcn) in children. METHODS: Leukocyte TL and mtDNAcn were measured by real-time PCR in 98 Mexican children 6-12 years of age from Salamanca, México. RESULTS: A positive association was found between TL and mtDNAcn after a natural log transformation (Pearson correlation r = 0.72; p < 0.0001). No correlation between age and body mass index (BMI) biomarkers was found, and no differences according to sex were observed...
September 13, 2016: Genetic Testing and Molecular Biomarkers
Altaf A Kondkar, Ahmed Mousa, Taif A Azad, Tahira Sultan, Faisal A Almobarak, Abdullah Alawad, Saleh Altuwaijri, Saleh A Al-Obeidan, Khaled K Abu-Amero
AIMS: To investigate the association between the rs1900004 polymorphism in the atonal bHLH transcription factor 7 (ATOH7) gene and primary open angle glaucoma (POAG) in Saudi patients. METHODS: Eighty-seven unrelated POAG cases and 94 unrelated control subjects of Saudi origin were genotyped utilizing a TaqMan(®) assay. The association between mutant genotypes and POAG and its related clinical indices was investigated. RESULTS: The genotype and allele frequencies of the polymorphism in ATOH7 did not show any statistically significant association with POAG compared to controls...
September 12, 2016: Genetic Testing and Molecular Biomarkers
Ana Miriam Saldaña-Cruz, Lilia Carolina León-Moreno, José Sánchez-Corona, Daniel Alejandro Márquez-de Santiago, Francisco Mendoza-Carrera, Xochitl Helga Castro-Martínez, Alejandra Guadalupe García-Zapién, María Cristina Morán-Moguel, Silvia Esperanza Flores-Martínez
AIMS: Polymorphisms in the CYP2C9 and CYP2C19 genes confer potential risk for specific adverse drug reactions and therapeutic effect failure. Their frequencies differ among ethnic groups. This study was aimed to describe the distribution of CYP2C9 and CYP2C19 alleles and haplotypes in four Mestizo populations from Western Mexico and their comparison with the reported data from other ethnic groups. METHODS: The CYP2C alleles (CYP2C9*2, CYP2C9*3, CYP2C19*2, and CYP2C19*3) were genotyped using polymerase chain reaction-restriction fragment length polymorphisms analyses using DNA samples from 477 healthy Mestizo individuals of Colima (n = 100), Jalisco (n = 147), Michoacán (n = 117), and Nayarit (n = 113)...
September 12, 2016: Genetic Testing and Molecular Biomarkers
Cecilia Mathó, Gabriela Sansó, Blanca Diez, Marta Barontini, Patricia A Pennisi
AIMS: von Hippel-Lindau (VHL) disease is caused by mutations in the VHL tumor suppressor gene. As tumors that develop in the context of VHL also occur in a sporadic context, the frequency of this syndrome may be underestimated. Our aim was to identify VHL gene mutations in Argentinian patients who fulfilled the clinical criteria for type 1 VHL disease and in patients with VHL-associated manifestations that did not meet these criteria. METHODS: We performed a retrospective cohort study, including patients who met current diagnostic criteria for type 1 VHL (Group 1, n = 19) and patients with VHL-associated manifestations that did not meet these criteria (Group 2, n = 21)...
September 12, 2016: Genetic Testing and Molecular Biomarkers
Shicheng Liu, Shuang Qiu, Yuping Lu, Joseph Sam Kanu, Ri Li, Ye Bai, Xiaojuan Zhu, Jie Lei, Naijun Xu, Yaqin Yu, Yawen Liu, Huiyi Jiang
AIM: To investigate the association between autism spectrum disorder (ASD) and the phospholipase A2 group IVC (PLA2G4C) and phospholipase A2 group XIIA (PLA2G12A) polymorphisms in the Northeast Han Chinese population. MATERIALS AND METHODS: A total of 68 family trios (children diagnosed with ASD and their unaffected parents) were enrolled. Five single-nucleotide polymorphisms (SNPs) (rs9226, rs1045376, rs251684, rs2307279, and rs156631) in PLA2G4C and four SNPs (rs6533451, rs2285714, rs2285713, and rs11728699) in PLA2G12A were selected and genotyped...
September 9, 2016: Genetic Testing and Molecular Biomarkers
Xinglong Yang, Quanzhen Zhao, Ran An, Huayong Zhou, Zhenfang Lin, Yanming Xu
AIMS: The single-nucleotide polymorphism, rs1805874, in the Calbindin1 gene has been associated with Parkinson's disease among the Japanese people, but not among Europeans or Americans. To help clarify these contrasting results, we conducted a case-control study to explore whether such an association exists among the Han Chinese. METHODS: We used the ligase detection reaction to genotype the rs1805874 SNP in 514 Han Chinese with Parkinson's disease as well as in 475 healthy Han Chinese controls...
September 9, 2016: Genetic Testing and Molecular Biomarkers
Siqi Chen, Cheng Dong, Qi Wang, Zhen Zhong, Yu Qi, Xiaomei Ke, Yuhe Liu
AIMS: We attempted to identify the genetic epidemiology of hereditary hearing loss among the Chinese Han population using next-generation sequencing (NGS). MATERIALS AND METHODS: The entire length of the genes GJB2, SLC26A4, and GJB3, as well as exons of 57 additional candidate genes were sequenced from 116 individuals suffering from hearing loss. RESULTS: Thirty potentially causative mutations from these 60 genes were identified as the likely etiologies of hearing loss in 67 of the cases...
September 9, 2016: Genetic Testing and Molecular Biomarkers
Min Kyung Lee, Hyun Sub Cheong, Youngil Koh, Kwang-Sung Ahn, Sung-Soo Yoon, Hyoung Doo Shin
AIMS: Some members of the poly ADP-ribose polymerase (PARP) family have been regarded as targets for the therapeutic inhibition of cancer. Among these PARP genes, poly ADP-ribose polymerase family, member 15 (PARP15) is a candidate gene for cancer development due to its ability to regulate gene transcription and its reported association with apoptosis. The current study investigated the possible association between PARP15 single-nucleotide polymorphisms and the risk of acute myeloid leukemia (AML)...
September 9, 2016: Genetic Testing and Molecular Biomarkers
Jiashun Zeng, Qiong Wen, Rong Rong, Fengxian Huang, Qiongqiong Yang, Xueqing Tang, Feng He, Naya Huang, Xueqing Yu
AIMS: The purpose of this study was to identify predictive markers of irbesartan (an angiotensin receptor blocker) treatment response in immunoglobulin A nephropathy (IgAN) patients. METHODS: Urine samples were collected both before and after irbesartan treatment in IgAN patients and compared with urine from healthy volunteers. The total urinary protein produced in 24 h was measured to determine therapeutic response. The urinary proteome was evaluated by two-dimensional gel electrophoresis coupled with MALDI-TOF-MS/MS analysis...
September 7, 2016: Genetic Testing and Molecular Biomarkers
Monisha Swaminathan, Vijaya Ganesh, Teena Koshy, Priyanka Venugopal, Solomon Paul, Vettriselvi Venkatesan
BACKGROUND: Female infertility is often of unknown etiology and is a significant medical problem. It occurs when implantation does not occur; a fertilized embryo fails to survive after implantation; or when the egg cannot move from the ovary to the uterus. The aim of this study was to analyze the role of estrogen receptor 1 (ESR1) genotypes in female infertility. METHODS: Blood samples were collected from 114 women with infertility undergoing infertility treatment...
August 30, 2016: Genetic Testing and Molecular Biomarkers
Nawel Jaafar, Juan Gómez, Ikram Kammoun, Ihsen Zairi, Wael Ben Amara, Salem Kachboura, Sondes Kraiem, Mohamed Hammami, Sara Iglesias, Belén Alonso, Eliecer Coto
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a common genetic cardiac disorder associated with heart failure and sudden death. Mutations in the cardiac sarcomere genes are found in approximately half of HCM patients and are more common among cases with a family history of the disease. Data about the mutational spectrum of the sarcomeric genes in HCM patients from Northern Africa are limited. The population of Tunisia is particularly interesting due to its Berber genetic background...
August 30, 2016: Genetic Testing and Molecular Biomarkers
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