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Diana Clobeth Sarrazola, Alejandra Marcela Rodríguez, Martín Toro, Alejandra Vélez, Jorge García-Ramírez, María Victoria Lopera, Cristiam M Álvarez, Vital Balthazar González, Juan Manuel Alfaro, Nicolás Pineda-Trujillo
Introduction: The HLA region strongly associates with autoimmune diseases, such as type 1 diabetes. An alternative way to test classical HLA alleles is by using tag SNP. A set of tag SNP for several classical HLA alleles has been reported as associated with susceptibility or resistance to this disease in Europeans. Objective: We aimed at validating the methodology based on tag SNP focused on the inference of classical HLA alleles, and at evaluating their association with type 1 diabetes mellitus in a sample of 200 families from Antioquia...
September 1, 2018: Biomédica: Revista del Instituto Nacional de Salud
Jean-Benoît Le Luduec, Anupa Kudva, Jeanette E Boudreau, Katharine C Hsu
Allelic diversity of the KIR2DL receptors drive differential expression and ligand-binding affinities that impact natural killer cell function and patient outcomes for diverse cancers. We have developed a global intermediate resolution amplification-refractory mutation system (ARMS) PCR-SSP method for distinguishing functionally relevant subgroups of the KIR2DL receptors, as defined by phylogenetic study of the protein sequences. Use of the ARMS design makes the method reliable and usable as a kit, with all reactions utilizing the same conditions...
October 5, 2018: Scientific Reports
Stalinraja Maruthamuthu, Rajalingam Raja, Kalaimani Pandian, Suresh Madasamy, Mythreyee Manoharan, Leishman Pitchai, Amudhan Murugesan, Jayalakshmi Mariakuttikan
OBJECTIVE: To investigate the role of genotypic and phenotypic characteristics of Killer cell Immunoglobulin like Receptors (KIRs) and their Human Leukocyte Antigen (HLA) class-1 ligands in HIV-1 disease progression. STUDY DESIGN AND METHODS: This is a nested case control study includes 347 HIV sero-positive (HIV-1) individuals from South India comprising 45 Long Term Non Progressors (LTNPs) and 302 disease progressors. KIR genotyping was performed by multiplex sequence-specific primer-directed polymerase chain reaction (SSP-PCR)...
October 4, 2018: AIDS
Chandan K Jha, Rashid Mir, Imadeldin Elfaki, Naina Khullar, Suriya Rehman, Jamsheed Javid, Shaheena Banu, Sukh Mohinder Singh Chahal
AIM: Studies have evaluated the association of miRNA-423 C>A genotyping with the susceptibility to coronary artery disease but the results were contradictory. However, no studies have reported the association between miRNA-423 rs6505162 C>A polymorphism and susceptibility of coronary artery disease. MicroRNAs regulate expression of multiple genes involved in atherogenesis. Therefore, we investigated the association of microRNA-423C>T gene variations with susceptibility to coronary artery disease...
October 4, 2018: Endocrine, Metabolic & Immune Disorders Drug Targets
Zeinab Ebrahim Abadi, Maryam Khademi Bami, Maryam Golzadeh, Seyed Mehdi Kalantar, Mohammad Hasan Sheikhha
Background: Tumor protein p53 ( TP53 ) is a tumor suppressor transcriptional regulator protein which plays a critical role in the spermatogenesis. One of the most important regulators of p53 is Murine double minute 2 ( MDM2 ), which acts as a negative regulator of the p53 pathway. Based on the key role of p53 and MDM2 in germ cell apoptosis, polymorphisms that cause a change in their function might affect germ cell apoptosis and the risk of male infertility. Objective: This study was designed to examine associations of TP53 72 Arg>Pro (rs1042522), and MDM2 309 T>G (rs937283) polymorphisms with spermatogenetic failure in Iranian population...
August 2018: International Journal of Reproductive Biomedicine (Yazd, Iran)
Xiuying Zhao, Dong Zhu, Haojie Zhang, Hongyan Sui, Vincent Poon, Shibo Jiang, Bojian Zheng
The CXCL12 gene produces a series of transcript variants through alternative splicing at the 3' end of its pre-mRNA. This study explores the biological activities of these alternative transcripts and the mechanisms involved in the regulation of CXCL12 transcription and RNA splicing. We identified a "GA" insertion mutation in the region of CXCL12α DNA encoding the conserved 3'UTR. This variant transcript was named CXCL12-3'GA+. The mutation occurred at a frequency of 13.2% in healthy Chinese individuals...
September 28, 2018: Gene
Padma Gunda, Mamata Manne, Syed Saifuddin Adeel, Ravi Kumar Reddy Kondareddy, Padma Tirunilai
The aim of this studywas to identify the gene causing bilateral autosomal dominant zonular congenital cataract (ADZCC) without pulverulent opacities in an extended Muslim family by exome sequencing and subsequent analysis. An extended family of 37 members (14 affected and 23 unaffected) who belong to different nuclear families was screened for causative gene. Proband and her unaffected son were screened for causative variant by exome sequencing followed by Sanger sequencing of the proband's entire nuclear family...
September 2018: Journal of Genetics
R Mir, I A Al Balawi, F M Abu Duhier
Aim: microRNA-423 is an oncogenic factor which is frequently upregulated in cancer. However, associations with breast cancer risk remain inconsistent. Therefore, we investigated the prevalence of microRNA-423 rs6505162C>T gene variation with breast cancer susceptibility in Saudi women. Methodology: This study was conducted on 100 breast cancer patients and 124 matched healthy individuals. Genotyping of the microRNA-423 rs6505162C/T gene variation was performed by using the amplification refractory mutation system PCR method (ARMS-PCR)...
September 26, 2018: Asian Pacific Journal of Cancer Prevention: APJCP
Saima Shakil Malik, Sumaira Mubarik, Nosheen Masood, Muhammad Tahir Khadim
XPG polymorphisms are associated with varied clinical outcomes in different cancers but up-till now no study has been reported on breast cancer. Therefore, current study was aimed to explore the association of breast cancer risk factors and XPG polymorphisms (rs2296147 and rs1047768). It also investigated impact of XPG variants on overall survival and progression free survival among breast cancer cases. A total of 493 histopathologically identified breast cancer cases and 387 healthy females were genotyped by ARMS-PCR...
September 25, 2018: Molecular Biology Reports
Ifa Etesami, Hassan Seirafi, Narges Ghandi, Hamzeh Salmani, Maedeh Arabpour, Ali Nasrollahzadeh, Amir Teimourpour, Maryam Daneshpazhooh, Mohammad Keramatipour
Recently, ST18 polymorphism has played a role in increasing the risk of pemphigus among some populations such as Egyptian and Jewish. In addition, a variant within the ST18 promoter gene was shown to induce ST18 up-regulation and cytokine secretion leading to keratinocyte susceptibility to anti-desmoglein antibodies. Thus, the present study aimed to assess the ST18 single nucleotide polymorphisms (SNP) relationship with pemphigus, disease severity, and family history among Iranian population. A total of 111 pemphigus patients and 201 healthy controls were genotyped for three ST18 SNPs rs2304365, rs10504140, rs4074067 by using TETRA-ARMS PCR method...
September 7, 2018: Experimental Dermatology
Kashif Bashir, Romana Sarwar, Soma Saeed, Ishrat Mahjabeen, Mahmood Akhtar Kayani
Polymorphisms in DNA repair genes may alter the repair mechanism which makes the person susceptible to DNA damage. Polymorphic variants in these DNA repair pathway genes such as Poly (ADP-ribose) polymerase- 1 (PARP1) have been associated with susceptibility of several types of cancer including thyroid. Many studies have been published on PARP1 gene polymorphisms and carcinogenesis with inconsistent results. The present study was designed to explore the link between the PARP1 polymorphisms and thyroid cancer risk...
2018: PloS One
Mengyao Wang, Dunqiang Ren, Caihong Guo, Xiaoqian Ding, Hongmei Wang
BACKGROUND: The clinical features of patients with common single-mutation of epidermal growth factor receptor (EGFR) in non-small cell lung cancer (NSCLC) has been well characterized. There is a high adenocarcinoma incidence rate among female patients with none or shorter smoking history. Those patients have higher objective response rate (ORR) and progression free survival (PFS) treated with EGFR tyrosine kinase inhibitors (EGFR-TKIs). However, it is still unclear that the clinical features of patients with EGFR double mutation and the sensitivity towards EGFR-TKIs treatment...
August 20, 2018: Zhongguo Fei Ai za Zhi, Chinese Journal of Lung Cancer
Paria Nikpey, Tahereh Nazari, Shadi Khalili, Ahmad Ebrahimi
OBJECTIVE: Uterine myomas are benign uterine tumors that originate from smooth muscle cells of the myometrium. This common complication can be associated with irreversible complications, including infertility and malignancy. Better understanding of the genetic characteristics of myoma may effect on treatment. Epidermal growth factor receptor gene (EGFR) is one of the most important genes that has the major role in the pathogenesis of myoma, cell growth, differentiation, proliferation and mutagenesis...
August 16, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Zheng Xiang, Ruixuan Wan, Bingjie Zou, Xiemin Qi, Qing Huang, Shalen Kumar, Janet L Pitman, Guohua Zhou, Qinxin Song
Detection of EGFR mutations in circulating cell-free DNA (cfDNA) is beneficial to monitor the therapeutic effect, tumor progression, and drug resistance in real time. However, it requires that the mutation detection method has the ability to quantify the mutation abundance accurately. Although the next-generation sequencing (NGS) and digital PCR showed high sensitivity for quantifying mutations in cfDNA, the use of expensive equipment and the high-cost hampered their applications in the clinic. Herein, we propose a highly sensitive and specific real-time PCR by employing serial invasive reaction as a sequence identifier for quantifying EGFR mutation abundance in cfDNA (termed as qPCR-Invader)...
October 2018: Analytical and Bioanalytical Chemistry
Atieh Abedin Do, Emran Esmaeilzadeh, Mona Amin-Beidokhti, Reihaneh Pirjani, Milad Gholami, Reza Mirfakhraie
The multifactorial basis of preeclampsia (PE) implies that there are several genes and risk factors that are important in the development of the disease. Therefore, the exact etiology and pathogenesis of preeclampsia remains unclear. It is suggested that inappropriate regulation of the renin-angiotensin system (RAS) is a risk factor for hypertension during pregnancy. The angiotensin I-converting enzyme (ACE) serum level, a key component of the RAS, affects the blood pressure. It is hypothesized that the ACE gene polymorphisms contribute to preeclampsia development...
August 20, 2018: Journal of Human Hypertension
R R Jiang, Y J Wang, X D Teng, L Xiao, H Bu, F Ye
Objective: To compare the performance of Miseq and Ion Torrent PGM platforms and library construction method for next-generation sequencing (NGS) technology for formalin-fixed and paraffin-embedded (FFPE) samples. Methods: A total of 204 FFPE cancer samples including 100 non-small cell lung cancers at the First Affiliated Hospital of Zhejiang University, and 104 colorectal cancers at West China Hospital of Sichuan University were retrospectively selected from January 2013 to December 2016. By using the same samples, DNA was extracted, and the same amount of DNA was used for library construction with the same kit, and sequenced on Miseq and Ion Torrent PGM respectively, after passing the quality control...
August 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
Rasha Mohamed Saleh Shoaib, Ayman Hammad, Sohier Yahia, Afaf Elsaid, Camelia Adly Abdel-Malak
Angiotensin II, the major effective molecule of the renin-angiotensin system, plays a vital role in the development of systemic lupus erythematosus (SLE). To study angiotensin II type 1 receptor (AT1R) gene polymorphism at (A1166C) in Egyptian children with SLE and its correlation with serum ACE level and SLE manifestations. AT1R gene polymorphism (A1166C) was done in 123 children with SLE in comparison to 100 healthy controls using polymerase chain reaction-based restriction fragment length polymorphism method (PCR-RFLP) and the tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) to confirm the results of the genotyping...
August 9, 2018: Clinical Rheumatology
Mahdi Mahmoudi, Masoud Garshasbi, Amir Ashraf-Ganjouei, Ali Javinani, Mahdi Vojdanian, Masoumeh Saafi, Nooshin Ahmadzadeh, Ahmadreza Jamshidi
Background: Ankylosing Spondylitis (AS) is a chronic autoinflammatory Spondyloarthropathy (SpA) which is characterized by sacroiliitis, which progresses to the axial skeleton. It seems that non-Human Leukocyte Antigen (HLA) and also HLA-B27 are associated with the susceptibility and pathogenesis of the disease. The recent Ge-nome-Wide Association Studies (GWASs) have reported intergenic rs6759298 to be associated with AS etiology. The aim of this study was investigation of the rs6759298 polymorphism in Iranian AS patients...
July 2018: Avicenna Journal of Medical Biotechnology
Shabnam Abtahi, Fatemeh Izadi Jahromi, Mohammad Hossein Dabbaghmanesh, Mahyar Malekzadeh, Abbas Ghaderi
PURPOSE: Cytotoxic T-Lymphocyte Antigen 4 (CTLA-4 or CD152) is among the immune checkpoint molecules and its abnormal expression in cancer predisposed individuals might make the person more susceptible to tumor initiation and progression. Considering the implication of single-nucleotide polymorphisms (SNPs) in CTLA-4 gene expression and probably protein function, one can assume the involvement of these SNPs in neoplastic diseases. rs5742909 ( - 318C > T) and rs231775 ( + 49 A > G) are among the most commonly studied SNPs and have been considered as genetic factors related to thyroid diseases...
October 2018: Endocrine
Naindeep Kaur, Jagtar Singh, S Reddy
CAD (Coronary Artery Disease) morbidity is becoming an endemic worldwide. Recently, the role of pro- and anti-inflammatory cytokines in the development of atherosclerotic plaques has been explored, but the association of their genetic polymorphisms and CAD has yet not been established. The present study aimed to investigate the association of IL-8-251A/T (rs4073) and IL-10 -592C/A (rs1800872) polymorphisms and the risk of CAD in North Indian population. 1000 subjects (500 angiographically confirmed CAD patients and 500 controls) were genotyped by ARMS-PCR...
August 2, 2018: Biochemical Genetics
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