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Meta Gene

Majnu John, Todd Lencz, Anil K Malhotra, Christoph U Correll, Jian-Ping Zhang
Meta-analysis of genetic association studies is being increasingly used to assess phenotypic differences between genotype groups. When the underlying genetic model is assumed to be dominant or recessive, assessing the phenotype differences based on summary statistics, reported for individual studies in a meta-analysis, is a valid strategy. However, when the genetic model is additive, a similar strategy based on summary statistics will lead to biased results. This fact about the additive model is one of the things that we establish in this paper, using simulations...
June 2018: Meta Gene
Chihiro Hiramatsu, Annika Paukner, Hika Kuroshima, Kazuo Fujita, Stephen J Suomi, Miho Inoue-Murayama
The androgen receptor mediates various physiological and developmental functions and is highly conserved in mammals. Although great intraspecific length polymorphisms in poly glutamine (poly-Q) and poly glycine (poly-G) regions of the androgen receptor in humans, apes and several Old World monkeys have been reported, little is known about the characteristics of these regions in New World monkeys. In this study, we surveyed 17 species of New World monkeys and found length polymorphisms in these regions in three species (common squirrel monkeys, tufted capuchin monkeys and owl monkeys)...
December 2017: Meta Gene
Soner Dogan, Amitabha Ray, Margot P Cleary
Calorie restriction (CR) is an effective intervention to prevent chronic diseases including cancer. Although many factors, i.e., sex hormones, IGF-I and mTOR have been studied in response to CR, the molecular mechanisms of CR remain to be identified. Our objective was to determine the short and long-term effects of different CR protocols on pro-inflammatory cytokines. Our hypothesis was that Intermittent CR (ICR) would result in greater inhibition of pro-inflammatory serum cytokines compared to Chronic CR (CCR) as we previously found ICR to be more protective in the prevention of mammary tumor development...
June 2017: Meta Gene
Roba M Talaat, Yasmin A Mohamed, Ehab H Mohamad, Marwa Elsharkawy, Adel A Guirgis
Cytokines play critical roles in the pathogenesis of Polycystic Ovarian Syndrome (PCOS). This work was designed to study the implication of IL10 gene polymorphisms (- 1082 G/A and - 819 C/T) on the susceptibility of Egyptian women to have PCOS. Rotterdam consensus criteria were used to diagnose PCOS patients. Genotyping was performed by single-stranded polymorphism-polymerase chain reaction (SSP-PCR) in 61 PCOS patients and 80 healthy controls, and IL-10 serum levels were measured using Enzyme linked immunosorbent assay (ELISA)...
September 2016: Meta Gene
Divya Gupta, Vani Gupta, Vinita Singh, Swayam Prakash, Suraksha Agrawal, Shobhit Chawla, Shubha R Phadke
BACKGROUND: Age-related macular degeneration (AMD) is an important cause of visual impairment in elderly people. AMD is a multifactorial disease in which both environmental and genetic factors have been implicated. Various single nucleotide polymorphisms (SNPs) have been found to be associated with AMD. AIM: This study was aimed to investigate the association of polymorphisms in VEGF genes with age related macular degeneration (AMD) in Indian patients. METHOD: Genotyping for the VEGF - 1154 (G > A), - 2578 (C > A), + 405 (G > C) and - 460 (C > T) SNPs was performed in 100 AMD patients and 100 controls by polymerase chain reaction (PCR), restriction fragment length polymorphism (PCR-RFLP) and sequencing method...
September 2016: Meta Gene
Avni Vij, Rohit Randhawa, Jyoti Parkash, Harish Changotra
Autophagy is an essential, homeostatic process which removes damaged cellular proteins and organelles for cellular renewal. ATG5, a part of E3 ubiquitin ligase-like complex (Atg12-Atg5/Atg16L1), is a key regulator involved in autophagosome formation - a crucial phase of autophagy. In this study, we used different in silico methods for comprehensive analysis of ATG5 to investigate its less explored regulatory activity. We have predicted various physico-chemical parameters and two possible transmembrane models that helped in exposing its functional regions...
September 2016: Meta Gene
Mridula Gupta, Dipak Deka, Ramneek
Marek's disease (MD), caused by Marek's disease virus (MDV), is a highly contagious neoplastic disease of chicken that can be prevented by vaccination. However, in recent years many cases of vaccine failure have been reported worldwide as chickens develop symptoms of MD in spite of proper vaccination. Distinct polymorphism and point mutations in Meq gene of MDV have been reported to be associated with virulence and oncogenicity. The present study was carried out with the objective to isolate and characterize field isolates of MDV on the basis of Meq gene...
September 2016: Meta Gene
Mansi Ghodsi, Saeid Amiri, Hossein Hassani, Zara Ghodsi
Genome-wide association studies the evaluation of association between candidate gene and disease status is widely carried out using Cochran-Armitage trend test. However, only a small number of research papers have evaluated the distribution of p-values for the Cochran-Armitage trend test. In this paper, an enhanced version of Cochran-Armitage trend test based on bootstrap approach is introduced. The achieved results confirm that the distribution of p-values of the proposed approach fits better to the uniform distribution, and it is thus concluded that the proposed method, which needs less assumptions in comparison with the conventional method, can be successfully used to test the genetic association...
September 2016: Meta Gene
Khaldon Bodoor, Osama Batiha, Ayman Abu-Awad, Khaldon Al-Sarihin, Haya Ziad, Yousef Jarun, Aya Abu-Sheikha, Sara Abu Jalboush, Khoulod S Alibrahim
Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disorder characterized by the presentation of early onset type I diabetes mellitus and optic atrophy with later onset diabetes insipidus and deafness. WFS1 gene was identified on chromosome 4p16.1 as the gene responsible for WS disease given that most of the WS patients were found to carry mutations in this gene. This study was carried out to investigate the molecular spectrum of WFS1 gene in Jordanian families. Molecular and clinical characterization was performed on five WS patients from two unrelated Jordanian families...
September 2016: Meta Gene
M K Sibin, I Bhat Dhananjaya, K V L Narasingarao, S M Harshitha, M Jeru-Manoj, G K Chetan
Gliomas are most common neoplasms in the CNS with unknown aetiology. Gene polymorphisms have been studied in glioma to check its risk in different population. CDKN2A, commonly altered tumor suppressor gene polymorphisms were recently shown to be associated with glioma in Caucasians. Present study evaluated potential association between two SNPs in CDKN2A/B gene with glioma risk in South Indian population with a total of 128 cases and 140 control subjects. Allelic discrimination assay was used for the genotyping and the association of each SNP with glioma risk were calculated using odds ratio and 95% CI...
September 2016: Meta Gene
Touraj Mahmoudi, Khatoon Karimi, Negar Karimi, Hamid Farahani, Hossein Nobakht, Reza Dabiri, Mohsen Vahedi, Mohammad Reza Zali
BACKGROUND: Colorectal cancer (CRC) is the fourth leading cause of cancer-related death around the world and accumulated evidence indicates the association between CRC and obesity and insulin resistance. OBJECTIVES: Regarding the role of adiponectin in obesity and insulin resistance, we explored whether genetic variants in adiponectin (ADIPOQ) and adiponectin receptor 1 (ADIPOR1) are associated with CRC risk. MATERIALS AND METHODS: ADIPOQ (rs2241766) and ADIPOR1 (rs2275738) gene variants were genotyped in 261 cases with CRC and 339 controls using PCR-RFLP method...
September 2016: Meta Gene
Jinhua Zhang, Zhijie Chen, Chunmei Chen
INTRODUCTION: Warfarin is the most commonly used antithrombotic drug. Single nucleotide polymorphisms (SNPs) of CYP2C9, CYP4F2, VKORC1 1173 and VKORC1-1639 influence warfarin maintenance dosage. We aimed to determine the impact of SNPs of these genes on mean daily warfarin dosage (MDWD) in Han-Chinese patients. METHODS: Strict literature inclusion criteria were established, and literature searching was performed on PubMed, Embase and Cochrane Library for English articles and CNKI, CBM and Wanfang database for Chinese articles before September 2, 2014...
September 2016: Meta Gene
Zili Zhang, Jian Wang, Jianxing He, Xiansheng Zeng, Xindong Chen, Mingmei Xiong, Qipeng Zhou, Meihua Guo, Defu Li, Wenju Lu
OBJECTIVE: Store operated calcium channels (SOCCs) and Receptor-operated calcium channels (ROCCs) are important pathways participating in regulation of intracellular Ca(2 +) concentration in various cell types. The purpose of our study is to determine whether genetic variations in key components of SOCCs and ROCCs are associated with lung cancer risk. METHODS: We identified 236 tagSNPs in 9 key genes related to SOCCs and ROCCs (TRPC1, TRPC3, TRPC4, TRPC6, TRPC7, ORAI1, ORAI2, STIM1, and STIM2) and evaluated their association with lung cancer risk in a two-stage case-control study with a total of 2433 lung cancer cases and 2433 cancer-free controls using Illumina high throughput genotyping platform...
September 2016: Meta Gene
Natália D Linhares, Eugênia R Valadares, Silvia S da Costa, Rodrigo R Arantes, Luiz Roberto de Oliveira, Carla Rosenberg, Angela M Vianna-Morgante, Marta Svartman
We report on a 16-year-old boy with a maternally inherited ~ 18.3 Mb Xq13.2-q21.31 duplication delimited by aCGH. As previously described in patients with similar duplications, his clinical features included intellectual disability, developmental delay, speech delay, generalized hypotonia, infantile feeding difficulties, self-injurious behavior, short stature and endocrine problems. As additional findings, he presented recurrent seizures and pubertal gynecomastia. His mother was phenotypically normal and had completely skewed inactivation of the duplicated X chromosome, as most female carriers of such duplications...
September 2016: Meta Gene
Venkatesh Babu Gurramkonda, Altaf Hussain Syed, Jyotsna Murthy, Bhaskar V K S Lakkakula
The aetiology of non-syndromic cleft lip with or without cleft palate (NSCL/P) is complex involving multiple interacting genes and environmental factors. The primary objective of the present study was to investigate the role of TFAP2A gene single nucleotide polymorphisms (SNPs) in the pathogenesis of NSCL/P. In this study, 173 unrelated NSCL/P patients and 176 controls without clefts were genotyped with TFAP2A rs1675414 (Exon 1), rs3798691 (Intron 1), and rs303050 (Intron 4) variants by allele-specific amplification using the KASPar SNP genotyping system...
September 2016: Meta Gene
Roberta R Coelho, José Dijair Antonino de Souza Júnior, Alexandre A P Firmino, Leonardo L P de Macedo, Fernando C A Fonseca, Walter R Terra, Gilbert Engler, Janice de Almeida Engler, Maria Cristina M da Silva, Maria Fatima Grossi-de-Sa
Vitellogenin (Vg), a yolk protein precursor, is the primary egg nutrient source involved in insect reproduction and embryo development. The Cotton Boll weevil (CBW) Anthonomus grandis Boheman, the most important cotton pest in Americas, accumulates large amounts of Vg during reproduction. However, the precise role of this protein during embryo development in this insect remains unknown. Herein, we investigated the effects of vitellogenin (AgraVg) knockdown on the egg-laying and egg viability in A. grandis females, and also characterized morphologically the unviable eggs...
September 2016: Meta Gene
Ming-Jie Zhang, Yi Zhou, Xu Wang, Xue Chen, Yan Pi, Lu Guo, Chang-Yue Gao, Jing-Cheng Li, Li-Li Zhang
Some epidemiological studies have evaluated the association between interleukin (IL)-18 promoter polymorphisms and the risk of ischemic stroke (IS), but the results were inconsistent. The present meta-analysis was therefore performed to investigate the relationship between IL-18 promoter 137G/C and 607C/A polymorphisms and the risk of IS in the Chinese population. Related studies from PubMed, Embase, Web of Science, CBMdisc and CNKI databases up to November 1, 2014 were systematically searched, also the reference lists of identified articles were manually searched...
September 2016: Meta Gene
Neha Deshpande, Sharanya V, Ravi Kanth V V, Murthy H V V, Sasikala M, Rupa Banerjee, Manu Tandan, Nageshwar Reddy D
INTRODUCTION AND OBJECTIVE: Polymorphisms in genes encoding drug metabolizing enzymes may lead to varied enzyme activity and inter-individual variability in drug efficacy and/or toxicity. Since CYP2C19 and CYP3A4 genes code for enzymes involved in metabolizing wide variety of drugs including proton pump inhibitors, we sought to identify polymorphisms in these genes in order to study their impact on drug metabolism in subjects. METHODS: DNA was isolated from healthy individuals including tribals and genotyped for 11 single nucleotide polymorphisms in CYP2C19 and 6 polymorphisms in CYP3A4...
September 2016: Meta Gene
S Arati, M K Sibin, Dhananjaya I Bhat, K V L Narasingarao, G K Chetan
Subarachnoid haemorrhage (SAH) is characterised by bleeding in the subarachnoid space in the brain. There are various polymorphisms in genes which are associated with this disease. We performed a systematic meta- analysis to investigate the relationship of APOE polymorphism on aSAH. A comprehensive literature search was done in the Pubmed database, Science Direct, Cochrane library and Google Scholar. The OR and 95% CI were evaluated for the gene and aSAH association using fixed and random effect models. Publication bias was assessed using Begg's funnel plot and Egger's regression test...
September 2016: Meta Gene
Fatemeh Akhoundi, Nikpour Parvaneh, Emadi-Baygi Modjtaba
One of the major challenges in the analysis of human genetic variation is to distinguish mutations that are functionally neutral from those that contribute to disease. BubR1 is a key protein mediating spindle-checkpoint activation that plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Owing to the importance of BUB1B gene in mitotic checkpoint a functional analysis using different in silico approaches was undertaken to explore the possible associations between genetic mutations and phenotypic variation...
September 2016: Meta Gene
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