Association between interleukin 6, 10 gene polymorphisms and risk of type 2 diabetes mellitus in a Chinese population
Conclusions Our results suggest that IL6 and IL10 gene increased the risk of T2DM. Individuals having a haplotype combination of GG and AA for IL-6 and IL-10 gene polymorphisms will have higher susceptibility and be at greater risk of developing T2DM. (Source: Meta Gene)
Source: Meta Gene - September 28, 2016 Category: Genetics & Stem Cells Source Type: research

Reduced expression of miR-411 in intestinal type of gastric adenocarcinoma
Conclusion The results of the present study were consistent with previous reports indicating the downregulation of miR-411 in cancer tissues. The findings of this study may help better understand the molecular mechanism involved in gastric cancer tumorigenesis and confirm that miR-411 can be helpful in distinguishing between malignant and normal gastric cancer tissues. (Source: Meta Gene)
Source: Meta Gene - September 25, 2016 Category: Genetics & Stem Cells Source Type: research

Association of sirtuin 1 gene single nucleotide polymorphisms with type 2 diabetes mellitus in essential hypertension patients
Publication date: Available online 20 September 2016 Source:Meta Gene Author(s): Aida Abdeen Mahmoud, Hoda M. Moghazy, Mohamed Ezat Sirtuin 1 (SIR1) is a NAD+-dependent nuclear deacetylase that is involved in various metabolic pathways affecting energy homeostasis. In this investigation, we aimed to study the association of three SIRT1 gene single nucleotide polymorphisms (SNPs); rs7895833 A/G, rs7069102 C/G and rs2273773 C/T, located on the promotor, intron and exon regions respectively, with essential hypertension and type 2 diabetes mellitus (T2DM). The three SNPs were genotyped using polymerase chain reaction with con...
Source: Meta Gene - September 19, 2016 Category: Genetics & Stem Cells Source Type: research

In silico analysis of nsSNPs in human methyl CpG binding protein 2
Publication date: Available online 20 September 2016 Source:Meta Gene Author(s): Mansi Desai, Jenabhai Chauhan Methyl CpG binding protein 2 is an abundant chromatin associated protein helps in transcriptional regulation. The MECP2 gene mutations are found to be associated with many diseases including moderate to severe X-linked mental retardation, Rett syndrome, autism and neonatal encephalopathy. So many mutations till date are reported in MECP2 gene. Only dbSNP contain >3000 SNPs in human MECP2 gene which all may not be deleterious. Therefore, it is advisable to sort out the SNPs which may alter the protein funct...
Source: Meta Gene - September 19, 2016 Category: Genetics & Stem Cells Source Type: research

Relationship between adenosine deaminase polymorphism (c.22G & gt;A) and oxidative stress in sickle cell anemia
Publication date: Available online 13 September 2016 Source:Meta Gene Author(s): Danilo Grünig Humberto da Silva, Edis Belini, Lidiane de Souza Torres, Jessika Viviani Okumura, Willian Marcel Barberino, Renan Garcia de Oliveira, Vanessa Urbinatti Teixeira, Clarisse Lopes de Castro Lobo, Eduardo Alves de Almeida, Claudia Regina Bonini-Domingos The aim of this study was to identify, in people with sickle cell anemia (SCA), adenosine deaminase (ADA; c. 22G>A; rs73598374) polymorphism, and correlating it with oxidative stress markers. We evaluated 95 unrelated and diagnosed Brazilian sickle cell anemia (SCA) patie...
Source: Meta Gene - September 13, 2016 Category: Genetics & Stem Cells Source Type: research

A 10.43Mb duplication of chromosome region 5q31.2-q32 associated with a general delay in psychomotor development
We report a 4-year, 4-month-old male with a 10.43Mb duplication of chromosome region 5q31.2-q32 presenting with a general delay in psychomotor development including moderate to severe intellectual disability, language delays and gross and fine motor delays. Based on comparison with the only case of a similar duplication reported in the literature, we suspect that an extra copy of PURA in our patient may be involved in the early onset intellectual disability and seizures. Further studies and reports of cases with similar duplications could provide additional information about the influence of this gene on the phenotype of p...
Source: Meta Gene - September 6, 2016 Category: Genetics & Stem Cells Source Type: research

Gene polymorphisms of desaturase enzymes of polyunsaturated fatty acid metabolism and adiponutrin and the increased risk of nonalcoholic fatty liver disease
In conclusion, this study showed a novel association of FADS2 gene polymorphisms with NAFLD. It also verified the previously established association of rs738409 polymorphism with NAFLD. (Source: Meta Gene)
Source: Meta Gene - August 27, 2016 Category: Genetics & Stem Cells Source Type: research

Population Genetic Analysis of Five Northwest Punjabi Endogamous Groups using Microsatellite Markers
In conclusion, overall, a low level of genetic differentiation was observed in the studied population groups, especially, Jat Sikh, Mazhbi Sikh, Brahmin and Ramdasia indicating that genetic drift might have been small or negligible in shaping the genetic structure of the Northwest Punjabi populations. (Source: Meta Gene)
Source: Meta Gene - August 26, 2016 Category: Genetics & Stem Cells Source Type: research

Epidermal growth factor receptor (EGFR) in the era of precision medicine: The tale of a perfect example of targeted therapy. A review
Publication date: Available online 24 August 2016 Source:Meta Gene Author(s): Joseph Haddad, Silva Slika, Rami Mahfouz Epidermal growth factor receptor has been under the lights for the past few years as a perfect and typical example of a success story of targeted therapy. In the era of Precision Medicine, such modalities of treatment are highly implicated in the adequate choice of therapy for a wide variety of oncological diseases. This review article is about the different aspects of detection, application, and analysis of the epidermal growth factor receptor genetic mutations that constitute a key element in the initia...
Source: Meta Gene - August 23, 2016 Category: Genetics & Stem Cells Source Type: research

Detection of HER-2 gene copy number variations as a molecular marker in the peripheral blood of women with endometriosis in Iranian population: Case-control study
Publication date: Available online 24 August 2016 Source:Meta Gene Author(s): Maryam sadat Hoseini, Ahmad Ebrahimi Endometriosis is a common chronic and polygenic disease among women. Considering the importance of the relationship between endometriosis and the increasing risk of being diagnosed with various cancers among women with endometriosis, it has been demonstrated that genetic factors are clearly involved in half of these cases. The amplification/overexpression of growth factors as a dominant mechanism in developing cancer is of high importance in this progress. HER-2 is one of the main growth factors and contribut...
Source: Meta Gene - August 23, 2016 Category: Genetics & Stem Cells Source Type: research

Association between the IL2RA polymorphism and type 1 diabetes risk: Family based association study
Publication date: Available online 16 August 2016 Source:Meta Gene Author(s): Zouidi Ferjani, D. Bouzid, H. Fourati, R. Fakhfakh, T. Kammoun, M. Hachicha, C. Penha-Gonçalves, H. Masmoudi As part of an ongoing search for genes associated with type 1 diabetes (T1D), a common autoimmune disease, we tested the candidate genes; IL2RA (CD25), which encodes a subunit (IL2Rα) of the high-affinity interleukin-2 (IL2) receptor complex and IL2RB, encodes a subunit (IL-2Rβ). In order to underline the role of these genes involved in control of T-cell immune responses and autoimmunity, we investigated, using the Seque...
Source: Meta Gene - August 15, 2016 Category: Genetics & Stem Cells Source Type: research

Familial GPC3 and GPC4-TFDP3 deletions at Xq26 associated with Simpson-Golabi-Behmel syndrome
We report a familial case of Simpson-Golabi-Behmel syndrome type 1 (SGBS1) with prenatal ultrasound findings of bilateral ventriculomegaly and polyhydramnios and postnatal findings of macroglossia, macrosomia and other dysmorphic features. Oligonucleotide array comparative genomic hybridization (aCGH) analysis and further polymerase chain reaction (PCR) sequencing identified a 167.071kb hemizygous deletion including the entire TFDP3 gene and exons 3–9 of the GPC4 (Glypican 4) gene, and a 86.943kb deletion including exon 3 of the GPC3 (Glypican 3) gene. Joined sequences at the breakpoints indicate that the deletion of...
Source: Meta Gene - August 14, 2016 Category: Genetics & Stem Cells Source Type: research

Human papillomavirus 16 as a risk factor for oral leukoplakia: A meta-analysis
Conclusions This meta-analysis suggests that HPV16 is a significant independent risk factor for oral leukoplakia, which might be valuable information for early prevention and treatment of these potential precancerous oral lesions. (Source: Meta Gene)
Source: Meta Gene - August 13, 2016 Category: Genetics & Stem Cells Source Type: research

Complete mitochondrial genome of Eurema blanda and phylogenetic relationship with its congener E. hecabe and other pierid butterflies
We report here its complete mitochondrial genome (mitogenome) determined by next-generation sequencing and its phylogenetic relationship with its congener E. hecabe and other pierid butterflies. The whole mitogenome possessed 37 genes and a control region. It had a total length of 15,123 bp. The start codons ATA and ATC present in E. hecabe were not represented in E. blanda. In both species, the cloverleaf structure of trnS1 lacked the DHU-arm, and trnF lacked the TψC-loop. Molecular phylogeny based on 37 mt-genes reveals close affinity between E. blanda and E. hecabe although not as a sister group. The three subfamili...
Source: Meta Gene - August 12, 2016 Category: Genetics & Stem Cells Source Type: research

Whole Exome Sequencing reveals a mutation in an osteogenesis imperfecta patient
In this study, we performed WES for a patient prediagnosed as Osteogenesis Imperfecta. He had also dentinogenesis imperfecta. The WES results confirmed with Sanger sequencing revealed as a missense mutation at codon 560 of COL1A1 gene: c.1678G>A p.(Gly560Cys). The mutation was in exon 25 and according to the dbSNP database this mutation corresponded to rs67507747. As a conclusion, it is very important to perform WES after an algorithm. This algorithm has to include, a suspect of a mendelian disorder, multiple genetic conditions in the differential diagnosis, and even if it is available the conventional diagnosis is ...
Source: Meta Gene - August 12, 2016 Category: Genetics & Stem Cells Source Type: research

Prevalence of PPAR- γ2 (rs1801282), RETN (rs3745367) and ADIPOQ (rs2241766) SNP markers in the Bangladeshi Type 2 Diabetic Population
Publication date: Available online 10 August 2016 Source:Meta Gene Author(s): Razwa Saleh, Zahidul Islam Zahid, Mohammad Atikur Rahman, Preeti Jain, Ashraful Alam, Hasan Mahmud Reza, Masashi Kawaichi The genetic variants within peroxisome- proliferator activated receptor-gamma 2 (rs1801282), resistin (rs3745367) and adiponectin (rs2241766) were examined in this pilot study to find a possible link between the single nucleotide polymorphisms (SNPs) and type 2 diabetes mellitus (T2D) in the Bangladeshi population. The correlation between frequency of SNPs in the aforementioned genes with biochemical and demographic traits re...
Source: Meta Gene - August 9, 2016 Category: Genetics & Stem Cells Source Type: research

Interleukin 10 ( −1082 G/A) and (−819 C/T) gene polymorphisms in Egyptian women with polycystic ovary syndrome (PCOS)
Publication date: Available online 3 August 2016 Source:Meta Gene Author(s): 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-...
Source: Meta Gene - August 3, 2016 Category: Genetics & Stem Cells Source Type: research

Investigating regulatory signatures of human autophagy related gene 5 (ATG5) through functional in silico analysis
In conclusion, the information obtained in this study could be helpful for better understanding of regulatory roles of ATG5 and provides a base for its implication in population-based studies. Graphical abstract (Source: Meta Gene)
Source: Meta Gene - July 26, 2016 Category: Genetics & Stem Cells Source Type: research

Changing correlations among ADMA, NO and hs-CRP in normoalbuminuric and microalbuminuric patients with type 2 diabetes
Conclusion Hs-CRP was higher in microalbuminuric patients with type 2 diabetes compare to normoalbuminuric group. Also we found changing association among ADMA, NO and hs-CRP from normoalbuminuric to albuminuric state which this finding may be linked to the role of basic inflammation in confounding some interactions and creating some new ones. (Source: Meta Gene)
Source: Meta Gene - July 25, 2016 Category: Genetics & Stem Cells Source Type: research

Sequence analysis of Meq oncogene among Indian isolates of Marek's disease herpesvirus
Publication date: Available online 26 July 2016 Source:Meta Gene Author(s): Mridula, 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 ...
Source: Meta Gene - July 25, 2016 Category: Genetics & Stem Cells Source Type: research

Vascular endothelial growth factor gene polymorphisms and association with age related macular degeneration in Indian patients
Conclusion The present study suggests significant genetic associations for VEGF −1154G>A, +460C>T, and +405G>C polymorphisms with AMD. Early detection of individuals with risk to these SNPs could lead to strategies for prevention, early diagnosis, and management of AMD. (Source: Meta Gene)
Source: Meta Gene - July 23, 2016 Category: Genetics & Stem Cells Source Type: research

An enhanced version of Cochran-Armitage trend test for genome-wide association studies
Publication date: Available online 22 July 2016 Source:Meta Gene Author(s): 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 ...
Source: Meta Gene - July 23, 2016 Category: Genetics & Stem Cells Source Type: research

Association of adiponectin receptor 1 gene −106 C & gt;T variant with susceptibility to colorectal cancer
Conclusions Our findings suggest for the first time that the −106 C>T (rs2275738) variant of ADIPOR1 gene may be a genetic contributor to CRC and obesity risk in the cases with CRC. However, further studies with bigger sample size are needed to validate these findings. (Source: Meta Gene)
Source: Meta Gene - July 23, 2016 Category: Genetics & Stem Cells Source Type: research

Tumor necrosis factor-alpha ( −308G/A, +488G/A, −857C/T and -1031T/C) gene polymorphisms and risk of ischemic stroke in north Indian population: A hospital based case–control study
Conclusions Two SNPs (+488G/A and -857C/T) of TNF-α gene and their haplotypes are significantly associated with the risk of IS in the population enrolled from North India. Our findings indicate that polymorphisms and haplotypes of TNF-α gene may be used as a genetic marker for identifying individuals at increased risk for developing IS. (Source: Meta Gene)
Source: Meta Gene - July 20, 2016 Category: Genetics & Stem Cells Source Type: research

FokI polymorphism in vitamin D receptor gene: Differential expression of TNF α in peripheral mononuclear cells of type 2 diabetic subjects
Conclusion Our data suggest that VDR FokI polymorphism is associated with T2D, and the genotypes Ff and ff of this variant show a reduced response or resistance to the anti-inflammatory action of VitD, which could indicate a functional role of FokI polymorphism of VDR. (Source: Meta Gene)
Source: Meta Gene - July 20, 2016 Category: Genetics & Stem Cells Source Type: research

Liver X Receptor- α polymorphisms (rs11039155 and rs2279238) are associated with susceptibility to vitiligo
In this study, for the first time, we have investigated the association of LXR-α gene polymorphisms and risk of vitiligo. Sixty six vitiligo patients and 75 matched healthy control subjects who did not have any history of vitiligo or any other autoimmune disorder were recruited. The DNA isolated from patients and healthy controls was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for both rs11039155 (−6 G>A) and rs2279238 (+1257 C>T) variants. Our data suggest significant association between the LXR-α gene polymorphisms and vitiligo susceptibility ...
Source: Meta Gene - July 20, 2016 Category: Genetics & Stem Cells Source Type: research

Genetic association between inflammatory genes (IL-1 α, CD14, LGALS2, PSMA6) and risk of ischemic stroke: A meta-analysis
Conclusion Our meta-analysis shows that IL-1α (-C889T and -C511T), CD14 (-C159T), LGALS2 (-C3279T) and gene polymorphisms are not significantly associated with the risk of IS while PSMA6 (-C8G) gene polymorphism may play a protective role with the susceptibility of IS. Further prospective large epidemiological studies are needed to confirm these findings in different populations. (Source: Meta Gene)
Source: Meta Gene - July 20, 2016 Category: Genetics & Stem Cells Source Type: research

Association of adiponectin receptor 1 gene −106C & gt;T variant with susceptibility to colorectal cancer
Conclusions Our findings suggest for the first time that the −106C>T (rs2275738) variant of ADIPOR1 gene may be a genetic contributor to CRC and obesity risk in the cases with CRC. However, further studies with bigger sample size are needed to validate these findings. (Source: Meta Gene)
Source: Meta Gene - July 20, 2016 Category: Genetics & Stem Cells Source Type: research

TNF- α −308 G & gt;A and IFN- γ +874 A & gt;T gene polymorphisms in Egyptian patients with lupus erythematosus
Publication date: September 2016 Source:Meta Gene, Volume 9 Author(s): Wfaa Al-Kholy, Afaf Elsaid, Aml Sleem, Hend Fathy, Rami Elshazli, Ahmad Settin (Source: Meta Gene)
Source: Meta Gene - July 20, 2016 Category: Genetics & Stem Cells Source Type: research

Tumor necrosis factor- α (TNF-α)-308G/A promoter polymorphism in colorectal cancer in ethnic Kashmiri population — A case control study in a detailed perspective
Conclusions This study indicates that there is no significant association between the TNF-α-308G/A promoter SNP and the risk of developing CRC in ethnic Kashmiri population. However, in order to substantiate our findings, this study needs to be replicated with bigger sample size and should involve other ethnically defined populations with high CRC risk. (Source: Meta Gene)
Source: Meta Gene - July 20, 2016 Category: Genetics & Stem Cells Source Type: research

Identification of novel splice site mutation IVS9+1(G & gt;A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous for mutation N370S
Publication date: September 2016 Source:Meta Gene, Volume 9 Author(s): Kourtnee Hoitsema, Dominick Amato, Aneal Khan, Sandra Sirrs, Francis Y.M. Choy Gaucher disease is an autosomal recessive lysosomal storage disorder resulting from deficient glucocerebrosidase activity. More than 350 mutations that cause Gaucher disease have been described to date. Novel mutations can potentially provide insight into the glucocerebrosidase structure–function relationship and biochemical basis of the disease. Here, we report the identification of two novel mutations in two unrelated patients with type I (non-neuronopathic) Ga...
Source: Meta Gene - July 20, 2016 Category: Genetics & Stem Cells Source Type: research

Association between GNB3 c.825C & gt;T polymorphism and the risk of overweight and obesity: A meta-analysis
Conclusion This meta-analysis suggests that the presence of TT homozygote might be one of the genetic factors susceptible to overweight/obesity and that males or aged under 30years increase the genetic susceptibility. (Source: Meta Gene)
Source: Meta Gene - July 20, 2016 Category: Genetics & Stem Cells Source Type: research

Two gene polymorphisms (rs4977756 and rs11515) in CDKN2A/B and glioma risk in south Indian population
Publication date: Available online 17 July 2016 Source:Meta Gene Author(s): 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 ...
Source: Meta Gene - July 17, 2016 Category: Genetics & Stem Cells Source Type: research

Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome
This study was directed 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. Our data indicated that WS patients of the first family harbored two deletion mutations (V415del and F247fs) located in exon 8 and exon 7 respectively, with a compound heterozygous pattern of inheritance; while in the second family, we identified a novel nonsense mutation (W185X) located in exon 5 in the N-terminal cytoplasmic domain with a homozygous pattern of inheritance. This mutation can be considered as loss o...
Source: Meta Gene - July 16, 2016 Category: Genetics & Stem Cells Source Type: research

Association of adiponectin receptor 1 gene −106C>T variant with susceptibility to colorectal cancer
Conclusions Our findings suggest for the first time that the −106C>T (rs2275738) variant of ADIPOR1 gene may be a genetic contributor to CRC and obesity risk in the cases with CRC. However, further studies with bigger sample size are needed to validate these findings. (Source: Meta Gene)
Source: Meta Gene - July 14, 2016 Category: Genetics & Stem Cells Source Type: research

Association of TFAP2A gene polymorphism with susceptibility to non-syndromic cleft lip with or without palate risk in south Indian population
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. The method of multifactor dimensionality reduction (MDR) was used to analyze gene-gene interactions. TFAP2A polymorphisms are not found to be associated with non-syndromic cleft lip with or without cleft palate (NSCL/P) at either the genotype or allele levels. No linkage disequilibrium (LD) was found between TFAP2A variants. MDR analysis did not show a significant effect of t...
Source: Meta Gene - July 9, 2016 Category: Genetics & Stem Cells Source Type: research

Impact of CYP2C9, VKORC1 and CYP4F2 genetic polymorphisms on maintenance warfarin dosage in Han-Chinese patients: A systematic review and meta-analysis
Conclusions This meta-analysis is the first to report the relationship between genotypes and MDWD among Han-Chinese patients. The results showed that SNPs of CYP2C9, CYP4F2, VKORC1 1173 and VKORC1-1639 significantly influenced the MDWD in Han-Chinese patients. (Source: Meta Gene)
Source: Meta Gene - July 8, 2016 Category: Genetics & Stem Cells Source Type: research

Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization
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. Five pre...
Source: Meta Gene - July 8, 2016 Category: Genetics & Stem Cells Source Type: research

Identification of TRPCs genetic variants that modify risk for lung cancer based on the pathway and two-stage study
Conclusion These findings suggested that TRPC4 rs9547991 and rs978156, and TRPC7 rs11748198 were candidate susceptibility markers for lung cancer in Chinese population. Our study provides the epidemiological evidence supporting a connection between TRPC members and lung cancer risks. (Source: Meta Gene)
Source: Meta Gene - July 8, 2016 Category: Genetics & Stem Cells Source Type: research

Vitellogenin knockdown strongly affects cotton boll weevil egg viability but not the number of eggs laid by females
Publication date: September 2016 Source:Meta Gene, Volume 9 Author(s): 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. H...
Source: Meta Gene - July 8, 2016 Category: Genetics & Stem Cells Source Type: research

Interleukin-18 gene promoter 607A polymorphism, but not 137C polymorphism, is a protective factor for ischemic stroke in the Chinese population: A meta-analysis
Publication date: September 2016 Source:Meta Gene, Volume 9 Author(s): 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...
Source: Meta Gene - July 8, 2016 Category: Genetics & Stem Cells Source Type: research

Rapid and ultra-rapid metabolizers with CYP2C19*17 polymorphism do not respond to standard therapy with proton pump inhibitors
Conclusion Our study has demonstrated that 19.7% of our subjects are carriers of the CYP2C19*17 allele who did not respond to the standard dose of proton pump inhibitors. Genetic screening to identify subjects with variant alleles would thus be useful for personalization of therapy with proton pump inhibitors. (Source: Meta Gene)
Source: Meta Gene - June 17, 2016 Category: Genetics & Stem Cells Source Type: research

Polymorphisms of apolipoprotein E and aneurysmal subarachnoid haemorrhage: A meta-analysis
Publication date: Available online 17 June 2016 Source:Meta Gene Author(s): 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 u...
Source: Meta Gene - June 16, 2016 Category: Genetics & Stem Cells Source Type: research

TNF-α −308 G>A and IFN-γ +874 A>T gene polymorphisms in Egyptian patients with lupus erythematosus
Publication date: September 2016 Source:Meta Gene, Volume 9 Author(s): Wfaa Al-Kholy, Afaf Elsaid, Aml Sleem, Hend Fathy, Rami Elshazli, Ahmad Settin (Source: Meta Gene)
Source: Meta Gene - June 10, 2016 Category: Genetics & Stem Cells Source Type: research

TNF-α−308G>A and IFN-γ+874A>T gene polymorphisms in Egyptian patients with lupus erythematosus
Publication date: Available online 4 June 2016 Source:Meta Gene Author(s): Wfaa Al-Kholy, Afaf Elsaid, Aml Sleem, Hend Fathy, Rami Elshazli, Ahmad Settin (Source: Meta Gene)
Source: Meta Gene - June 3, 2016 Category: Genetics & Stem Cells Source Type: research

Tumor necrosis factor-α (TNF-α)-308G/A Promoter Polymorphism in Colorectal Cancer in ethnic Kashmiri population - a case control study in a detailed perspective
Conclusions This study indicates that there is no significant association between the TNF-α-308G/A promoter SNP and the risk of developing CRC in ethnic Kashmiri population. However, in order to substantiate our findings, this study needs to be replicated with bigger sample size and should involve other ethnically defined populations with high CRC risk. (Source: Meta Gene)
Source: Meta Gene - June 2, 2016 Category: Genetics & Stem Cells Source Type: research

In silico analysis of deleterious single nucleotide polymorphisms in human BUB1 mitotic checkpoint serine/threonine kinase B gene
Publication date: Available online 28 May 2016 Source:Meta Gene Author(s): 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 ...
Source: Meta Gene - May 28, 2016 Category: Genetics & Stem Cells Source Type: research

Effect of RAS status on anti-EGFR monoclonal antibodies+5-FU infusion-based chemotherapy in first-line treatment of metastatic colorectal cancer: A meta-analysis
Conclusions Adding anti-EGFR moAb as first-line treatment in RAS-wt mCRC prolonged OS. Whether BRAF mutation is a predictive marker to anti-EGFR moAb is not clear. (Source: Meta Gene)
Source: Meta Gene - May 25, 2016 Category: Genetics & Stem Cells Source Type: research

A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract
In this study, we describe a child in whom a novel de novo likely pathogenic variant in the motor domain of DYCN1H1 was identified through whole exome sequencing. The affected child presented with severe neurological symptoms and more extensive cortical malformations compared to previously reported cases with mutations in this gene, including diffuse pachygyria-lissencephaly and bilateral symmetric subcortical gray matter heterotopia. A more distinct aspect of the phenotype in this child is the presence of cataract in infancy. So far, only acquired bilateral cataract in adulthood has been described in this disorder in a pa...
Source: Meta Gene - May 17, 2016 Category: Genetics & Stem Cells Source Type: research

ERBB3-rs2292239 as primary type 1 diabetes association locus among non-HLA genes in Chinese
Publication date: Available online 12 May 2016 Source:Meta Gene Author(s): Chengjun Sun, Haiyan Wei, Xiuli Chen, Zhuhui Zhao, Hongwei Du, Wenhui Song, Yu Yang, Miaoying Zhang, Wei Lu, Zhou Pei, Li Xi, Jian Yan, Dijing Zhi, Ruoqian Cheng, Feihong Luo Type 1 diabetes (T1D) is an autoimmune disease that has strong contribution of genetic factors to its etiology. We aimed to assess the genetic association between non-HLA genes and T1D in a Chinese case-control cohort recruited from multiple centers consisting of 364 patients with T1D and 719 unrelated healthy children. We genotyped 55 single nucleotide polymor...
Source: Meta Gene - May 12, 2016 Category: Genetics & Stem Cells Source Type: research