Genomes and Genes
genetic association studies
Summary: The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.
Publications112 found, 100 shown here
- Li H, Reksten T, Ice J, Kelly J, Adrianto I, Rasmussen A, et al. Identification of a SjÃ¶gren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons. PLoS Genet. 2017;13:e1006820 pubmed publisher..Our results establish OAS1 as a risk locus for SS and support a potential role for defective viral clearance due to altered IFN response as a genetic pathophysiological basis of this complex autoimmune disease. ..
- Liu B, Wei J, Li M, Jiang J, Zhang H, Yang L, et al. Association of common genetic variants in VEGFA with biliary atresia susceptibility in Northwestern Han Chinese. Gene. 2017;628:87-92 pubmed publisher..Our results indicate additional evidence supporting that there is an important role of the VEGFA gene in the increased susceptibility of BA. ..
- Boronat S, Thiele E, Caruso P. Cerebellar lesions are associated with TSC2 mutations in tuberous sclerosis complex: a retrospective record review study. Dev Med Child Neurol. 2017;59:1071-1076 pubmed publisher..New studies are needed to assess the clinical significance of these lesions. ..
- Huang C, Chang K, Hung C, Chiu K, Lu S, Wang J, et al. Impact of PNPLA3 and IFNL3 polymorphisms on hepatic steatosis in Asian patients with chronic hepatitis C. PLoS ONE. 2017;12:e0182204 pubmed publisher..93, 95% CI: 1.35-2.77, P = 0.003). The PNPLA3 rs738409 GG genotype is positively associated with HS, while the IFNL3 rs 12979860 CC genotype may be negatively associated with HS, in Asian CHC patients. ..
- Okada S, Suzuki Y, Arimura T, Kimura A, Narumi H, Hasegawa S. A novel de novo mutation of ?-cardiac myosin heavy chain gene found in a twelve-year-old boy with hypertrophic cardiomyopathy. J Genet. 2014;93:557-60 pubmed
- Zhang L, Kim S, Jia G, Buhmeida A, Dallol A, Wright W, et al. Exome Sequencing of Normal and Isogenic Transformed Human Colonic Epithelial Cells (HCECs) Reveals Novel Genes Potentially Involved in the Early Stages of Colorectal Tumorigenesis. BMC Genomics. 2015;16 Suppl 1:S8 pubmed publisher..Exome sequencing reveals a collection of novel genes that may play important roles in CRC tumorigenesis. ..
- Ramakrishnan V, Akram Husain R, Ahmed S. Genetic predisposition of IL-10 promoter polymorphisms with risk of multiple sclerosis: A meta-analysis. J Neuroimmunol. 2017;306:11-18 pubmed publisher..Overall, our results demonstrated that rs1800896, rs1800871 and rs1800872 polymorphisms may not be the risk factor for the development of MS in both the populations. ..
- Eusebi P, González Prendes R, Quintanilla R, Tibau J, Cardoso T, Clop A, et al. A genome-wide association analysis for carcass traits in a commercial Duroc pig population. Anim Genet. 2017;48:466-469 pubmed publisher..Sequencing of these candidate genes may help to uncover the causal mutations responsible for the associations found in the present study. ..
- Wang X, Li W, Zhang Y, Feng Y, Zhao X, He Y, et al. Chronic obstructive pulmonary disease candidate gene prioritization based on metabolic networks and functional information. PLoS ONE. 2017;12:e0184299 pubmed publisher..Top 100 genes might be potential markers for diagnostic and effective therapies. ..
- Rybakowski J, Dmitrzak Weglar M, Kliwicki S, Hauser J. Polymorphism of circadian clock genes and prophylactic lithium response. Bipolar Disord. 2014;16:151-8 pubmed..Of special interest may be polymorphisms of these genes involved both in the predisposition to bipolar mood disorder and the lithium response. ..
- Snit M, Nabrdalik K, Długaszek M, Gumprecht J, Trautsolt W, Gorczynska Kosiorz S, et al. Association of rs 3807337 polymorphism of CALD1 gene with diabetic nephropathy occurrence in type 1 diabetes - preliminary results of a family-based study. Endokrynol Pol. 2017;68:13-17 pubmed publisher..Endokrynol Pol 2017; 68 (1): 13-17). ..
- Walker L, Pearson J, Wiggins G, Giles G, Hopper J, Southey M. Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry. Breast Cancer Res. 2017;19:30 pubmed publisher..02 and P = 0.03, respectively). These results suggest rare CNVs might have a role in breast cancer susceptibility, at least for disease at a young age. ..
- Amano N, Narumi S, Hayashi M, Takagi M, Imai K, Nakamura T, et al. Genetic defects in pediatric-onset adrenal insufficiency in Japan. Eur J Endocrinol. 2017;177:187-194 pubmed publisher..Molecular testing is a rational approach to diagnosis in biochemically uncharacterized PAI patients. ..
- Habibi M, Mirfakhraie R, Khani M, Rakhshan A, Azargashb E, Pouresmaeili F. Genetic variations in UGT2B28, UGT2B17, UGT2B15 genes and the risk of prostate cancer: A case-control study. Gene. 2017;634:47-52 pubmed publisher..To our knowledge, this is the first report that implicates the role of CNV of UGT2B17 gene in BPH. ..
- Guo B, Defaveri J, Sotelo G, Nair A, Merilä J. Population genomic evidence for adaptive differentiation in Baltic Sea three-spined sticklebacks. BMC Biol. 2015;13:19 pubmed publisher..Taken together, our results provide strong evidence for heterogenic genomic divergence driven by local adaptation in the face of gene flow along an environmental gradient in the post-glacially formed Baltic Sea. ..
- Davison L, Holder A, Catchpole B, O Callaghan C. The Canine POMC Gene, Obesity in Labrador Retrievers and Susceptibility to Diabetes Mellitus. J Vet Intern Med. 2017;31:343-348 pubmed publisher..31). This study adds to the existing scientific literature indicating that there is little evidence for a direct link between obesity and DM in dogs. ..
- Akulenko L, Kasyan G, Kozlova Y, Tupikina N, Vishnevsky D, Pushkar D. [Female pelvic floor dysfunction from the perspectives of genetic studies]. Urologiia. 2017;:76-81 pubmed..The systematic accumulation of data, their reproduction in different populations and ethnic groups is necessary to further generalize the evidence on the pathogenesis and the functional significance of each gene variant. ..
- Blazer A, Wang B, Simpson D, Kirchhoff T, Heffron S, Clancy R, et al. Apolipoprotein L1 risk variants associate with prevalent atherosclerotic disease in African American systemic lupus erythematosus patients. PLoS ONE. 2017;12:e0182483 pubmed publisher..5; p = 0.04). Taken together, the APOL1 RAs associate with prevalent atherosclerotic CVD in this cohort of AA SLE patients, perhaps reflecting a potentiating effect of SLE on APOL1-related cardiovascular phenotypes. ..
- Yang Y, Zhang L, Li S, Zhu X, Sundaresan P. Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma. Genet Test Mol Biomarkers. 2017;21:252-258 pubmed publisher..2421G>A, p.W807X) in LTBP2 in eight Indian families. Among the five mutations identified, G466V in CYP1B1 and W807X in LTBP2 represent novel mutations. Our study expands the mutational spectrum of PCG in the Indian population. ..
- Matzaraki V, Kumar V, Wijmenga C, Zhernakova A. The MHC locus and genetic susceptibility to autoimmune and infectious diseases. Genome Biol. 2017;18:76 pubmed publisher..Further work in this area will help to distinguish between alternative hypotheses for the role of pathogens in autoimmune disease development. ..
- He S, Qin Q, Lin L, Chen Q, Yi S, Wei H, et al. Complex Interaction of Hb Q-Thailand with ?0- and ?0-Thalassemia in a Chinese Family. Hemoglobin. 2017;41:68-72 pubmed publisher..Our study will provide some clinical manifestations, laboratory diagnosis and genetic counseling for complex hemoglobinopathies. ..
- Sugiura K. Autoinflammatory diseases in dermatology: DITRA and CAMPS. Nihon Rinsho Meneki Gakkai Kaishi. 2017;40:169-173 pubmed publisher..GPP without PsV and PRP type V are representative diseases of DITRA and CAMPS, respectively. ..
- Marzbanrad F, Hambly B, Ng E, Tamayo M, Matthews S, Karmakar C, et al. Relationship between heart rate variability and angiotensinogen gene polymorphism in diabetic and control individuals. Conf Proc IEEE Eng Med Biol Soc. 2014;2014:6683-6 pubmed publisher..Furthermore, a separate analysis demonstrated that most of the significant differences for HRV were between the diabetic group with I/I genotype and I/D and D/D groups. ..
- Jin M, Gu S, Ye D, Li Y, Jing F, Li Q, et al. Association between genetic variants in the promoter region of a novel antisense long noncoding RNA RP11-392P7.6 and colorectal cancer risk. Environ Mol Mutagen. 2017;58:434-442 pubmed publisher..Environ. Mol. Mutagen. 58:434-442, 2017. © 2017 Wiley Periodicals, Inc. ..
- Zou S, Zhang J, Zhang Z. A novel approach for predicting microbe-disease associations by bi-random walk on the heterogeneous network. PLoS ONE. 2017;12:e0184394 pubmed publisher..In conclusion, our method can be considered as an effective computational model for predicting novel microbe-disease associations. ..
- Wang J, Xiang J, Wu L, Bai Y, Chen Z, Yin X, et al. A genetic variant in long non-coding RNA MALAT1 associated with survival outcome among patients with advanced lung adenocarcinoma: a survival cohort analysis. BMC Cancer. 2017;17:167 pubmed publisher..However, these results need to be validated in larger populations of lung cancer and the biological function of this variant still warrants further investigation. ..
- Li M, Rao M, Chen K, Zhou J, Song J. Selection of reference genes for gene expression studies in heart failure for left and right ventricles. Gene. 2017;620:30-35 pubmed publisher..The combination of RPL5, GAPDH and PSMB4 is suitable for the right ventricle and the combination of GAPDH, REEP5 and RAB7A is suitable for the left ventricle. ..
- Seto J, Quinlan K, Lek M, Zheng X, Garton F, MacArthur D, et al. ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling. J Clin Invest. 2013;123:4255-63 pubmed publisher..In addition, we have demonstrated that the sarcomeric ?-actinins play a role in the regulation of calcineurin signaling. ..
- Espiard S, Drougat L, LibÃ© R, AssiÃ© G, Perlemoine K, Guignat L, et al. ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences. J Clin Endocrinol Metab. 2015;100:E926-35 pubmed publisher..Index cases of mutation carriers show a more severe hypercortisolism and larger adrenals. ARMC5 genotyping may help to identify clinical forms of PBMAH better and may also allow earlier diagnosis of this disease. ..
- Apolinário T, Paiva C, Agostinho L. REVIEW-ARTICLE Intermediate alleles of Huntington's disease HTT gene in different populations worldwide: a systematic review. Genet Mol Res. 2017;16: pubmed publisher..45 to 8.7% and of individuals with family history of HD ranged from 0.05 to 5.1%. The higher frequency of IAs in the general population (8.7%) was found in one Brazilian cohort. ..
- Gazzo A, Raimondi D, Daneels D, Moreau Y, Smits G, Van Dooren S, et al. Understanding mutational effects in digenic diseases. Nucleic Acids Res. 2017;45:e140 pubmed publisher..Together, our results show that digenic disease data generates novel insights, providing a glimpse into the oligogenic realm. ..
- Sun S, Wang M, Song H, Wu T, Wei H, He S, et al. SCAP gene polymorphisms decrease the risk of nonalcoholic fatty liver disease in females with metabolic syndrome. J Genet. 2013;92:565-70 pubmed
- Ma J, Zhou Y, Xu J, Liu X, Wang Y, Deng Y, et al. Association study of TREM2 polymorphism rs75932628 with late-onset Alzheimer's disease in Chinese Han population. Neurol Res. 2014;36:894-6 pubmed publisher..Our study suggested that TREM2 (rs75932628-T) was rare in Chinese Han population. Further association studies with large samples are needed to further study the association of TREM2 with late-onset Alzheimer's disease. ..
- Kushanov F, Buriev Z, Shermatov S, Turaev O, Norov T, Pepper A, et al. QTL mapping for flowering-time and photoperiod insensitivity of cotton Gossypium darwinii Watt. PLoS ONE. 2017;12:e0186240 pubmed publisher..Identified markers should be useful for marker-assisted selection in cotton breeding to improve early flowering characteristics...
- de la Garza Puentes A, Montes Goyanes R, Chisaguano Tonato A, Torres Espínola F, Arias García M, de Almeida L, et al. Association of maternal weight with FADS and ELOVL genetic variants and fatty acid levels- The PREOBE follow-up. PLoS ONE. 2017;12:e0179135 pubmed publisher..In the presence of FADS2 and ELOVL2 SNPs, overweight/obese women showed higher n-3 LC-PUFA production indexes than women with normal weight, but this was not enough to obtain a higher n-3 LC-PUFA concentration. ..
- Best L, Azure C, Segarra A, Enright K, Hamley S, Jerome D, et al. Genetic variants and risk of asthma in an American Indian population. Ann Allergy Asthma Immunol. 2017;119:31-36.e1 pubmed publisher..American Indian children also appear to have an increased risk of asthma associated with obesity. ..
- Hatzikotoulas K, Gilly A, Zeggini E. Using population isolates in genetic association studies. Brief Funct Genomics. 2014;13:371-7 pubmed publisher..we discuss the advantages of this approach and review study design and analytical considerations of genetic association studies focusing on isolates...
- Kelemen L, Lawrenson K, Tyrer J, Li Q, Lee J, Seo J, et al. Genome-wide significant risk associations for mucinous ovarian carcinoma. Nat Genet. 2015;47:888-97 pubmed publisher..1. Overexpressing HOXD9 in MOC cells augmented the neoplastic phenotype. These findings provide the first evidence for MOC susceptibility variants and insights into the underlying biology of the disease. ..
- Ratanaphan A, Panomwan P, Canyuk B, Maipang T. Identification of novel intronic BRCA1 variants of uncertain significance in a Thai hereditary breast cancer family. J Genet. 2011;90:327-31 pubmed
- Enstrom M, Held K, Ramage B, Brittnacher M, Gallagher L, Manoil C. Genotype-phenotype associations in a nonmodel prokaryote. MBio. 2012;3: pubmed publisher..In this study, we describe such an approach based on phenotypic analysis of a comprehensive, sequence-defined transposon mutant library. ..
- Yassaee V, Emamalizadeh B, Omrani M. Screening for genomic rearrangements at BRCA1 locus in Iranian women with breast cancer using multiplex ligation-dependent probe amplification. J Genet. 2013;92:131-4 pubmed
- Moirano G, Zugna D, Grasso C, Mirabelli D, Lista P, Ciuffreda L, et al. Postnatal risk factors for testicular cancer: The EPSAM case-control study. Int J Cancer. 2017;141:1803-1810 pubmed publisher..40, 95% CI: 1.08-5.29) and ever employment in adolescence (OR: 2.59, 95% CI: 0.83-8.10). Our results suggest that postnatal exposures could play a role in testicular cancer aetiology, at least when acting in puberty or adolescence. ..
- Liu L, Qiu X. Association between the receptor for advanced glycation end products gene polymorphisms and coronary artery disease. Mol Biol Rep. 2013;40:6097-105 pubmed..79, 95 % CI 0.58-1.07, P(Z) = 0.13]. In conclusion, this meta-analysis suggested that possession of the -374A allele may be a risk factor in CAD among Caucasian patients with type two diabetes. ..
- Silverman I, Li F, Alexander A, Goff L, Trapnell C, Rinn J, et al. RNase-mediated protein footprint sequencing reveals protein-binding sites throughout the human transcriptome. Genome Biol. 2014;15:R3 pubmed publisher..From this analysis, we identify numerous putative RBP-binding motifs, reveal novel insights into co-binding by RBPs, and uncover a significant enrichment for disease-associated polymorphisms within RBP interaction sites. ..
- Boddy A, Harrison P, Montgomery S, Caravas J, Raghanti M, Phillips K, et al. Evidence of a Conserved Molecular Response to Selection for Increased Brain Size in Primates. Genome Biol Evol. 2017;9:700-713 pubmed publisher..Understanding these commonalities is essential for distinguishing human-specific selection events from general trends in brain evolution...
- Yoshioka M, Iehisa J, Ohno R, Kimura T, Enoki H, Nishimura S, et al. Three dominant awnless genes in common wheat: Fine mapping, interaction and contribution to diversity in awn shape and length. PLoS ONE. 2017;12:e0176148 pubmed publisher..On the other hand, the dominant B1 allele acted as a suppressor of the hooded phenotype. These three awning inhibitors largely contribute to the genetic variation in awn length and shape of common wheat. ..
- Sabet S, El Sayed S, Mohamed H, El Shinawi M, Mohamed M. Inflammatory breast cancer: High incidence of GCC haplotypes (-1082A/G, -819T/C, and -592A/C) in the interleukin-10 gene promoter correlates with over-expression of interleukin-10 in patients' carcinoma tissues. Tumour Biol. 2017;39:1010428317713393 pubmed publisher..001) by 5.28-fold and 8.95-fold than non-inflammatory breast cancer and healthy control, respectively, where GCC haplotype significantly increased interleukin-10 gene expression (r?=?0.9, p?<?0.001). ..
- Fan S, Xu Y, Liu B, He W, Zhang B, Su J, et al. Molecular characterization and expression analysis of the myostatin gene and its association with growth traits in Noble scallop (Chlamys nobilis). Comp Biochem Physiol B Biochem Mol Biol. 2017;212:24-31 pubmed publisher..The CC and AC genotypes of g.-579A/C had significantly higher growth trait values than that of genotype AA (P<0.05). These results suggest that CnMSTN could be used as a candidate gene for the selective breeding of C. nobilis. ..
- Zhang M, Pinson S, Tarpley L, Huang X, Lahner B, Yakubova E, et al. Mapping and validation of quantitative trait loci associated with concentrations of 16 elements in unmilled rice grain. Theor Appl Genet. 2014;127:137-65 pubmed..A number of interesting patterns were found, including a strong Mg–P–K complex. ..
- Kansler E, Verma A, Langdon E, Simon Vermot T, Yin A, Lee W, et al. Melanoma genome evolution across species. BMC Genomics. 2017;18:136 pubmed publisher..The approaches described here will be broadly applicable to the diverse array of cancer models available in the zebrafish, which can be used to inform human cancer genomics. ..
- de Azevedo Peixoto L, Moellers T, Zhang J, Lorenz A, Bhering L, Beavis W, et al. Leveraging genomic prediction to scan germplasm collection for crop improvement. PLoS ONE. 2017;12:e0179191 pubmed publisher..Further research will confirm the applicability of the proposed approach to other complex disease resistance traits and in other crops. ..
- Nelson C, Goel A, Butterworth A, Kanoni S, Webb T, Marouli E, et al. Association analyses based on false discovery rate implicate new loci for coronary artery disease. Nat Genet. 2017;49:1385-1391 pubmed publisher..2% of CAD heritability and identify 243 loci that implicate pathways in blood vessel morphogenesis as well as lipid metabolism, nitric oxide signaling and inflammation. ..
- Cai G, Zhang X, Weng W, Shi G, Xue S, Zhang B. Associations between PPARG polymorphisms and the risk of essential hypertension. PLoS ONE. 2017;12:e0181644 pubmed publisher..719, 95% CI: 0.537-0.963, P = 0.027; for dominant model, OR = 0.653, 95% CI: 0.439-0.972, P = 0.036). Our meta-analysis suggested that the PPARG polymorphisms might be associated with the risk of EH. ..
- Xia J, Sun R. Association between the polymorphisms in XPG gene and gastric cancer susceptibility in Chinese populations: A PRISMA-compliant meta-analysis. Medicine (Baltimore). 2017;96:e8213 pubmed publisher..However, studies with a larger number of subjects among different ethnic groups are needed to further validate the results. ..
- Markakis M, Soedring V, Dantzer V, Christensen K, Anistoroaei R. Association of MITF gene with hearing and pigmentation phenotype in Hedlund white American mink (Neovison vison). J Genet. 2014;93:477-81 pubmed
- Nashabat M, Maegawa G, Nissen P, Nexo E, Al Shamrani H, Al Owain M, et al. Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations. J Pediatr Hematol Oncol. 2017;39:e430-e436 pubmed publisher..Early detection of the disease and early initiation of aggressive parenteral treatment is probably associated with better prognosis and disease control. ..
- Yang X, Li W, Du J, Yuan S, He W, Zhang Q, et al. [Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34:342-346 pubmed publisher..Identification of causative mutations in the BPES patients has provided a basis for genetic counseling and reproductive guidance. The novel mutations have enriched the mutation spectrum of the FOXL2 gene. ..
- Haerian M, Haerian B, Molanaei S, Kosari F, Sabeti S, Bidari Zerehpoosh F, et al. Lack of association of CASC8 rs1447295 with colorectal cancer in Iranian population: A multicenter case-control study. Gene. 2017;634:74-76 pubmed publisher..In conclusion, it is unlikely that the rs1447295 polymorphism is a risk variant for the development of CRC in Iranian population. ..
- Bentham R, Bryson K, Szabadkai G. MCbiclust: a novel algorithm to discover large-scale functionally related gene sets from massive transcriptomics data collections. Nucleic Acids Res. 2017;45:8712-8730 pubmed publisher..The identified massive biclusters can be used to develop improved transcriptomics based diagnosis tools for diseases caused by altered gene expression, or used for further network analysis to understand genotype-phenotype correlations. ..
- Orosz O, Rajta I, Vajas A, Takacs L, Csutak A, Fodor M, et al. Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X. Invest Ophthalmol Vis Sci. 2017;58:1834-1842 pubmed publisher..To the best of our knowledge, this is the first report on the joint effect of these toxic haplotypes in the two opsin genes on chromosome X. ..
- Tan X, Wang G, Tang Y, Bai J, Ye L. Association of ADIPOQ and ADIPOR variants with risk of colorectal cancer: A meta-analysis. J Huazhong Univ Sci Technolog Med Sci. 2017;37:161-171 pubmed publisher..And large well-designed studies are still needed for further evaluation of rs822396 and rs1063538, especially for their interaction and combined effect in the correlation with CRC risk. ..
- Lolas Hamameh S, Renbaum P, Kamal L, Dweik D, Salahat M, Jaraysa T, et al. Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53. Int J Cancer. 2017;141:750-756 pubmed publisher..Palestinian women with young onset or familial breast cancer and their families would benefit from genetic analysis and counseling. ..
- Hickey J, Chiurugwi T, MacKay I, Powell W. Genomic prediction unifies animal and plant breeding programs to form platforms for biological discovery. Nat Genet. 2017;49:1297-1303 pubmed publisher..We propose a strategy for the use of genomic selection as a unifying approach to deliver innovative 'step changes' in the rate of genetic gain at scale. ..
- Bingham C, Fernandez S, Fittipaldi P, Dempsey P, Ruth K, Cristofanilli M, et al. Mutational studies on single circulating tumor cells isolated from the blood of inflammatory breast cancer patients. Breast Cancer Res Treat. 2017;163:219-230 pubmed publisher..Our results indicate that CTCs could represent a non-invasive source of cancer cells from which to determine genetic markers as the disease progresses and identify potential therapeutic targets in IBC patients. ..
- Shi D, Wu F, Gao F, Qing X, Shao Z. Prognostic value of long non-coding RNA CCAT1 expression in patients with cancer: A meta-analysis. PLoS ONE. 2017;12:e0179346 pubmed publisher..And the expression level of CCAT1 was associated with clinicopathological features in relevant cancers. ..
- Simón D, Fajardo A, Soñora M, Delfraro A, Musto H. Host influence in the genomic composition of flaviviruses: A multivariate approach. Biochem Biophys Res Commun. 2017;492:572-578 pubmed publisher..Within a vertebrate environment, natural selection appears to be acting on the viral genome to overcome the immune system. On the other side, within an arthropod environment, mutational biases seem to be the dominant forces. ..
- Hirabayashi S, Wlodarski M, Kozyra E, Niemeyer C. Heterogeneity of GATA2-related myeloid neoplasms. Int J Hematol. 2017;106:175-182 pubmed publisher..The high-risk MDS subtypes and karyotypes, and the underlying immunodeficiency guide decision-making toward timely stem cell transplantation. ..
- Lu X, Yu W, Tao Y, Zhao P, Li K, Tang L, et al. Contribution of transforming growth factor ? polymorphisms to nonsyndromic orofacial clefts: a HuGE review and meta-analysis. Am J Epidemiol. 2014;179:267-81 pubmed publisher..In summary, this meta-analysis provided a robust estimate of the positive association of the TGFA/TaqI polymorphism with both CL/P and CP and suggests that persons with an A1 allele may have a markedly decreased risk of CL/P. ..
- ..Taking into account the function of p53 as an activator of transcription, recent results point to an unsophisticated means of regulation. ..
- Upadhyaya B, Larsen T, Barwari S, Louwagie E, Baack M, Dey M. Prenatal Exposure to a Maternal High-Fat Diet Affects Histone Modification of Cardiometabolic Genes in Newborn Rats. Nutrients. 2017;9: pubmed publisher..These results indicate that maternal HF-diet changes the cardiac histone signature in offspring suggesting a fuel-mediated epigenetic reprogramming of cardiac tissue in utero. ..
- Rolim I, Duarte N, Barata G, Costa J, Gardete Correia L, Boavida J, et al. Immunoglobulin M gene association with autoantibody reactivity and type 1 diabetes. Immunogenetics. 2017;69:429-437 pubmed publisher..We propose that the control of autoantibody generation by IGH polymorphisms is a component of the complex architecture of T1D genetic susceptibility. ..
- Xiong X, Li S, Cai Y, Chen F. Targeted sequencing in FGF/FGFR genes and association analysis of variants for mandibular prognathism. Medicine (Baltimore). 2017;96:e7240 pubmed publisher..Future studies with larger sample sizes and more comprehensive genome coverage, and also in other population are required to replicate these findings. ..
- Arbab M, Tahir S, Niazi M, Ishaq M, Hussain A, Siddique P, et al. TNF-Î± Genetic Predisposition and Higher Expression of Inflammatory Pathway Components in Keratoconus. Invest Ophthalmol Vis Sci. 2017;58:3481-3487 pubmed publisher..Moreover, this single nucleotide polymorphism (SNP) was observed to be associated with deregulated expression of downstream molecules, thus further reinforcing the role of the inflammatory pathway components in the development of KC. ..
- Persyn E, Karakachoff M, Le Scouarnec S, Le Clézio C, Campion D, Consortium F, et al. DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease. PLoS ONE. 2017;12:e0179364 pubmed publisher..DoEstRare, by integrating variant position information, gives new opportunities to explain disease susceptibility. DoEstRare is implemented in a user-friendly R package. ..
- Archer N, Pérez Andreu V, Stoltze U, Scheurer M, Wilkinson A, Lin T, et al. Family-based exome-wide association study of childhood acute lymphoblastic leukemia among Hispanics confirms role of ARID5B in susceptibility. PLoS ONE. 2017;12:e0180488 pubmed publisher..in our study were >20% higher than those reported among non-Hispanic white populations in previous genetic association studies. Our results confirmed the role of ARID5B in childhood ALL susceptibility among Hispanics; however, our ..