genetic loci


Summary: Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.

Top Publications

  1. Nalls M, Plagnol V, Hernandez D, Sharma M, Sheerin U, Saad M, et al. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet. 2011;377:641-9 pubmed publisher
    ..These data provide an insight into the genetics of Parkinson's disease and the molecular cause of the disease and could provide future targets for therapies. Wellcome Trust, National Institute on Aging, and US Department of Defense. ..
  2. Li N, Xiao L, Cama V, Ortega Y, Gilman R, Guo M, et al. Genetic recombination and Cryptosporidium hominis virulent subtype IbA10G2. Emerg Infect Dis. 2013;19:1573-82 pubmed publisher
    ..We conducted sequence analyses of 32 genetic loci of 53 C...
  3. Saleheen D, Zhao W, Young R, Nelson C, Ho W, Ferguson J, et al. Loss of Cardioprotective Effects at the ADAMTS7 Locus as a Result of Gene-Smoking Interactions. Circulation. 2017;135:2336-2353 pubmed publisher
    ..Increased vascular ADAMTS7 expression may contribute to the loss of CHD protection in smokers. ..
  4. Herdman C, Mars J, Stefanovsky V, Tremblay M, Sabourin Felix M, Lindsay H, et al. A unique enhancer boundary complex on the mouse ribosomal RNA genes persists after loss of Rrn3 or UBF and the inactivation of RNA polymerase I transcription. PLoS Genet. 2017;13:e1006899 pubmed publisher
    ..Our data define a poised state of rDNA chromatin and place the Enhancer Boundary Complex as the likely entry point for chromatin remodelling complexes. ..
  5. Seo H, Park Y, Min B, Seo M, Kim J. Evaluation of exome variants using the Ion Proton Platform to sequence error-prone regions. PLoS ONE. 2017;12:e0181304 pubmed publisher
    ..A refined calling algorithm with better polymerase may improve the performance of the Ion Proton sequencing platform. ..
  6. Zhong Z, Tian Y, Song Y, Deng L, Li J, Ren Z, et al. Molecular characterization and multi-locus genotypes of Enterocytozoon bieneusi from captive red kangaroos (Macropus Rufus) in Jiangsu province, China. PLoS ONE. 2017;12:e0183249 pubmed publisher
    ..bieneusi genotype and seven MLGs (MLG1-7) were found in red kangaroos. Our findings suggest that infected kangaroo may act as potential reservoirs of E. bieneusi and be source to transmit infections to other animal. ..
  7. Kuroki S, Okashita N, Baba S, Maeda R, Miyawaki S, Yano M, et al. Rescuing the aberrant sex development of H3K9 demethylase Jmjd1a-deficient mice by modulating H3K9 methylation balance. PLoS Genet. 2017;13:e1007034 pubmed publisher
    ..Our study not only reveals the molecular mechanism underlying the tuning of Sry expression but also provides proof on the principle of therapeutic strategies based on the pharmacological modulation of epigenetic balance. ..
  8. Popperud T, Viken M, Kerty E, Lie B. Juvenile myasthenia gravis in Norway: HLA-DRB1*04:04 is positively associated with prepubertal onset. PLoS ONE. 2017;12:e0186383 pubmed publisher
    ..4%, P = 0.0002) but also increased among prepubertal onset MG (23.5%, P = 0.05). This study provides novel information about HLA susceptibility alleles in Norwegian juvenile MG where HLA-DRB1*04:04 was associated with prepubertal onset. ..
  9. Li M, Sham P, Wang J. Genetic variant representation, annotation and prioritization in the post-GWAS era. Cell Res. 2012;22:1505-8 pubmed publisher

More Information

Publications109 found, 100 shown here

  1. Choudhary G, Ranjitkumar N, Surapaneni M, Deborah D, Vipparla A, Anuradha G, et al. Molecular Genetic Diversity of Major Indian Rice Cultivars over Decadal Periods. PLoS ONE. 2013;8:e66197 pubmed publisher
    ..It was obvious from the present findings, that genetic diversity was progressively on the rise in the varieties released during the decadal periods, between 1970s and 2000s. ..
  2. Greenwald W, Li H, Smith E, Benaglio P, Nariai N, Frazer K. Pgltools: a genomic arithmetic tool suite for manipulation of Hi-C peak and other chromatin interaction data. BMC Bioinformatics. 2017;18:207 pubmed publisher
    ..Source code, an in-depth manual, and a tutorial are available publicly at , and a python module of the operations can be installed from PyPI via the PyGLtools module. ..
  3. Munoz Munoz J, Cartmell A, Terrapon N, Basle A, Henrissat B, Gilbert H. An evolutionarily distinct family of polysaccharide lyases removes rhamnose capping of complex arabinogalactan proteins. J Biol Chem. 2017;292:13271-13283 pubmed publisher
    ..This study illustrates how highly complex glycans can be used as a scaffold to discover new enzyme families within microbial ecosystems where carbohydrate metabolism is a major evolutionary driver. ..
  4. Maak S, Boettcher D, Komolka K, Tetens J, Wimmers K, Reinsch N, et al. Exclusion of sequence polymorphisms in the porcine ITGA5 and MIR148B loci as causal variation for congenital splay leg in piglets. Anim Genet. 2010;41:447-8 pubmed publisher
  5. . Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Lancet. 2013;381:1371-9 pubmed publisher
    ..These results provide evidence relevant to the goal of moving beyond descriptive syndromes in psychiatry, and towards a nosology informed by disease cause. National Institute of Mental Health. ..
  6. Finan C, Gaulton A, Krüger F, Lumbers R, Shah T, Engmann J, et al. The druggable genome and support for target identification and validation in drug development. Sci Transl Med. 2017;9: pubmed publisher
    ..We used this set of genes to inform the design of a new genotyping array, which will enable association studies of druggable genes for drug target selection and validation in human disease. ..
  7. Díaz Cárdenas B, Ruiz Sanchez E, Castro Felix P, Castañeda Gaytán G, Ruiz Santana S, Gadsden H. Species delimitation of the blue-spotted spiny lizard within a multilocus, multispecies coalescent framework, results in the recognition of a new Sceloporus species. Mol Phylogenet Evol. 2017;111:185-195 pubmed publisher
    ..Finally, based on the species delimitation results, we propose and describe a new species of Sceloporus: S. gadsdeni sp. nov. ..
  8. Connolly S, Heron E. Review of statistical methodologies for the detection of parent-of-origin effects in family trio genome-wide association data with binary disease traits. Brief Bioinform. 2015;16:429-48 pubmed publisher
  9. Yarmishyn A, Batagov A, Tan J, Sundaram G, Sampath P, Kuznetsov V, et al. HOXD-AS1 is a novel lncRNA encoded in HOXD cluster and a marker of neuroblastoma progression revealed via integrative analysis of noncoding transcriptome. BMC Genomics. 2014;15 Suppl 9:S7 pubmed publisher
    ..Our findings greatly extend the number of noncoding RNAs functionally implicated in tumor development and patient treatment and highlight their role as potential prognostic biomarkers of neuroblastomas. ..
  10. Mackay D, Eggermann T, Buiting K, Garin I, Netchine I, Linglart A, et al. Multilocus methylation defects in imprinting disorders. Biomol Concepts. 2015;6:47-57 pubmed publisher
    ..The first steps for understanding the functions of DNA methylation and its regulation in mammalian development have led us to identify common (epi)genetic mechanisms involved in the eight human congenital imprinting disorders. ..
  11. Christophersen I, Rienstra M, Roselli C, Yin X, Geelhoed B, Barnard J, et al. Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. Nat Genet. 2017;49:946-952 pubmed publisher
    ..Fourteen genetic loci have been associated with atrial fibrillation in European and Asian ancestry groups...
  12. Greene D, Richardson S, Turro E. A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases. Am J Hum Genet. 2017;101:104-114 pubmed publisher
    ..We show that it can identify multiple loci involved in rare diseases, while correctly inferring the modes of inheritance, the likely pathogenic variants, and the variant classes responsible. ..
  13. Kaye E, Kurbidaeva A, Wolle D, Aoki T, Schedl P, Larschan E. Drosophila Dosage Compensation Loci Associate with a Boundary-Forming Insulator Complex. Mol Cell Biol. 2017;37: pubmed publisher
    ..Moreover, reducing the levels of two LBC components compromises MSL recruitment. Finally, we show that several of the CES that are physically linked to each other in vivo are LBC interactors. ..
  14. Meder B, Haas J, Sedaghat Hamedani F, Kayvanpour E, Frese K, Lai A, et al. Epigenome-Wide Association Study Identifies Cardiac Gene Patterning and a Novel Class of Biomarkers for Heart Failure. Circulation. 2017;136:1528-1544 pubmed publisher
    ..The present study provides to our knowledge the first epigenome-wide association study in living patients with heart failure using a multi-omics approach. ..
  15. Laskar R, Khan S. Assessment on induced genetic variability and divergence in the mutagenized lentil populations of microsperma and macrosperma cultivars developed using physical and chemical mutagenesis. PLoS ONE. 2017;12:e0184598 pubmed publisher
  16. Li Z, Chen J, Yu H, He L, Xu Y, Zhang D, et al. Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. Nat Genet. 2017;49:1576-1583 pubmed publisher
    ..Together, our findings provide novel insight into the genetic architecture and biological etiology of schizophrenia...
  17. Hudaiberdiev S, Shmakov S, Wolf Y, Terns M, Makarova K, Koonin E. Phylogenomics of Cas4 family nucleases. BMC Evol Biol. 2017;17:232 pubmed publisher
    ..Experimental characterization of the solo and MGE-encoded Cas4 nucleases is expected to reveal currently uncharacterized defense and anti-defense systems and their interactions with CRISPR-Cas systems. ..
  18. Zhao P, Zhang Z, Ke H, Yue Y, Xue D. Oligonucleotide-based targeted gene editing in C. elegans via the CRISPR/Cas9 system. Cell Res. 2014;24:247-50 pubmed publisher
  19. Ruiz Narvaez E. Redundant enhancers and causal variants in the TCF7L2 gene. Eur J Hum Genet. 2014;22:1243-6 pubmed publisher
  20. Pashos E, Park Y, Wang X, Raghavan A, Yang W, Abbey D, et al. Large, Diverse Population Cohorts of hiPSCs and Derived Hepatocyte-like Cells Reveal Functional Genetic Variation at Blood Lipid-Associated Loci. Cell Stem Cell. 2017;20:558-570.e10 pubmed publisher
    ..These findings endorse an iPSC-based experimental framework to discover functional variants and genes contributing to complex human traits. ..
  21. Vasil ev V, Martirosian I, Shibalev D, Kulikov A, Lazebnyi O, Burkova V, et al. [Polymorphism of the dopamine D4 receptor (DRD4) and serotonin transporter (5-HTTL) gene promoter regions in African tribes of Hadza and Datoga]. Genetika. 2011;47:255-9 pubmed
    ..77; d.f = 1; p = 0.052). ..
  22. Flynn T, Phipps Green A, Hollis Moffatt J, Merriman M, Topless R, Montgomery G, et al. Association analysis of the SLC22A11 (organic anion transporter 4) and SLC22A12 (urate transporter 1) urate transporter locus with gout in New Zealand case-control sample sets reveals multiple ancestral-specific effects. Arthritis Res Ther. 2013;15:R220 pubmed
    ..Further fine mapping of the association signal is needed using trans-ancestral re-sequence data. ..
  23. Beaumont R, Horikoshi M, McCarthy M, Freathy R. How Can Genetic Studies Help Us to Understand Links Between Birth Weight and Type 2 Diabetes?. Curr Diab Rep. 2017;17:22 pubmed publisher
    ..There are now nine genetic loci robustly implicated in both fetal growth and type 2 diabetes...
  24. Temple M, Cuskin F, Basle A, Hickey N, Speciale G, Williams S, et al. A Bacteroidetes locus dedicated to fungal 1,6-?-glucan degradation: Unique substrate conformation drives specificity of the key endo-1,6-?-glucanase. J Biol Chem. 2017;292:10639-10650 pubmed publisher
    ..We also noted that PUL1,6-?-glucan is syntenic to many PULs from other Bacteroidetes, suggesting that utilization of yeast and fungal cell wall 1,6-?-glucans is a widespread adaptation within the human microbiota. ..
  25. Saito S, Kurosawa A, Adachi N. Mechanistic basis for increased human gene targeting by promoterless vectors-roles of homology arms and Rad54 paralogs. FEBS J. 2017;284:2748-2763 pubmed publisher
    ..These studies provide additional important insight into the contribution of various DNA repair factors on the targeting mechanics. ..
  26. Iacoangeli A, Lui A, Haines A, Ohta Y, Flajnik M, Hsu E. Evidence for Ig Light Chain Isotype Exclusion in Shark B Lymphocytes Suggests Ordered Mechanisms. J Immunol. 2017;199:1875-1885 pubmed publisher
    ..Based on the mRNA content found in the B cell subpopulations, an order of L chain gene activation is suggested as: ?-2 followed by ?, then ? and ?. ..
  27. Dai C, Hao Y, He Y, Lei F. The absence of reproductive isolation between non-sister and deeply diverged mitochondrial lineages of the black-throated tit (Aegithalos concinnus) revealed by a multilocus genetic analysis in a contact zone. BMC Evol Biol. 2017;17:266 pubmed publisher
    ..The current findings also highlight the likely contribution of male-biased dispersal to male-biased gene flow among mitochondrial lineages; more efforts are needed to illustrate the evolutionary history of the black-throated tit. ..
  28. Noma K, Kamakaka R. The human Pol III transcriptome and gene information flow. Nat Struct Mol Biol. 2010;17:539-41 pubmed publisher
  29. . Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits. Nat Genet. 2016;48:867-76 pubmed publisher
  30. Bouvy Liivrand M, Hernández de Sande A, Pölönen P, Mehtonen J, Vuorenmaa T, Niskanen H, et al. Analysis of primary microRNA loci from nascent transcriptomes reveals regulatory domains governed by chromatin architecture. Nucleic Acids Res. 2017;45:9837-9849 pubmed publisher
    ..These results pave the way for building detailed regulatory maps of miRNA loci...
  31. Kim S, Matsumoto T, Kagawa H, Nakamura M, Hirohata R, Ueno A, et al. Microhomology-assisted scarless genome editing in human iPSCs. Nat Commun. 2018;9:939 pubmed publisher
    ..The utility and fidelity of our method is demonstrated in human iPSCs by editing the X-linked HPRT1 locus and biallelic modification of the autosomal APRT locus, eliciting disease-relevant metabolic phenotypes. ..
  32. Polko J, Temanni M, van Zanten M, van Workum W, Iburg S, Pierik R, et al. Illumina sequencing technology as a method of identifying T-DNA insertion loci in activation-tagged Arabidopsis thaliana plants. Mol Plant. 2012;5:948-50 pubmed publisher
  33. Ruiz A, Heilmann S, Becker T, Hernandez I, Wagner H, Thelen M, et al. Follow-up of loci from the International Genomics of Alzheimer's Disease Project identifies TRIP4 as a novel susceptibility gene. Transl Psychiatry. 2014;4:e358 pubmed publisher
    ..000655). Furthermore, we identify TRIP4 (rs74615166) as a novel genome-wide significant locus for Alzheimer's disease risk (odds ratio=1.31; confidence interval 95% (1.19-1.44); P=9.74 × 10(-)(9)). ..
  34. Yang J, Park T, Lee S, Seo J, Oh S, Cho E, et al. Molecular characterization and clinical course of MLL-ACTN4 rearrangement in therapy-related hematologic malignancies. Haematologica. 2014;99:e49-51 pubmed publisher
  35. Becker J, Pérot P, Cheynet V, Oriol G, Mugnier N, Mommert M, et al. A comprehensive hybridization model allows whole HERV transcriptome profiling using high density microarray. BMC Genomics. 2017;18:286 pubmed publisher
  36. Xiao F, Liu M, Chen B, Cao S, Fan L, Liu Z, et al. Effects of four novel genetic polymorphisms on clopidogrel efficacy in Chinese acute coronary syndromes patients. Gene. 2017;623:63-71 pubmed publisher
    ..One SNP rs16863352, may play a role in predicting unstable angina in acute coronary syndrome patients ?75years of age. ..
  37. Abdelsamed H, Moustaki A, Fan Y, Dogra P, Ghoneim H, Zebley C, et al. Human memory CD8 T cell effector potential is epigenetically preserved during in vivo homeostasis. J Exp Med. 2017;214:1593-1606 pubmed publisher
    ..These data demonstrate that effector-associated epigenetic programs are preserved during cytokine-driven subset interconversion of human memory CD8 T cells. ..
  38. Huo Z, Luo X, Zhan X, Chu Q, Xu Q, Yao J, et al. Genetic analysis of indel markers in three loci associated with Parkinson's disease. PLoS ONE. 2017;12:e0184269 pubmed publisher
    ..After stratification by gender, no significant differences were observed in any indels. These results indicate that the GIGYF2 indel may be associated with increased risk of PD in northern China. ..
  39. Kim S, Kleimeyer J, Ahmed M, Avins A, Fredericson M, Dragoo J, et al. Two genetic loci associated with ankle injury. PLoS ONE. 2017;12:e0185355 pubmed publisher
    ..Identifying genetic loci associated with these ankle injuries could shed light on their etiologies...
  40. Hoban S, Gaggiotti O, Bertorelle G. The number of markers and samples needed for detecting bottlenecks under realistic scenarios, with and without recovery: a simulation-based study. Mol Ecol. 2013;22:3444-50 pubmed
  41. Olumi A. Commentary on "identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array." Eeles RA, Olama AA, Benlloch S, Saunders EJ, Leongamornlert DA, Tymrakiewicz M, Ghoussaini M, Luccarini C, Dennis J, Jugur. Urol Oncol. 2014;32:211 pubmed publisher
    ..7-fold higher risk than the average of the population being profiled. These results will facilitate population risk stratification for clinical studies. ..
  42. Mååg J, Kaczorowski D, Panja D, Peters T, Bramham C, Wibrand K, et al. Widespread promoter methylation of synaptic plasticity genes in long-term potentiation in the adult brain in vivo. BMC Genomics. 2017;18:250 pubmed publisher
    ..Together, these data provide the first evidence of widespread regulation of methylation status in LTP-associated genes. ..
  43. Pisanu C, Preisig M, Castelao E, Glaus J, Pistis G, Squassina A, et al. A genetic risk score is differentially associated with migraine with and without aura. Hum Genet. 2017;136:999-1008 pubmed publisher
    ..We show that a GRS combining multiple genetic risk variants is associated with MWOA but not MWA, suggesting a different genetic susceptibility background underlying the two forms of migraine. ..
  44. Wu F, Ma J, Meng Y, Zhang D, Pascal Muvunyi B, Luo K, et al. Potential DNA barcodes for Melilotus species based on five single loci and their combinations. PLoS ONE. 2017;12:e0182693 pubmed publisher
    ..Taking full advantage of the barcode system, a clear taxonomic relationship can be applied to identify Melilotus species and enhance their practical production...
  45. Wray N, PURCELL S, Visscher P. Synthetic associations created by rare variants do not explain most GWAS results. PLoS Biol. 2011;9:e1000579 pubmed publisher
  46. Kausar T, Bhatti M, Ali M, Shaikh R, Ahmed Z. OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24. Clin Genet. 2013;84:91-3 pubmed publisher
  47. Lee M, Roos P, Sharma N, Atalar M, Evans T, Pellicore M, et al. Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites. Am J Hum Genet. 2017;100:751-765 pubmed publisher
    ..Our findings suggest that cryptic splice-site activation is more common than previously thought and should be routinely considered for all variants within the transcribed regions of genes. ..
  48. Byars S, Huang Q, Gray L, Bakshi A, Ripatti S, Abraham G, et al. Genetic loci associated with coronary artery disease harbor evidence of selection and antagonistic pleiotropy. PLoS Genet. 2017;13:e1006328 pubmed publisher
  49. Böhm A, Wagner R, Machicao F, Holst J, Gallwitz B, Stefan N, et al. DPP4 gene variation affects GLP-1 secretion, insulin secretion, and glucose tolerance in humans with high body adiposity. PLoS ONE. 2017;12:e0181880 pubmed publisher
    ..Whether this SNP underlies the reported inter-individual variance in responsiveness to DPP-4 inhibitors, at least in subjects with high body fat content, remains to be shown. ..
  50. Awata T. Vascular endothelial growth factor gene polymorphisms in susceptibility to coronary artery disease. Am J Hypertens. 2010;23:938-9 pubmed publisher
  51. . A two-stage meta-analysis identifies several new loci for Parkinson's disease. PLoS Genet. 2011;7:e1002142 pubmed publisher
  52. Hu Y, Tanaka T, Zhu J, Guan W, Wu J, Psaty B, et al. Discovery and fine-mapping of loci associated with MUFAs through trans-ethnic meta-analysis in Chinese and European populations. J Lipid Res. 2017;58:974-981 pubmed publisher
    ..Pathway-based analyses suggested that the identified loci were in unsaturated FA metabolism and signaling pathways. Our findings provide novel insight into the genetic basis relevant to MUFA metabolism and biology. ..
  53. Tsujita N, Kuwahara H, Koyama H, Yanaka N, Arakawa K, Kuniyoshi H. Molecular characterization of aspartylglucosaminidase, a lysosomal hydrolase upregulated during strobilation in the moon jellyfish, Aurelia aurita. Biosci Biotechnol Biochem. 2017;81:938-950 pubmed publisher
    ..Both inhibitors disturbed medusa morphogenesis at the oral end, suggesting involvement of lysosomal hydrolases in strobilation. ..
  54. Turker M, Grygoryev D, Lasarev M, Ohlrich A, Rwatambuga F, Johnson S, et al. Simulated space radiation-induced mutants in the mouse kidney display widespread genomic change. PLoS ONE. 2017;12:e0180412 pubmed publisher
    ..The level of genomic change produced by low fluence exposure to heavy ions is reminiscent of the extensive rearrangements seen in tumor genomes suggesting a potential initiation step in radiation carcinogenesis. ..
  55. Weinhold A, Kallenbach M, Baldwin I. Progressive 35S promoter methylation increases rapidly during vegetative development in transgenic Nicotiana attenuata plants. BMC Plant Biol. 2013;13:99 pubmed publisher
  56. Brown W. Exercise-associated DNA methylation change in skeletal muscle and the importance of imprinted genes: a bioinformatics meta-analysis. Br J Sports Med. 2015;49:1567-78 pubmed publisher
    ..Imprinted genes were identified in skeletal muscle gene networks and exercise-associated DNA methylation change. Exercise-associated DNA methylation modification could rewind the 'epigenetic clock' as we age. CRD42014009800. ..
  57. Gherardi S, Ripoche D, Mikaelian I, Chanal M, Teinturier R, Goehrig D, et al. Menin regulates Inhbb expression through an Akt/Ezh2-mediated H3K27 histone modification. Biochim Biophys Acta Gene Regul Mech. 2017;1860:427-437 pubmed publisher
    ..Our data suggests therefore that Menin could take an important part to the Ezh2-epigenetic repressive landscape in many cells and tissues through its capacity to modulate Akt phosphorylation. ..
  58. Martin Fernandez L, Gavidia Bovadilla G, Corrales I, Brunel H, Ramírez L, Lopez S, et al. Next generation sequencing to dissect the genetic architecture of KNG1 and F11 loci using factor XI levels as an intermediate phenotype of thrombosis. PLoS ONE. 2017;12:e0176301 pubmed publisher
    ..This study of KNG1 and F11 loci should help to understand the connection between genotypic variation and variation in FXI levels. The functional genetic variants should be useful as markers of thromboembolic risk. ..
  59. Munz M, Willenborg C, Richter G, Jockel Schneider Y, Graetz C, Staufenbiel I, et al. A genome-wide association study identifies nucleotide variants at SIGLEC5 and DEFA1A3 as risk loci for periodontitis. Hum Mol Genet. 2017;26:2577-2588 pubmed publisher
    ..This study identifies the first shared genetic risk loci of AgP and CP with genome-wide significance and highlights the role of innate and adaptive immunity in the etiology of periodontitis. ..
  60. Quiñones Lombraña A, Blair R, Blanco J. Investigation of the role of DNA methylation in the expression of ERBB2 in human myocardium. Gene. 2017;628:286-294 pubmed publisher
    ..DNA methylation in the ERBB2 locus may contribute to the variable expression of ERBB2 in human myocardium. ..
  61. Miyoshi Y. [Loss of heterozygosity (LOH) at BRCA1 loci in primary breast cancers]. Nihon Rinsho. 2012;70 Suppl 7:174-9 pubmed
  62. Linde C, Phillips R, Crisp M, Peakall R. Congruent species delineation of Tulasnella using multiple loci and methods. New Phytol. 2014;201:6-12 pubmed publisher
  63. Carty C, Bhattacharjee S, Haessler J, Cheng I, Hindorff L, Aroda V, et al. Analysis of metabolic syndrome components in >15 000 african americans identifies pleiotropic variants: results from the population architecture using genomics and epidemiology study. Circ Cardiovasc Genet. 2014;7:505-13 pubmed publisher
    ..We also identify pleiotropic associations that may be clinically useful in patient risk profiling and for informing translational research of potential gene targets and medications. ..
  64. Grover M, Ballouz S, Mohanasundaram K, George R, Sherman C, Crowley T, et al. Identification of novel therapeutics for complex diseases from genome-wide association data. BMC Med Genomics. 2014;7 Suppl 1:S8 pubmed publisher
    Human genome sequencing has enabled the association of phenotypes with genetic loci, but our ability to effectively translate this data to the clinic has not kept pace...
  65. Sauerwald N, Zhang S, Kingsford C, Bahar I. Chromosomal dynamics predicted by an elastic network model explains genome-wide accessibility and long-range couplings. Nucleic Acids Res. 2017;45:3663-3673 pubmed publisher
    ..Together, these results show that GNM provides a mathematically well-founded unified framework for modeling chromatin dynamics and assessing the structural basis of genome-wide observations. ..
  66. Eftekhari H, Tamaddoni A, Mahmoudi Nesheli H, Vakili M, Sedaghat S, Banihashemi A, et al. A Comprehensive Molecular Investigation of ?-Thalassemia in an Iranian Cohort from Different Provinces of North Iran. Hemoglobin. 2017;41:32-37 pubmed publisher
    ..These data may contribute to the establishment of a national mutation database, more accurate genetic counseling and prenatal diagnosis (PND). ..
  67. Duigou S, Boccard F. Long range chromosome organization in Escherichia coli: The position of the replication origin defines the non-structured regions and the Right and Left macrodomains. PLoS Genet. 2017;13:e1006758 pubmed publisher
    ..Altogether, our results suggest that the origin of replication plays a prominent role in chromosome organization in E. coli, as it determines structuring and localization of macrodomains in growing cell. ..
  68. Paganin M, Pigazzi M, Bresolin S, Masetti R, Fagioli F, Chiaretti S, et al. DNA methyltransferase 3a hot-spot locus is not mutated in pediatric patients affected by acute myeloid or T-cell acute lymphoblastic leukemia: an Italian study. Haematologica. 2011;96:1886-7 pubmed publisher
  69. Nagy S, Poczai P, Cernák I, Gorji A, Hegedûs G, Taller J. PICcalc: an online program to calculate polymorphic information content for molecular genetic studies. Biochem Genet. 2012;50:670-2 pubmed publisher
  70. State M, Sestan N. Neuroscience. The emerging biology of autism spectrum disorders. Science. 2012;337:1301-3 pubmed publisher
  71. Cipriano J, Carvalho A, Fernandes C, Gaspar M, Pires J, Bento J, et al. Evaluation of genetic diversity of Portuguese Pinus sylvestris L. populations based on molecular data and inferences about the future use of this germplasm. J Genet. 2013;92:e41-8 pubmed
  72. Roos A, Avins A, Ahmed M, Kleimeyer J, Roos T, Fredericson M, et al. Two Genetic Loci associated with Medial Collateral Ligament Injury. Int J Sports Med. 2017;38:501-507 pubmed publisher
    ..Identifying genetic loci associated with MCL injury could shed light on its etiology...
  73. 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. ..
  74. Barr K, Reinitz J. A sequence level model of an intact locus predicts the location and function of nonadditive enhancers. PLoS ONE. 2017;12:e0180861 pubmed publisher
    ..This model predicts a new enhancer that, when assayed in vivo, drives expression in a non-eve pattern. Incorporation of chromatin accessibility eliminates this inconsistency...
  75. Bailey Wilson J, Almasy L, de Andrade M, Bailey J, Bickeböller H, Cordell H, et al. Genetic Analysis Workshop 14: microsatellite and single-nucleotide polymorphism marker loci for genome-wide scans. BMC Genet. 2005;6 Suppl 1:S1 pubmed
  76. Laidò G, Mangini G, Taranto F, Gadaleta A, Blanco A, Cattivelli L, et al. Genetic Diversity and Population Structure of Tetraploid Wheats (Triticum turgidum L.) Estimated by SSR, DArT and Pedigree Data. PLoS ONE. 2013;8:e67280 pubmed publisher
    ..subspecies and the genetic potential of landraces and wild accessions for the detection of unexplored alleles. ..
  77. Tamari M, Saeki H, Hayashi M, Umezawa Y, Ito T, Fukuchi O, et al. An association study of 36 psoriasis susceptibility loci for psoriasis vulgaris and atopic dermatitis in a Japanese population. J Dermatol Sci. 2014;76:156-7 pubmed publisher
  78. Nishijima R, Iehisa J, Matsuoka Y, Takumi S. The cuticular wax inhibitor locus Iw2 in wild diploid wheat Aegilops tauschii: phenotypic survey, genetic analysis, and implications for the evolution of common wheat. BMC Plant Biol. 2014;14:246 pubmed publisher
    ..tauschii. Our results supported the previous assumption that the D-genome donor of common wheat could have been any Ae. tauschii variant that carried the recessive iw2 allele. ..
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