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Swasti Raychaudhuri, Rachana Banerjee, Subhasis Mukhopadhyay, N. Bhattacharyya (2014)
Conserved C-terminal nascent peptide binding domain of HYPK facilitates its chaperone-like activityJournal of Biosciences, 39
Ulf Hoffert (2009)
Reddish , scaly , and itchy : how proteases and their inhibitors contribute to inflammatory skin diseases
P. Moulton-Levy, C. Jackson, H. Levy, P. Fialkow (1984)
Multiple cell origin of traumatically induced keloids.Journal of the American Academy of Dermatology, 10 6
A. Emami, A. Halim, I. Salahshourifar, S. Yussof, T. Khoo, T. Kannan (2012)
Association of TGFβ1 and SMAD4 variants in the etiology of keloid scar in the Malay populationArchives of Dermatological Research, 304
S. Purcell, B. Neale, K. Todd-Brown, L. Thomas, M. Ferreira, David Bender, J. Maller, P. Sklar, P. Bakker, M. Daly, P. Sham (2007)
PLINK: a tool set for whole-genome association and population-based linkage analyses.American journal of human genetics, 81 3
S. Russell, J. Russell, K. Trupin, Angela Gayden, S. Opalenik, L. Nanney, A. Broquist, Latha Raju, Scott Williams (2010)
Epigenetically altered wound healing in keloid fibroblasts.The Journal of investigative dermatology, 130 10
B. Shih, A. Bayat (2010)
Genetics of keloid scarringArchives of Dermatological Research, 302
G. Yédomon, Hugues Adégbidi, Felix Atadokpédé, F. Akpadjan, E. Mouto, F. Ango-Padonou (2012)
[Keloids on dark skin: a consecutive series of 456 cases].Medecine et sante tropicales, 22 3
G. Saed, D. Ladin, J. Olson, Xue-fei Han, Z. Hou, D. Fivenson (2000)
Analysis of p 53 Gene Mutations in Keloids Using Polymerase Chain Reaction – Based Single-Strand Conformational Polymorphism and DNA Sequencing
F. Niessen, P. Spauwen, Joost Schalkwijk, M. Kon (1999)
On the nature of hypertrophic scars and keloids: a review.Plastic and reconstructive surgery, 104 5
J. Zuo, C. Zhang, C. Ren, D. Pang, Y. Li, X. Xie, Z. Tang, X. Jiang (2015)
Secretory leukocyte protease inhibitor is a proliferation and survival factor for pancreatic cancer cellsClinical and Translational Oncology, 17
(2012)
Tumor necrosis factor - alpha ( TNF - alpha ) is a therapeutic target for impaired cutaneous wound healing
A. Habgood, A. Tatler, J. Porte, S. Wahl, G. Laurent, A. John, S. Johnson, G. Jenkins (2016)
Secretory leukocyte protease inhibitor gene deletion alters bleomycin-induced lung injury, but not development of pulmonary fibrosisLaboratory investigation; a journal of technical methods and pathology, 96
M. Rosso, L. Lapyckyj, N. Amiano, M. Besso, Mercedes Sánchez, E. Chuluyan, M. Vazquez-Levin (2014)
Secretory Leukocyte Protease Inhibitor (SLPI) expression downregulates E‐cadherin, induces β‐catenin re‐localisation and triggers apoptosis‐related events in breast cancer cellsBiology of the Cell, 106
G. Ashcroft, M. Jeong, J. Ashworth, M. Hardman, W. Jin, N. Moutsopoulos, T. Wild, N. McCartney-Francis, Davis Sim, G. McGrady, Xiao-yu Song, S. Wahl (2012)
Tumor necrosis factor‐alpha (TNF‐α) is a therapeutic target for impaired cutaneous wound healingWound Repair and Regeneration, 20
Yongjing He, Z. Deng, M. Alghamdi, Lechun Lu, M. Fear, Li He (2017)
From genetics to epigenetics: new insights into keloid scarringCell Proliferation, 50
Hong Yan, Lei Bi, Yunshan Wang, Xia Zhang, Z. Hou, Qian Wang, A. Snijders, J. Mao (2017)
Integrative analysis of multi-omics data reveals distinct impacts of DDB1-CUL4 associated factors in human lung adenocarcinomasScientific Reports, 7
H. Sakurai, Maki Sawai, Yukio Ishikawa, Azumi Ota, E. Kawahara (2014)
Heat shock transcription factor HSF1 regulates the expression of the Huntingtin-interacting protein HYPK.Biochimica et biophysica acta, 1840 3
Nuria Cabrera-Benitez, E. Pérez-Roth, Á. Ramos-Nuez, Ithaisa Sologuren, J. Padrón, A. Slutsky, J. Villar (2016)
Inhibition of endotoxin-induced airway epithelial cell injury by a novel family of pyrrol derivatesLaboratory Investigation, 96
M. Mangino, L. Christiansen, Rivka Stone, S. Hunt, K. Horvath, D. Eisenberg, M. Kimura, Inge Petersen, J. Kark, U. Herbig, A. Reiner, A. Benetos, V. Codd, D. Nyholt, R. Sinnreich, K. Christensen, H. Nassar, Shih-Jen Hwang, D. Levy, V. Bataille, A. Fitzpatrick, Wei Chen, G. Berenson, N. Samani, N. Martin, S. Tishkoff, N. Schork, K. Kyvik, C. Dalgård, T. Spector, A. Aviv (2015)
DCAF4, a novel gene associated with leucocyte telomere lengthJournal of Medical Genetics, 52
D. Zheng, B. Gui, K. Gray, I. Tinay, S. Rafiei, Q. Huang, C. Sweeney, A. Kibel, L. Jia (2016)
Secretory leukocyte protease inhibitor is a survival and proliferation factor for castration-resistant prostate cancerOncogene, 35
K. Ardlie, D. DeLuca, A. Segrè, T. Sullivan, Taylor Young, Ellen Gelfand, Casandra Trowbridge, J. Maller, T. Tukiainen, M. Lek, L. Ward, P. Kheradpour, B. Iriarte, Y. Meng, Cameron Palmer, T. Esko, W. Winckler, J. Hirschhorn, Manolis Kellis, D. MacArthur, G. Getz, A. Shabalin, Gen Li, Yi‐Hui Zhou, A. Nobel, I. Rusyn, F. Wright, T. Lappalainen, Pedro Ferreira, H. Ongen, M. Rivas, A. Battle, S. Mostafavi, Jean Monlong, M. Sammeth, Marta Melé, F. Reverter, Jakob Goldmann, D. Koller, R. Guigó, M. McCarthy, E. Dermitzakis, E. Gamazon, H. Im, A. Konkashbaev, D. Nicolae, N. Cox, T. Flutre, X. Wen, M. Stephens, J. Pritchard, Zhidong Tu, Bin Zhang, Tao Huang, Q. Long, Luan Lin, Jialiang Yang, Jun Zhu, Jun Liu, A. Brown, B. Mestichelli, D. Tidwell, E. Lo, Mike Salvatore, Saboor Shad, Jeffrey Thomas, J. Lonsdale, M. Moser, Bryan Gillard, E. Karasik, K. Ramsey, Christopher Choi, B. Foster, John Syron, Johnelle Fleming, Harold Magazine, R. Hasz, Gary Walters, J. Bridge, Mark Miklos, Susan Sullivan, Laura Barker, H. Traino, M. Mosavel, L. Siminoff, Dana Valley, D. Rohrer, S. Jewell, P. Branton, L. Sobin, M. Barcus, L. Qi, J. McLean, P. Hariharan, K. Um, Shenpei Wu, D. Tabor, C. Shive, Anna Smith, Stephen Buia, Anita Undale, Karna Robinson, Nancy Roche, Kimberly Valentino, A. Britton, R. Burges, Debra Bradbury, Kenneth Hambright, John Seleski, G. Korzeniewski, Kenyon Erickson, Yvonne Marcus, J. Tejada, M. Taherian, Chunrong Lu, Margaret Basile, D. Mash, S. Volpi, J. Struewing, Gary Temple, Joy Boyer, Deborah Colantuoni, R. Little, S. Koester, Latarsha Carithers, Helen Moore, P. Guan, C. Compton, Sherilyn Sawyer, J. Demchok, J. Vaught, C. Rabiner, Lockhart (2015)
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humansScience, 348
J. Skrzeczynska-Moncznik, A. Wlodarczyk, Katarzyna Zabieglo, M. Kapinska-Mrowiecka, E. Marewicz, A. Dubin, J. Potempa, J. Cichy (2012)
Secretory Leukocyte Proteinase Inhibitor-Competent DNA Deposits Are Potent Stimulators of Plasmacytoid Dendritic Cells: Implication for PsoriasisThe Journal of Immunology, 189
R. Noorlag, P. Groep, F. Leusink, S. Hooff, Michaël Frank, S. Willems, R. Es (2015)
Nodal metastasis and survival in oral cancer: Association with protein expression of SLPI, not with LCN2, TACSTD2, or THBS2Head & Neck, 37
E. Cirulli (2016)
The Increasing Importance of Gene-Based AnalysesPLoS Genetics, 12
J. Wessel, Audrey Chu, Sara Willems, Shuai Wang, H. Yaghootkar, Jennifer Brody, M. Dauriz, M. Hivert, S. Raghavan, L. Lipovich, Bertha Hidalgo, Keolu Fox, J. Huffman, P. An, Yingchang Lu, L. Rasmussen-Torvik, N. Grarup, M. Ehm, Li Li, A. Baldridge, A. Stančáková, R. Abrol, C. Besse, A. Boland, J. Bork-Jensen, M. Fornage, Daniel Freitag, M. Garcia, Xiuqing Guo, Kazuo Hara, A. Isaacs, J. Jakobsdóttir, L. Lange, Jill Layton, Man Li, Jing Zhao, K. Meidtner, A. Morrison, M. Nalls, M. Peters, M. Sabater-Lleal, C. Schurmann, A. Silveira, A. Smith, L. Southam, Marcus Stoiber, R. Strawbridge, K. Taylor, T. Varga, K. Allin, N. Amin, J. Aponte, Tin Aung, C. Barbieri, Nathan Bihlmeyer, M. Boehnke, C. Bombieri, D. Bowden, S. Burns, Yuning Chen, Yii-DerI Chen, Ching-Yu Cheng, A. Correa, Jacek Czajkowski, A. Dehghan, G. Ehret, G. Eiriksdottir, S. Escher, Aliki-Eleni Farmaki, Mattias Frånberg, G. Gambaro, Franco Giulianini, W. Goddard, A. Goel, O. Gottesman, M. Grove, S. Gustafsson, Y. Hai, G. Hallmans, Jiyoung Heo, P. Hoffmann, M. Ikram, R. Jensen, M. Jørgensen, T. Jørgensen, Maria Karaleftheri, C. Khor, A. Kirkpatrick, A. Kraja, J. Kuusisto, E. Lange, I. Lee, Wen-Jane Lee, A. Leong, Jiemin Liao, Chunyu Liu, Yongmei Liu, C. Lindgren, A. Linneberg, G. Malerba, Vasiliki Mamakou, E. Marouli, N. Maruthur, Angela Matchan, R. Mckean-Cowdin, O. Mcleod, G. Metcalf, K. Mohlke, D. Muzny, I. Ntalla, Nicholette Palmer, D. Pasko, A. Peter, N. Rayner, F. Renström, K. Rice, C. Sala, B. Sennblad, Ioannis Serafetinidis, Jennifer Smith, N. Soranzo, Elizabeth Speliotes, E. Stahl, K. Stirrups, N. Tentolouris, A. Thanopoulou, M. Torres, Michela Traglia, E. Tsafantakis, Sundas Javad, L. Yanek, Eleni Zengini, D. Becker, J. Bis, James Brown, L. Cupples, T. Hansen, E. Ingelsson, A. Karter, C. Lorenzo, R. Mathias, J. Norris, G. Peloso, W. Sheu, D. Toniolo, Dhananjay Vaidya, R. Varma, L. Wagenknecht, H. Boeing, E. Bottinger, G. Dedoussis, P. Deloukas, E. Ferrannini, O. Franco, P. Franks, R. Gibbs, V. Gudnason, A. Hamsten, T. Harris, A. Hattersley, C. Hayward, A. Hofman, J. Jansson, C. Langenberg, L. Launer, D. Levy, B. Oostra, C. O’Donnell, S. O’Rahilly, S. Padmanabhan, J. Pankow, O. Polašek, M. Province, S. Rich, P. Ridker, I. Rudan, M. Schulze, Blair Smith, A. Uitterlinden, M. Walker, H. Watkins, T. Wong, E. Zeggini, Stephen McCa, S. Sharp, N. Forouhi, N. Kerrison, D. Lucarelli, M. Sims, I. Barroso, M. McCarthy, L. Arrióla, B. Balkau, A. Barricarte, C. González, S. Grioni, R. Kaaks, T. Key, C. Navarro, P. Nilsson, K. Overvad, D. Palli, S. Panico, J. Quirós, O. Rolandsson, C. Sacerdote, María-José Sánchez, N. Slimani, A. Tjønneland, R. Tumino, D. A, Y. Schouw, E. Riboli, M. Laakso, I. Borecki, D. Chasman, O. Pedersen, B. Psaty, E. Tai, C. Duijn, N. Wareham, D. Waterworth, E. Boerwinkle, W. Kao, J. Florez, R. Loos, James Wilson, T. Frayling, D. Siscovick, J. Dupuis, J. Rotter, J. Meigs, R. Scott, M. Goodarzi (2015)
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibilityNature Communications, 6
(2015)
Human genomics. The Genotype‐Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans, 348
(2016)
Exome sequencing identifies rare LDLR and APOA 5 alleles conferring risk for myocardial infarction
J. Timms, Elif Arslan-Low, M. Kabir, J. Worthington, S. Camuzeaux, J. Sinclair, Joanna Szaub, B. Afrough, V. Podust, Evangelia‐Ourania Fourkala, M. Cubizolles, F. Kronenberg, E. Fung, A. Gentry-Maharaj, U. Menon, I. Jacobs (2014)
Discovery of serum biomarkers of ovarian cancer using complementary proteomic profiling strategiesProteomics. Clinical Applications, 8
C. Lancto, S. Torres, J. Hendrickson, Kyra Martins, M. Rutherford (2013)
Altered expression of antimicrobial peptide genes in the skin of dogs with atopic dermatitis and other inflammatory skin conditions.Veterinary dermatology, 24 4
J. Polson, C. Pattee, F. Woolhouse (2020)
Keloid.Canadian Medical Association journal, 65 5
P. Chevray, P. Manson (2004)
Keloid Scars Are Formed by Polyclonal FibroblastsAnnals of Plastic Surgery, 52
J. Barrett (1973)
Birth Defect Compendium
S. Ud-Din, S. Ud-Din, A. Bayat, A. Bayat (2013)
Strategic management of keloid disease in ethnic skin: a structured approach supported by the emerging literatureBritish Journal of Dermatology, 169
Joan Smith, B. Boone, S. Opalenik, Scott Williams, S. Russell (2008)
Gene profiling of keloid fibroblasts shows altered expression in multiple fibrosis-associated pathways.The Journal of investigative dermatology, 128 5
C. Nievergelt, N. Wineinger, Ondrej Libiger, Phillip Pham, Guangfa Zhang, D. Baker, N. Schork (2014)
Chip-based direct genotyping of coding variants in genome wide association studies: utility, issues and prospects.Gene, 540 1
J. Huyghe, A. Jackson, M. Fogarty, Martin Buchkovich, A. Stančáková, H. Stringham, X. Sim, Lingyao Yang, C. Fuchsberger, H. Cederberg, P. Chines, Tanya Teslovich, Jane Romm, H. Ling, Ivy McMullen, R. Ingersoll, E. Pugh, K. Doheny, B. Neale, M. Daly, J. Kuusisto, L. Scott, H. Kang, F. Collins, G. Abecasis, R. Watanabe, M. Boehnke, M. Laakso, K. Mohlke (2012)
Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretionNature Genetics, 45
J. Hentschel, N. Fischer, W. Janhsen, U. Markert, T. Lehmann, J. Sonnemann, Klas Böer, W. Pfister, U. Hipler, J. Mainz (2015)
Protease-antiprotease imbalances differ between Cystic Fibrosis patients' upper and lower airway secretions.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society, 14 3
G. Kempermann (2015)
Faculty Opinions recommendation of Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans.
F. Zhu, Baoyu Wu, Ping Li, Jianbo Wang, Huayang Tang, Ye Liu, X. Zuo, Hui Cheng, Yantao Ding, Wen Wang, Yujuan Zhai, Fangfang Qian, Wenjun Wang, Xiangfeng Yuan, Jing Wang, Wei-Wei Ha, Jun-Fang Hou, F. Zhou, Yin Wang, Jinping Gao, Y. Sheng, Liangdan Sun, Jianjun Liu, Sen Yang, Xuejun Zhang (2013)
Association Study Confirmed Susceptibility Loci with Keloid in the Chinese Han PopulationPLoS ONE, 8
R. Do, N. Stitziel, H. Won, A. Jørgensen, S. Duga, P. Merlini, Adam Kiezun, M. Farrall, A. Goel, O. Zuk, Illaria Guella, R. Asselta, L. Lange, G. Peloso, P. Auer, D. Girelli, N. Martinelli, Deborah Farlow, M. DePristo, R. Roberts, A. Stewart, D. Saleheen, J. Danesh, S. Epstein, S. Sivapalaratnam, G. Hovingh, J. Kastelein, N. Samani, H. Schunkert, J. Erdmann, Svati Shah, W. Kraus, R. Davies, M. Nikpay, C. Johansen, Jian Wang, R. Hegele, Eliana Hechter, W. Marz, M. Kleber, Jie Huang, Andrew Johnson, Mingyao Li, G. Burke, M. Gross, Yongmei Liu, T. Assimes, G. Heiss, E. Lange, A. Folsom, H. Taylor, O. Olivieri, A. Hamsten, R. Clarke, Dermot Reilly, Wu Yin, M. Rivas, P. Donnelly, J. Rossouw, B. Psaty, D. Herrington, James Wilson, S. Rich, M. Bamshad, R. Tracy, L. Cupples, D. Rader, M. Reilly, J. Spertus, S. Cresci, J. Hartiala, W. Tang, S. Hazen, H. Allayee, A. Reiner, C. Carlson, C. Kooperberg, R. Jackson, E. Boerwinkle, E. Lander, S. Schwartz, D. Siscovick, R. McPherson, A. Tybjaerg-hansen, G. Abecasis, H. Watkins, D. Nickerson, D. Ardissino, S. Sunyaev, C. O’Donnell, D. Altshuler, S. Gabriel, S. Kathiresan (2014)
Multiple rare alleles at LDLR and APOA5 confer risk for early-onset myocardial infarctionNature, 518
M. Schäfer, Ann-Helen Willrodt, S. Kurinna, Andrea Link, Hany Farwanah, A. Geusau, F. Gruber, O. Sorg, A. Huebner, D. Roop, K. Sandhoff, J. Saurat, E. Tschachler, M. Schneider, L. Langbein, W. Bloch, H. Beer, S. Werner (2014)
Activation of Nrf2 in keratinocytes causes chloracne (MADISH)-like skin disease in miceEMBO Molecular Medicine, 6
S. Nair, G. Saed, H. Atta, V. Rajaratnam, M. Diamond, D. Curiel, A. Al-Hendy (2013)
Towards Gene Therapy of Postoperative Adhesions: Fiber and Transcriptional Modifications Enhance Adenovirus Targeting towards Human Adhesion CellsGynecologic and Obstetric Investigation, 76
Xin Yan, Jian-hua Gao, Yang Chen, Mei Song, Xiao-jun Liu (2007)
[Preliminary linkage analysis and mapping of keloid susceptibility locus in a Chinese pedigree].Zhonghua zheng xing wai ke za zhi = Zhonghua zhengxing waike zazhi = Chinese journal of plastic surgery, 23 1
Alexander Marneros, T. Krieg (2004)
Keloids – clinical diagnosis, pathogenesis, and treatment optionsJDDG: Journal der Deutschen Dermatologischen Gesellschaft, 2
Ghassan Saed, Daniel Ladin, J. Olson, Xuefei Han, Z. Hou, David Fivenson (1998)
Analysis of p53 gene mutations in keloids using polymerase chain reaction-based single-strand conformational polymorphism and DNA sequencing.Archives of dermatology, 134 8
Alexander Marneros, J. Norris, Shoji Watanabe, E. Reichenberger, B. Olsen (2004)
Genome scans provide evidence for keloid susceptibility loci on chromosomes 2q23 and 7p11.The Journal of investigative dermatology, 122 5
Y. Sumi, H. Muramatsu, K. Hata, Minoru Ueda, Takashi Muramatsu (2000)
Secretory leukocyte protease inhibitor is a novel inhibitor of fibroblast-mediated collagen gel contraction.Experimental cell research, 256 1
U. Meyer-Hoffert (2009)
Reddish, scaly, and itchy: how proteases and their inhibitors contribute to inflammatory skin diseasesArchivum Immunologiae et Therapiae Experimentalis, 57
Kamalika Choudhury, N. Bhattacharyya (2015)
Chaperone protein HYPK interacts with the first 17 amino acid region of Huntingtin and modulates mutant HTT-mediated aggregation and cytotoxicity.Biochemical and biophysical research communications, 456 1
(2014)
Secretory Leukocyte Protease Inhibitor (SLPI) expression downregulates E-cadherin, induces beta-catenin re-localisation and triggers apoptosis-related events in breast cancer cells
D. Edwards, K. Tsosie, Scott Williams, T. Edwards, S. Russell (2014)
Admixture mapping identifies a locus at 15q21.2–22.3 associated with keloid formation in African AmericansHuman Genetics, 133
E. Gamazon, H. Wheeler, Kaanan Shah, S. Mozaffari, K. Aquino-Michaels, R. Carroll, A. Eyler, J. Denny, D. Nicolae, N. Cox, H. Im (2015)
A gene-based association method for mapping traits using reference transcriptome dataNature genetics, 47
N. Aozasa, Y. Asano, K. Akamata, S. Noda, Y. Masui, Z. Tamaki, Y. Tada, M. Sugaya, T. Kadono, S. Sato (2012)
Clinical significance of serum levels of secretory leukocyte protease inhibitor in patients with systemic sclerosisModern Rheumatology, 22
Hongliang Liu, Zhensheng Liu, Yanru Wang, T. Stinchcombe, K. Owzar, Younghun Han, R. Hung, Y. Brhane, J. McLaughlin, P. Brennan, H. Bickeböller, A. Rosenberger, R. Houlston, N. Caporaso, M. Landi, I. Brüske, A. Risch, Xifeng Wu, Y. Ye, D. Christiani, C. Amos, Q. Wei (2017)
Functional variants in DCAF4 associated with lung cancer risk in European populationsCarcinogenesis, 38
Jason Brown, W. Ollier, G. Arscott, X. Ke, J. Lamb, P. Day, A. Bayat (2008)
Genetic susceptibility to Keloid scarring: SMAD gene SNP frequencies in Afro‐CaribbeansExperimental Dermatology, 17
M. Bando, Yuka Hiroshima, M. Kataoka, Y. Shinohara, M. Herzberg, Karen Ross, T. Nagata, J. Kido (2007)
Interleukin‐1α regulates antimicrobial peptide expression in human keratinocytesImmunology and Cell Biology, 85
A. Halim, A. Emami, I. Salahshourifar, T. Kannan (2012)
Keloid Scarring: Understanding the Genetic Basis, Advances, and ProspectsArchives of Plastic Surgery, 39
M. Nakashima, Suyoun Chung, A. Takahashi, N. Kamatani, T. Kawaguchi, T. Tsunoda, N. Hosono, M. Kubo, Yusuke Nakamura, H. Zembutsu (2010)
A genome-wide association study identifies four susceptibility loci for keloid in the Japanese populationNature Genetics, 42
D. Ladin, Z. Hou, Dipanki Patel, Monica McPhail, J. Olson, G. Saed, D. Fivenson (1998)
p53 and apoptosis alterations in keloids and keloid fibroblastsWound Repair and Regeneration, 6
W. Thijs, K. Janssen, A. Schadewijk, S. Papapoulos, S. Cessie, S. Middeldorp, C. Melissant, K. Rabe, P. Hiemstra (2015)
Nasal Levels of Antimicrobial Peptides in Allergic Asthma Patients and Healthy Controls: Differences and Effect of a Short 1,25(OH)2 Vitamin D3 TreatmentPLoS ONE, 10
A. Barbeira, Scott Dickinson, Jason Torres, E. Torstenson, Jiamao Zheng, H. Wheeler, Kaanan Shah, T. Edwards, Gtex Consortium, D. Nicolae, N. Cox, H. Im
Integrating Tissue Specific Mechanisms into Gwas Summary Results
Yang Chen, Jian-hua Gao, Xin Yan, Mei Song, Xiao-jun Liu (2007)
[Location of predisposing gene for one Han Chinese keloid pedigree].Zhonghua zheng xing wai ke za zhi = Zhonghua zhengxing waike zazhi = Chinese journal of plastic surgery, 23 2
Keloids are benign dermal tumors occurring approximately 20 times more often in individuals of African descent as compared to individuals of European descent. While most keloids occur sporadically, a genetic predisposition is supported by both familial aggregation of some keloids and large differences in risk among populations. Despite Africans and African Americans being at increased risk over lighter‐skinned individuals, little genetic research exists into this phenotype. Using a combination of admixture mapping and exome analysis, we reported multiple common variants within chr15q21.2‐22.3 associated with risk of keloid formation in African Americans. Here we describe a gene‐based association analysis using 478 African American samples with exome genotyping data to identify genes containing low‐frequency variants associated with keloids, with evaluation of genetically‐predicted gene expression in skin tissues using association summary statistics. The strongest signal from gene‐based association was located in C15orf63 (P‐value = 6.6 × 10−6) located at 15q15.3. The top result from gene expression was increased predicted DCAF4 expression (P‐value = 5.5 × 10−4) in non–sun‐exposed skin, followed by increased predicted OR10A3 expression in sun‐exposed skin (P‐value = 6.9 × 10−4). Our findings identify variation with putative roles in keloid formation, enhanced by the use of predicted gene expression to support the biological roles of variation identified only though genetic association studies.
Annals of Human Genetics – Wiley
Published: Jan 1, 2018
Keywords: ; ; ; ;
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