Screening of high-risk deleterious missense variations in the CYP1B1 gene implicated in the pathogenesis of primary congenital glaucoma: A comprehensive in silico approach.
Peerj
Shahid, Muhammad M; Azfaralariff, Ahmad A; Tufail, Muhammad M; Hussain Khan, Nazeer N; Abdulkareem Najm, Ahmed A; Firasat, Sabika S; Zubair, Muhammad M; Fazry, Shazrul S; Law, Douglas D
Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes.
Translational Vision Science & Technology
Lang, Elena E; Koller, Samuel S; Bähr, Luzy L; Töteberg-Harms, Marc M; Atac, David D; Roulez, Françoise F; Bahr, Angela A; Steindl, Katharina K; Feil, Silke S; Berger, Wolfgang W; Gerth-Kahlert, Christina C
A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness.
Communications Biology
Choquet, Hélène H; Melles, Ronald B RB; Yin, Jie J; Hoffmann, Thomas J TJ; Thai, Khanh K KK; Kvale, Mark N MN; Banda, Yambazi Y; Hardcastle, Alison J AJ; Tuft, Stephen J SJ; Glymour, M Maria MM; Schaefer, Catherine C; Risch, Neil N; Nair, K Saidas KS; Hysi, Pirro G PG; Jorgenson, Eric E
Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.
Nature Genetics
Landi, Maria Teresa MT; Bishop, D Timothy DT; MacGregor, Stuart S; Machiela, Mitchell J MJ; Stratigos, Alexander J AJ; Ghiorzo, Paola P; Brossard, Myriam M; Calista, Donato D; Choi, Jiyeon J; Fargnoli, Maria Concetta MC; Zhang, Tongwu T; Rodolfo, Monica M; Trower, Adam J AJ; Menin, Chiara C; Martinez, Jacobo J; Hadjisavvas, Andreas A; Song, Lei L; Stefanaki, Irene I; Scolyer, Richard R; Yang, Rose R; Goldstein, Alisa M AM; Potrony, Miriam M; Kypreou, Katerina P KP; Pastorino, Lorenza L; Queirolo, Paola P; Pellegrini, Cristina C; Cattaneo, Laura L; Zawistowski, Matthew M; Gimenez-Xavier, Pol P; Rodriguez, Arantxa A; Elefanti, Lisa L; Manoukian, Siranoush S; Rivoltini, Licia L; Smith, Blair H BH; Loizidou, Maria A MA; Del Regno, Laura L; Massi, Daniela D; Mandala, Mario M; Khosrotehrani, Kiarash K; Akslen, Lars A LA; Amos, Christopher I CI; Andresen, Per A PA; Avril, Marie-Françoise MF; Azizi, Esther E; Soyer, H Peter HP; Bataille, Veronique V; Dalmasso, Bruna B; Bowdler, Lisa M LM; Burdon, Kathryn P KP; Chen, Wei V WV; Codd, Veryan V; Craig, Jamie E JE; Dębniak, Tadeusz T; Falchi, Mario M; Fang, Shenying S; Friedman, Eitan E; Simi, Sarah S; Galan, Pilar P; Garcia-Casado, Zaida Z; Gillanders, Elizabeth M EM; Gordon, Scott S; Green, Adele A; Gruis, Nelleke A NA; Hansson, Johan J; Harland, Mark M; Harris, Jessica J; Helsing, Per P; Henders, Anjali A; Hočevar, Marko M; Höiom, Veronica V; Hunter, David D; Ingvar, Christian C; Kumar, Rajiv R; Lang, Julie J; Lathrop, G Mark GM; Lee, Jeffrey E JE; Li, Xin X; Lubiński, Jan J; Mackie, Rona M RM; Malt, Maryrose M; Malvehy, Josep J; McAloney, Kerrie K; Mohamdi, Hamida H; Molven, Anders A; Moses, Eric K EK; Neale, Rachel E RE; Novaković, Srdjan S; Nyholt, Dale R DR; Olsson, Håkan H; Orr, Nicholas N; Fritsche, Lars G LG; Puig-Butille, Joan Anton JA; Qureshi, Abrar A AA; Radford-Smith, Graham L GL; Randerson-Moor, Juliette J; Requena, Celia C; Rowe, Casey C; Samani, Nilesh J NJ; Sanna, Marianna M; Schadendorf, Dirk D; Schulze, Hans-Joachim HJ; Simms, Lisa A LA; Smithers, Mark M; Song, Fengju F; Swerdlow, Anthony J AJ; van der Stoep, Nienke N; Kukutsch, Nicole A NA; Visconti, Alessia A; Wallace, Leanne L; Ward, Sarah V SV; Wheeler, Lawrie L; Sturm, Richard A RA; Hutchinson, Amy A; Jones, Kristine K; Malasky, Michael M; Vogt, Aurelie A; Zhou, Weiyin W; Pooley, Karen A KA; Elder, David E DE; Han, Jiali J; Hicks, Belynda B; Hayward, Nicholas K NK; Kanetsky, Peter A PA; Brummett, Chad C; Montgomery, Grant W GW; Olsen, Catherine M CM; Hayward, Caroline C; Dunning, Alison M AM; Martin, Nicholas G NG; Evangelou, Evangelos E; Mann, Graham J GJ; Long, Georgina G; Pharoah, Paul D P PDP; Easton, Douglas F DF; Barrett, Jennifer H JH; Cust, Anne E AE; Abecasis, Goncalo G; Duffy, David L DL; Whiteman, David C DC; Gogas, Helen H; De Nicolo, Arcangela A; Tucker, Margaret A MA; Newton-Bishop, Julia A JA; , ; , ; , ; , ; , ; , ; , ; , ; , ; Peris, Ketty K; Chanock, Stephen J SJ; Demenais, Florence F; Brown, Kevin M KM; Puig, Susana S; Nagore, Eduardo E; Shi, Jianxin J; Iles, Mark M MM; Law, Matthew H MH
Steroid hormone-related polymorphisms associate with the development of bone erosions in rheumatoid arthritis and help to predict disease progression: Results from the REPAIR consortium.
Scientific Reports
Sánchez-Maldonado, Jose M JM; Cáliz, Rafael R; Canet, Luz L; Horst, Rob Ter RT; Bakker, Olivier O; den Broeder, Alfons A AA; Martínez-Bueno, Manuel M; Canhão, Helena H; Rodríguez-Ramos, Ana A; Lupiañez, Carmen B CB; Soto-Pino, María José MJ; García, Antonio A; Pérez-Pampin, Eva E; González-Utrilla, Alfonso A; Escudero, Alejandro A; Segura-Catena, Juana J; Netea-Maier, Romana T RT; Ferrer, Miguel Ángel MÁ; Collantes-Estevez, Eduardo E; López Nevot, Miguel Ángel MÁ; Li, Yang Y; Jurado, Manuel M; Fonseca, João E JE; Netea, Mihai G MG; Coenen, Marieke J H MJH; Sainz, Juan J
Publication Date: 2019-10-15
Variant appearance in text: CYP1B1: N453T; rs1800440
Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
Human Molecular Genetics
Liyanage, Upekha E UE; Law, Matthew H MH; Han, Xikun X; An, Jiyuan J; Ong, Jue-Sheng JS; Gharahkhani, Puya P; Gordon, Scott S; Neale, Rachel E RE; Olsen, Catherine M CM; , ; MacGregor, Stuart S; Whiteman, David C DC
Associations between polymorphisms in genes related to estrogen metabolism and function and prostate cancer risk: results from the Prostate Cancer Prevention Trial.
Carcinogenesis
Tang, Li L; Platek, Mary E ME; Yao, Song S; Till, Cathee C; Goodman, Phyllis J PJ; Tangen, Catherine M CM; Wu, Yue Y; Platz, Elizabeth A EA; Neuhouser, Marian L ML; Stanczyk, Frank Z FZ; Reichardt, Juergen K V JKV; Santella, Regina M RM; Hsing, Ann A; Figg, William D WD; Lippman, Scott M SM; Thompson, Ian M IM; Ambrosone, Christine B CB
Pharmacogenomic Variability of Oral Baclofen Clearance and Clinical Response in Children With Cerebral Palsy.
Pm & R : The Journal Of Injury, Function, And Rehabilitation
McLaughlin, Matthew J MJ; He, Yang Y; Brunstrom-Hernandez, Janice J; Thio, Liu Lin LL; Carleton, Bruce C BC; Ross, Colin J D CJD; Gaedigk, Andrea A; Lewandowski, Andrew A; Dai, Hongying H; Jusko, William J WJ; Leeder, J Steven JS
Genetic polymorphisms of phase I metabolizing enzyme genes, their interaction with lifetime grilled and smoked meat intake, and breast cancer incidence.
Annals Of Epidemiology
Parada, Humberto H; Steck, Susan E SE; Cleveland, Rebecca J RJ; Teitelbaum, Susan L SL; Neugut, Alfred I AI; Santella, Regina M RM; Gammon, Marilie D MD
Association of androgen metabolism gene polymorphisms with prostate cancer risk and androgen concentrations: Results from the Prostate Cancer Prevention Trial.
Cancer
Price, Douglas K DK; Chau, Cindy H CH; Till, Cathee C; Goodman, Phyllis J PJ; Leach, Robin J RJ; Johnson-Pais, Teresa L TL; Hsing, Ann W AW; Hoque, Ashraful A; Parnes, Howard L HL; Schenk, Jeannette M JM; Tangen, Catherine M CM; Thompson, Ian M IM; Reichardt, Juergen K V JK; Figg, William D WD
Oestradiol metabolism and androgen receptor genotypes are associated with right ventricular function.
The European Respiratory Journal
Ventetuolo, Corey E CE; Mitra, Nandita N; Wan, Fei F; Manichaikul, Ani A; Barr, R Graham RG; Johnson, Craig C; Bluemke, David A DA; Lima, Joao A C JA; Tandri, Hari H; Ouyang, Pamela P; Kawut, Steven M SM
Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil.
Plos One
de Melo, Mônica Barbosa MB; Mandal, Anil K AK; Tavares, Ivan M IM; Ali, Mohammed Hasnat MH; Kabra, Meha M; de Vasconcellos, José Paulo Cabral JP; Senthil, Sirisha S; Sallum, Juliana M F JM; Kaur, Inderjeet I; Betinjane, Alberto J AJ; Moura, Christiane R CR; Paula, Jayter S JS; Costa, Karita A KA; Sarfarazi, Mansoor M; Paolera, Mauricio Della MD; Finzi, Simone S; Ferraz, Victor E F VE; Costa, Vital P VP; Belfort, Rubens R; Chakrabarti, Subhabrata S
The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.
Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N
Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: novel variants and genotype-phenotype correlations.
Molecular Vision
Sheikh, Shakeel Ahmed SA; Waryah, Ali Muhammad AM; Narsani, Ashok Kumar AK; Shaikh, Hina H; Gilal, Imtiaz Ahmed IA; Shah, Khairuddin K; Qasim, Muhammad M; Memon, Azam Iqbal AI; Kewalramani, Pitambar P; Shaikh, Naila N
Genetic variation in the CYP1A1 gene is related to circulating PCB118 levels in a population-based sample.
Environmental Research
Lind, Lars L; Penell, Johanna J; Syvänen, Anne-Christine AC; Axelsson, Tomas T; Ingelsson, Erik E; Morris, Andrew P AP; Lindgren, Cecilia C; Salihovic, Samira S; van Bavel, Bert B; Lind, P Monica PM
Meta-analysis of loci associated with age at natural menopause in African-American women.
Human Molecular Genetics
Chen, Christina T L CT; Liu, Ching-Ti CT; Chen, Gary K GK; Andrews, Jeanette S JS; Arnold, Alice M AM; Dreyfus, Jill J; Franceschini, Nora N; Garcia, Melissa E ME; Kerr, Kathleen F KF; Li, Guo G; Lohman, Kurt K KK; Musani, Solomon K SK; Nalls, Michael A MA; Raffel, Leslie J LJ; Smith, Jennifer J; Ambrosone, Christine B CB; Bandera, Elisa V EV; Bernstein, Leslie L; Britton, Angela A; Brzyski, Robert G RG; Cappola, Anne A; Carlson, Christopher S CS; Couper, David D; Deming, Sandra L SL; Goodarzi, Mark O MO; Heiss, Gerardo G; John, Esther M EM; Lu, Xiaoning X; Le Marchand, Loic L; Marciante, Kristin K; Mcknight, Barbara B; Millikan, Robert R; Nock, Nora L NL; Olshan, Andrew F AF; Press, Michael F MF; Vaiyda, Dhananjay D; Woods, Nancy F NF; Taylor, Herman A HA; Zhao, Wei W; Zheng, Wei W; Evans, Michele K MK; Harris, Tamara B TB; Henderson, Brian E BE; Kardia, Sharon L R SL; Kooperberg, Charles C; Liu, Yongmei Y; Mosley, Thomas H TH; Psaty, Bruce B; Wellons, Melissa M; Windham, Beverly G BG; Zonderman, Alan B AB; Cupples, L Adrienne LA; Demerath, Ellen W EW; Haiman, Christopher C; Murabito, Joanne M JM; Rajkovic, Aleksandar A
Cigarettes, genetic background, and menopausal timing: the presence of single nucleotide polymorphisms in cytochrome P450 genes is associated with increased risk of natural menopause in European-American smokers.
Menopause (New York, N.Y.)
Butts, Samantha F SF; Sammel, Mary D MD; Greer, Christine C; Rebbeck, Timothy R TR; Boorman, David W DW; Freeman, Ellen W EW
Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
International Journal Of Cancer
Etemadi, Arash A; Islami, Farhad F; Phillips, David H DH; Godschalk, Roger R; Golozar, Asieh A; Kamangar, Farin F; Malekshah, Akbar Fazel-Tabar AF; Pourshams, Akram A; Elahi, Seerat S; Ghojaghi, Farhad F; Strickland, Paul T PT; Taylor, Philip R PR; Boffetta, Paolo P; Abnet, Christian C CC; Dawsey, Sanford M SM; Malekzadeh, Reza R; van Schooten, Frederik J FJ
Concordance of DMET plus genotyping results with those of orthogonal genotyping methods.
Clinical Pharmacology And Therapeutics
Fernandez, C A CA; Smith, C C; Yang, W W; Lorier, R R; Crews, K R KR; Kornegay, N N; Hicks, J K JK; Stewart, C F CF; Kawedia, J D JD; Ramsey, L B LB; Liu, C C; Evans, W E WE; Relling, M V MV; Broeckel, U U
Exposure to Polycyclic Aromatic Hydrocarbons Among Never Smokers in Golestan Province, Iran, an Area of High Incidence of Esophageal Cancer - a Cross-Sectional Study with Repeated Measurement of Urinary 1-OHPG in Two Seasons.
Frontiers In Oncology
Islami, Farhad F; Boffetta, Paolo P; van Schooten, Frederik J FJ; Strickland, Paul P; Phillips, David H DH; Pourshams, Akram A; Fazel-Tabar Malekshah, Akbar A; Godschalk, Roger R; Jafari, Elham E; Etemadi, Arash A; Abubaker, Salahadin S; Kamangar, Farin F; Straif, Kurt K; Møller, Henrik H; Schüz, Joachim J; Malekzadeh, Reza R
Renal cancer risk and occupational exposure to polycyclic aromatic hydrocarbons and plastics.
Journal Of Occupational And Environmental Medicine
Karami, Sara S; Boffetta, Paolo P; Brennan, Paul P; Stewart, Patricia A PA; Zaridze, David D; Matveev, Vsevolod V; Janout, Vladimir V; Kollarova, Helena H; Bencko, Vladimir V; Navratilova, Marie M; Szeszenia-Dabrowska, Neonila N; Mates, Dana D; Gromiec, Jan P JP; Sobotka, Roman R; Chow, Wong-Ho WH; Rothman, Nathaniel N; Moore, Lee E LE
A large-scale candidate gene association study of age at menarche and age at natural menopause.
Human Genetics
He, Chunyan C; Kraft, Peter P; Chasman, Daniel I DI; Buring, Julie E JE; Chen, Constance C; Hankinson, Susan E SE; Paré, Guillaume G; Chanock, Stephen S; Ridker, Paul M PM; Hunter, David J DJ
Effect of hormone metabolism genotypes on steroid hormone levels and menopausal symptoms in a prospective population-based cohort of women experiencing the menopausal transition.
Menopause (New York, N.Y.)
Rebbeck, Timothy R TR; Su, H Irene HI; Sammel, Mary D MD; Lin, Hui H; Tran, Teo V TV; Gracia, Clarisa R CR; Freeman, Ellen W EW
Dietary quercetin, quercetin-gene interaction, metabolic gene expression in lung tissue and lung cancer risk.
Carcinogenesis
Lam, Tram Kim TK; Rotunno, Melissa M; Lubin, Jay H JH; Wacholder, Sholom S; Consonni, Dario D; Pesatori, Angela C AC; Bertazzi, Pier Alberto PA; Chanock, Stephen J SJ; Burdette, Laurie L; Goldstein, Alisa M AM; Tucker, Margaret A MA; Caporaso, Neil E NE; Subar, Amy F AF; Landi, Maria Teresa MT
Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer.
Carcinogenesis
Freedman, Neal D ND; Ahn, Jiyoung J; Hou, Lifang L; Lissowska, Jolanta J; Zatonski, Witold W; Yeager, Meredith M; Chanock, Stephen J SJ; Chow, Wong Ho WH; Abnet, Christian C CC
Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Cotterchio, Michelle M; Boucher, Beatrice A BA; Manno, Michael M; Gallinger, Steven S; Okey, Allan B AB; Harper, Patricia A PA
Polymorphisms in genes involved in sex hormone metabolism, estrogen plus progestin hormone therapy use, and risk of postmenopausal breast cancer.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Diergaarde, Brenda B; Potter, John D JD; Jupe, Eldon R ER; Manjeshwar, Sharmila S; Shimasaki, Craig D CD; Pugh, Thomas W TW; Defreese, Daniele C DC; Gramling, Bobby A BA; Evans, Ilonka I; White, Emily E