Jing Zhou1,2, Congcong Chen1,3, Sijun Liu4, Wen Zhou1,3, Jiangbo Du1,5, Yue Jiang1,5, Juncheng Dai1,3,5, Guangfu Jin1,3,5, Hongxia Ma1,3,5, Zhibin Hu1,3,5, Jiaping Chen1,3, Hongbing Shen1,3,5. 1. Department of Epidemiology, International Joint Research Center on Environment and Human Health, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China. 2. Statistical Center, Information Department, Northern Jiangsu People's Hospital and Clinical Medical College of Yangzhou University, Yangzhou, China. 3. Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Medicine, Nanjing Medical University, Nanjing, China. 4. Department of Social Medicine and Health Education, School of Public Health, Nanjing Medical University, Nanjing, China. 5. State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.
Abstract
BACKGROUND: KIAA genes identified in the Kazusa cDNA-sequencing project may play important roles in biological processes and are involved in carcinogenesis of many cancers. Genetic variants of KIAA genes are implicated in the abnormal expression of these genes and are linked to susceptibility of several human complex diseases. METHODS: The differentially expressed KIAA genes were screened and identified in The Cancer Genome Atlas (TCGA) database of breast cancer. A total of 48 variants located in the 28 KIAA genes were selected to investigate the associations between polymorphism and breast cancer in 1,032 cases and 1,063 cancer-free controls in a Chinese population. RESULTS: Two coding variants, which included a SNP rs2306369 in KIAA1109 and a SNP rs1205434 in KIAA1755, were identified to be associated with the incidences of breast cancer. Logistic regression analysis showed that the SNP rs2306369 G allele was associated with a decreased risk of breast cancer (additive model: OR =0.81, 95% CI: 0.66-0.99, P=0.038), whereas the SNP rs1205434 A allele was involved with a higher risk of breast cancer (additive model: OR =1.19, 95% CI: 1.02-1.38, P= 0.025). Further stratified analysis revealed that the SNP rs1205434 showed a significant difference for age at menarche strata (heterogeneity test P=0.009). Multiplicative interaction analysis indicated that there was positive multiplicative interaction between the SNP rs1205434 and menarche age (OR =1.09, 95% CI: 1.01-1.17, P=0.036). Additionally, expression quantitative trait loci analysis revealed that the SNP rs1205434 A allele could decrease the KIAA1755 expression in the Genotype-Tissue Expression (GTEx) database (P=0.002). The Kaplan-Meier plotter showed that breast cancer patients with high KIAA1755 expression have significantly better outcomes than those with low levels of expression (HR =0.84, 95% CI: 0.72-0.99, P=0.033). CONCLUSIONS: The results indicate that the genetic variants (rs2306369 and rs1205434) in the coding region of KIAA1109 and KIAA1755 respectively may affect Chinese females' breast cancer susceptibility and act as potential predictive biomarkers for breast cancer. 2021 Annals of Translational Medicine. All rights reserved.
BACKGROUND: KIAA genes identified in the Kazusa cDNA-sequencing project may play important roles in biological processes and are involved in carcinogenesis of many cancers. Genetic variants of KIAA genes are implicated in the abnormal expression of these genes and are linked to susceptibility of several human complex diseases. METHODS: The differentially expressed KIAA genes were screened and identified in The Cancer Genome Atlas (TCGA) database of breast cancer. A total of 48 variants located in the 28 KIAA genes were selected to investigate the associations between polymorphism and breast cancer in 1,032 cases and 1,063 cancer-free controls in a Chinese population. RESULTS: Two coding variants, which included a SNP rs2306369 in KIAA1109 and a SNP rs1205434 in KIAA1755, were identified to be associated with the incidences of breast cancer. Logistic regression analysis showed that the SNP rs2306369 G allele was associated with a decreased risk of breast cancer (additive model: OR =0.81, 95% CI: 0.66-0.99, P=0.038), whereas the SNP rs1205434 A allele was involved with a higher risk of breast cancer (additive model: OR =1.19, 95% CI: 1.02-1.38, P= 0.025). Further stratified analysis revealed that the SNP rs1205434 showed a significant difference for age at menarche strata (heterogeneity test P=0.009). Multiplicative interaction analysis indicated that there was positive multiplicative interaction between the SNP rs1205434 and menarche age (OR =1.09, 95% CI: 1.01-1.17, P=0.036). Additionally, expression quantitative trait loci analysis revealed that the SNP rs1205434 A allele could decrease the KIAA1755 expression in the Genotype-Tissue Expression (GTEx) database (P=0.002). The Kaplan-Meier plotter showed that breast cancer patients with high KIAA1755 expression have significantly better outcomes than those with low levels of expression (HR =0.84, 95% CI: 0.72-0.99, P=0.033). CONCLUSIONS: The results indicate that the genetic variants (rs2306369 and rs1205434) in the coding region of KIAA1109 and KIAA1755 respectively may affect Chinese females' breast cancer susceptibility and act as potential predictive biomarkers for breast cancer. 2021 Annals of Translational Medicine. All rights reserved.
Entities:
Keywords:
KIAA; breast cancer; genetic variants; susceptibility
Authors: Jade E Hollis-Moffatt; Richard B Gearry; Murray L Barclay; Tony R Merriman; Rebecca L Roberts Journal: Am J Gastroenterol Date: 2010-05 Impact factor: 10.864
Authors: András Lánczky; Ádám Nagy; Giulia Bottai; Gyöngyi Munkácsy; András Szabó; Libero Santarpia; Balázs Győrffy Journal: Breast Cancer Res Treat Date: 2016-10-15 Impact factor: 4.872
Authors: Iona Cheng; Sarah J Plummer; Christine Neslund-Dudas; Eric A Klein; Graham Casey; Benjamin A Rybicki; John S Witte Journal: Cancer Epidemiol Biomarkers Prev Date: 2010-07-22 Impact factor: 4.254
Authors: E A M Festen; P Goyette; R Scott; V Annese; A Zhernakova; J Lian; C Lefèbvre; S R Brant; J H Cho; M S Silverberg; K D Taylor; D J de Jong; P C Stokkers; D Mcgovern; O Palmieri; J-P Achkar; R J Xavier; M J Daly; R H Duerr; C Wijmenga; R K Weersma; J D Rioux Journal: Gut Date: 2009-02-06 Impact factor: 23.059
Authors: Hugues Aschard; Jonathan Beesley; Laura Fachal; Daniel R Barnes; Jamie Allen; Siddhartha Kar; Karen A Pooley; Joe Dennis; Kyriaki Michailidou; Constance Turman; Penny Soucy; Audrey Lemaçon; Michael Lush; Jonathan P Tyrer; Maya Ghoussaini; Mahdi Moradi Marjaneh; Xia Jiang; Simona Agata; Kristiina Aittomäki; M Rosario Alonso; Irene L Andrulis; Hoda Anton-Culver; Natalia N Antonenkova; Adalgeir Arason; Volker Arndt; Kristan J Aronson; Banu K Arun; Bernd Auber; Paul L Auer; Jacopo Azzollini; Judith Balmaña; Rosa B Barkardottir; Daniel Barrowdale; Alicia Beeghly-Fadiel; Javier Benitez; Marina Bermisheva; Katarzyna Białkowska; Amie M Blanco; Carl Blomqvist; William Blot; Natalia V Bogdanova; Stig E Bojesen; Manjeet K Bolla; Bernardo Bonanni; Ake Borg; Kristin Bosse; Hiltrud Brauch; Hermann Brenner; Ignacio Briceno; Ian W Brock; Angela Brooks-Wilson; Thomas Brüning; Barbara Burwinkel; Saundra S Buys; Qiuyin Cai; Trinidad Caldés; Maria A Caligo; Nicola J Camp; Ian Campbell; Federico Canzian; Jason S Carroll; Brian D Carter; Jose E Castelao; Jocelyne Chiquette; Hans Christiansen; Wendy K Chung; Kathleen B M Claes; Christine L Clarke; J Margriet Collée; Sten Cornelissen; Fergus J Couch; Angela Cox; Simon S Cross; Cezary Cybulski; Kamila Czene; Mary B Daly; Miguel de la Hoya; Peter Devilee; Orland Diez; Yuan Chun Ding; Gillian S Dite; Susan M Domchek; Thilo Dörk; Isabel Dos-Santos-Silva; Arnaud Droit; Stéphane Dubois; Martine Dumont; Mercedes Duran; Lorraine Durcan; Miriam Dwek; Diana M Eccles; Christoph Engel; Mikael Eriksson; D Gareth Evans; Peter A Fasching; Olivia Fletcher; Giuseppe Floris; Henrik Flyger; Lenka Foretova; William D Foulkes; Eitan Friedman; Lin Fritschi; Debra Frost; Marike Gabrielson; Manuela Gago-Dominguez; Gaetana Gambino; Patricia A Ganz; Susan M Gapstur; Judy Garber; José A García-Sáenz; Mia M Gaudet; Vassilios Georgoulias; Graham G Giles; Gord Glendon; Andrew K Godwin; Mark S Goldberg; David E Goldgar; Anna González-Neira; Maria Grazia Tibiletti; Mark H Greene; Mervi Grip; Jacek Gronwald; Anne Grundy; Pascal Guénel; Eric Hahnen; Christopher A Haiman; Niclas Håkansson; Per Hall; Ute Hamann; Patricia A Harrington; Jaana M Hartikainen; Mikael Hartman; Wei He; Catherine S Healey; Bernadette A M Heemskerk-Gerritsen; Jane Heyworth; Peter Hillemanns; Frans B L Hogervorst; Antoinette Hollestelle; Maartje J Hooning; John L Hopper; Anthony Howell; Guanmengqian Huang; Peter J Hulick; Evgeny N Imyanitov; Claudine Isaacs; Motoki Iwasaki; Agnes Jager; Milena Jakimovska; Anna Jakubowska; Paul A James; Ramunas Janavicius; Rachel C Jankowitz; Esther M John; Nichola Johnson; Michael E Jones; Arja Jukkola-Vuorinen; Audrey Jung; Rudolf Kaaks; Daehee Kang; Pooja Middha Kapoor; Beth Y Karlan; Renske Keeman; Michael J Kerin; Elza Khusnutdinova; Johanna I Kiiski; Judy Kirk; Cari M Kitahara; Yon-Dschun Ko; Irene Konstantopoulou; Veli-Matti Kosma; Stella Koutros; Katerina Kubelka-Sabit; Ava Kwong; Kyriacos Kyriacou; Yael Laitman; Diether Lambrechts; Eunjung Lee; Goska Leslie; Jenny Lester; Fabienne Lesueur; Annika Lindblom; Wing-Yee Lo; Jirong Long; Artitaya Lophatananon; Jennifer T Loud; Jan Lubiński; Robert J MacInnis; Tom Maishman; Enes Makalic; Arto Mannermaa; Mehdi Manoochehri; Siranoush Manoukian; Sara Margolin; Maria Elena Martinez; Keitaro Matsuo; Tabea Maurer; Dimitrios Mavroudis; Rebecca Mayes; Lesley McGuffog; Catriona McLean; Noura Mebirouk; Alfons Meindl; Austin Miller; Nicola Miller; Marco Montagna; Fernando Moreno; Kenneth Muir; Anna Marie Mulligan; Victor M Muñoz-Garzon; Taru A Muranen; Steven A Narod; Rami Nassir; Katherine L Nathanson; Susan L Neuhausen; Heli Nevanlinna; Patrick Neven; Finn C Nielsen; Liene Nikitina-Zake; Aaron Norman; Kenneth Offit; Edith Olah; Olufunmilayo I Olopade; Håkan Olsson; Nick Orr; Ana Osorio; V Shane Pankratz; Janos Papp; Sue K Park; Tjoung-Won Park-Simon; Michael T Parsons; James Paul; Inge Sokilde Pedersen; Bernard Peissel; Beth Peshkin; Paolo Peterlongo; Julian Peto; Dijana Plaseska-Karanfilska; Karolina Prajzendanc; Ross Prentice; Nadege Presneau; Darya Prokofyeva; Miquel Angel Pujana; Katri Pylkäs; Paolo Radice; Susan J Ramus; Johanna Rantala; Rohini Rau-Murthy; Gad Rennert; Harvey A Risch; Mark Robson; Atocha Romero; Maria Rossing; Emmanouil Saloustros; Estela Sánchez-Herrero; Dale P Sandler; Marta Santamariña; Christobel Saunders; Elinor J Sawyer; Maren T Scheuner; Daniel F Schmidt; Rita K Schmutzler; Andreas Schneeweiss; Minouk J Schoemaker; Ben Schöttker; Peter Schürmann; Christopher Scott; Rodney J Scott; Leigha Senter; Caroline M Seynaeve; Mitul Shah; Priyanka Sharma; Chen-Yang Shen; Xiao-Ou Shu; Christian F Singer; Thomas P Slavin; Snezhana Smichkoska; Melissa C Southey; John J Spinelli; Amanda B Spurdle; Jennifer Stone; Dominique Stoppa-Lyonnet; Christian Sutter; Anthony J Swerdlow; Rulla M Tamimi; Yen Yen Tan; William J Tapper; Jack A Taylor; Manuel R Teixeira; Maria Tengström; Soo Hwang Teo; Mary Beth Terry; Alex Teulé; Mads Thomassen; Darcy L Thull; Marc Tischkowitz; Amanda E Toland; Rob A E M Tollenaar; Ian Tomlinson; Diana Torres; Gabriela Torres-Mejía; Melissa A Troester; Thérèse Truong; Nadine Tung; Maria Tzardi; Hans-Ulrich Ulmer; Celine M Vachon; Christi J van Asperen; Lizet E van der Kolk; Elizabeth J van Rensburg; Ana Vega; Alessandra Viel; Joseph Vijai; Maartje J Vogel; Qin Wang; Barbara Wappenschmidt; Clarice R Weinberg; Jeffrey N Weitzel; Camilla Wendt; Hans Wildiers; Robert Winqvist; Alicja Wolk; Anna H Wu; Drakoulis Yannoukakos; Yan Zhang; Wei Zheng; David Hunter; Paul D P Pharoah; Jenny Chang-Claude; Montserrat García-Closas; Marjanka K Schmidt; Roger L Milne; Vessela N Kristensen; Juliet D French; Stacey L Edwards; Antonis C Antoniou; Georgia Chenevix-Trench; Jacques Simard; Douglas F Easton; Peter Kraft; Alison M Dunning Journal: Nat Genet Date: 2020-01-07 Impact factor: 38.330