Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children With Asthma (2024)

1. Priyadarshini Kachroo
2. Julian Hecker
3. Bo L. Chawes
4. Tarunveer S. Ahluwalia
5. Michael H. Cho
6. Dandi Qiao
7. Rachel S. Kelly
8. Su H. Chu
9. Yamini V. Virkud
10. Mengna Huang
11. Kathleen C. Barnes
12. Esteban G. Burchard
13. Celeste Eng
14. Donglei Hu
15. Juan C. Celedón
16. Michelle Daya
17. Albert M. Levin
18. Hongsheng Gui
19. L. Keoki Williams
20. Erick Forno
21. Angel C.Y. Mak
22. Lydiana Avila
23. Manuel E. Soto-Quiros
24. Michelle M. Cloutier
25. Edna Acosta-Pérez
26. Glorisa Canino
27. Klaus Bønnelykke
28. Hans Bisgaard
29. Benjamin A. Raby
30. Christoph Lange
31. Scott T. Weiss
32. Jessica A. Lasky-Su
33. Namiko Abe
34. Goncalo Abecasis
35. Christine Albert
36. Nicholette (Nichole) Palmer Allred
37. Laura Almasy
38. Alvaro Alonso
39. Seth Ament
40. Peter Anderson
41. Pramod Anugu
42. Deborah Applebaum-Bowden
43. Dan Arking
44. Donna K. Arnett
45. Allison Ashley-Koch
46. Stella Aslibekyan
47. Tim Assimes
48. Paul Auer
49. Dimitrios Avramopoulos
50. John Barnard
51. Kathleen Barnes
52. R. Graham Barr
53. Emily Barron-Casella
54. Terri Beaty
55. Diane Becker
56. Lewis Becker
57. Rebecca Beer
58. Ferdouse Begum
59. Amber Beitelshees
60. Emelia Benjamin
61. Marcos Bezerra
62. Larry Bielak
63. Joshua Bis
64. Thomas Blackwell
65. John Blangero
66. Eric Boerwinkle
67. Ingrid Borecki
68. Russell Bowler
69. Jennifer Brody
70. Ulrich Broeckel
71. Jai Broome
72. Karen Bunting
73. Esteban Burchard
74. Jonathan Cardwell
75. Cara Carty
76. Richard Casaburi
77. James Casella
78. Mark Chaffin
79. Christy Chang
80. Daniel Chasman
81. Sameer Chavan
82. Bo-Juen Chen
83. Wei-Min Chen
84. Yii-Der Ida Chen
85. Michael H. Cho
86. Seung Hoan Choi
87. Lee-Ming Chuang
88. Mina Chung
89. Elaine Cornell
90. Adolfo Correa
91. Carolyn Crandall
92. James Crapo
93. L. Adrienne Cupples
94. Joanne Curran
95. Jeffrey Curtis
96. Brian Custer
97. Coleen Damcott
98. Dawood Darbar
99. Sayantan Das
100. Sean David
101. Colleen Davis
102. Michelle Daya
103. Mariza de Andrade
104. Michael DeBaun
105. Ranjan Deka
106. Dawn DeMeo
107. Scott Devine
108. Ron Do
109. Qing Duan
110. Ravi Duggirala
111. Peter Durda
112. Susan Dutcher
113. Charles Eaton
114. Lynette Ekunwe
115. Patrick Ellinor
116. Leslie Emery
117. Charles Farber
118. Leanna Farnam
119. Tasha Fingerlin
120. Matthew Flickinger
121. Myriam Fornage
122. Nora Franceschini
123. Mao Fu
124. Stephanie M. Fullerton
125. Lucinda Fulton
126. Stacey Gabriel
127. Weiniu Gan
128. Yan Gao
129. Margery Gass
130. Bruce Gelb
131. Xiaoqi (Priscilla) Geng
132. Soren Germer
133. Chris Gignoux
134. Mark Gladwin
135. David Glahn
136. Stephanie Gogarten
137. Da-Wei Gong
138. Harald Goring
139. C. Charles Gu
140. Yue Guan
141. Xiuqing Guo
142. Jeff Haessler
143. Michael Hall
144. Daniel Harris
145. Nicola Hawley
146. Jiang He
147. Ben Heavner
148. Susan Heckbert
149. Ryan Hernandez
150. David Herrington
151. Craig Hersh
152. Bertha Hidalgo
153. James Hixson
154. John Hokanson
155. Kramer Holly
156. Elliott Hong
157. Karin Hoth
158. Chao (Agnes) Hsiung
159. Haley Huston
160. Chii Min Hwu
161. Marguerite Ryan Irvin
162. Rebecca Jackson
163. Deepti Jain
164. Cashell Jaquish
165. Min A. Jhun
166. Jill Johnsen
167. Andrew Johnson
168. Craig Johnson
169. Rich Johnston
170. Kimberly Jones
171. Priyadarshini Kachroo
172. Hyun Min Kang
173. Robert Kaplan
174. Sharon Kardia
175. Sekar Kathiresan
176. Laura Kaufman
177. Shannon Kelly
178. Eimear Kenny
179. Michael Kessler
180. Alyna Khan
181. Greg Kinney
182. Barbara Konkle
183. Charles Kooperberg
184. Stephanie Krauter
185. Christoph Lange
186. Ethan Lange
187. Leslie Lange
188. Cathy Laurie
189. Cecelia Laurie
190. Meryl LeBoff
191. Seunggeun Shawn Lee
192. Wen-Jane Lee
193. Jonathon LeFaive
194. David Levine
195. Dan Levy
196. Joshua Lewis
197. Yun Li
198. Honghuang Lin
199. Keng Han Lin
200. Simin Liu
201. Yongmei Liu
202. Ruth Loos
203. Steven Lubitz
204. Kathryn Lunetta
205. James Luo
206. Michael Mahaney
207. Barry Make
208. Ani Manichaikul
209. JoAnn Manson
210. Lauren Margolin
211. Lisa Martin
212. Susan Mathai
213. Rasika Mathias
214. Patrick McArdle
215. Merry-Lynn McDonald
216. Sean McFarland
217. Stephen McGarvey
218. Hao Mei
219. Deborah A. Meyers
220. Julie Mikulla
221. Nancy Min
222. Mollie Minear
223. Ryan L. Minster
224. Braxton Mitchell
225. May E. Montasser
226. Solomon Musani
227. Stanford Mwasongwe
228. Josyf C. Mychaleckyj
229. Girish Nadkarni
230. Rakhi Naik
231. Pradeep Natarajan
232. Sergei Nekhai
233. Deborah Nickerson
234. Kari North
235. Jeff O'Connell
236. Tim O'Connor
237. Heather Ochs-Balcom
238. James Pankow
239. George Papanicolaou
240. Margaret Parker
241. Afshin Parsa
242. Sara Penchev
243. Juan Manuel Peralta
244. Marco Perez
245. James Perry
246. Ulrike Peters
247. Patricia Peyser
248. Lawrence S. Phillips
249. Sam Phillips
250. Toni Pollin
251. Wendy Post
252. Julia Powers Becker
253. Meher Preethi Boorgula
254. Michael Preuss
255. Dmitry Prokopenko
256. Bruce Psaty
257. Pankaj Qasba
258. Dandi Qiao
259. Zhaohui Qin
260. Nicholas Rafaels
261. Laura Raffield
262. Vasan Ramachandran
263. D.C. Rao
264. Laura Rasmussen-Torvik
265. Aakrosh Ratan
266. Susan Redline
267. Robert Reed
268. Elizabeth Regan
269. Alex Reiner
270. Ken Rice
271. Stephen Rich
272. Dan Roden
273. Carolina Roselli
274. Jerome Rotter
275. Ingo Ruczinski
276. Pamela Russell
277. Sarah Ruuska
278. Kathleen Ryan
279. Phuwanat Sakornsakolpat
280. Shabnam Salimi
281. Steven Salzberg
282. Kevin Sandow
283. Vijay Sankaran
284. Christopher Scheller
285. Ellen Schmidt
286. Karen Schwander
287. David Schwartz
288. Frank Sciurba
289. Christine Seidman
290. Jonathan Seidman
291. Vivien Sheehan
292. Amol Shetty
293. Aniket Shetty
294. Wayne Hui-Heng Sheu
295. M. Benjamin Shoemaker
296. Brian Silver
297. Edwin Silverman
298. Jennifer Smith
299. Josh Smith
300. Nicholas Smith
301. Tanja Smith
302. Sylvia Smoller
303. Beverly Snively
304. Tamar Sofer
305. Nona Sotoodehnia
306. Adrienne Stilp
307. Elizabeth Streeten
308. Yun Ju Sung
309. Jessica Su-Lasky
310. Jody Sylvia
311. Adam Szpiro
312. Carole Sztalryd
313. Daniel Taliun
314. Hua Tang
315. Margaret Taub
316. Kent Taylor
317. Simeon Taylor
318. Marilyn Telen
319. Timothy A. Thornton
320. Lesley Tinker
321. David Tirschwell
322. Hemant Tiwari
323. Russell Tracy
324. Michael Tsai
325. Dhananjay Vaidya
326. Peter VandeHaar
327. Scott Vrieze
328. Tarik Walker
329. Robert Wallace
330. Avram Walts
331. Emily Wan
332. Fei Fei Wang
333. Karol Watson
334. Daniel E. Weeks
335. Bruce Weir
336. Scott Weiss
337. Lu-Chen Weng
338. Cristen Willer
339. Kayleen Williams
340. L. Keoki Williams
341. Carla Wilson
342. James Wilson
343. Quenna Wong
344. Huichun Xu
345. Lisa Yanek
346. Ivana Yang
347. Rongze Yang
348. Norann Zaghloul
349. Maryam Zekavat
350. Yingze Zhang
351. Snow Xueyan Zhao
352. Wei Zhao
353. Xiuwen Zheng
354. Degui Zhi
355. Xiang Zhou
356. Michael Zody
357. Sebastian Zoellner

1. National Heart, Lung, and Blood Institute
2. National Institute of Environmental Health Sciences
3. National Institute on Minority Health and Health Disparities
4. U.S. Department of Defense
5. National Institutes of Health
6. Tobacco-Related Disease Research Program

1. Gibson, Hints of hidden heritability in GWAS, Nat Genet, № 42, с. 558
   https://doi.org/10.1038/ng0710-558
2. Barnes, Genetic studies of the etiology of asthma, Proc Am Thorac Soc, № 8, с. 143
   https://doi.org/10.1513/pats.201103-030MS
3. Carr, Asthma heterogeneity and severity, World Allergy Organ J, № 9, с. 41
   https://doi.org/10.1186/s40413-016-0131-2
4. Bonnelykke, Leveraging gene-environment interactions and endotypes for asthma gene discovery, J Allergy Clin Immunol, № 137, с. 667
   https://doi.org/10.1016/j.jaci.2016.01.006
5. Weinberger, Why clinical practice guidelines hinder rather than help, Paediatr Respir Rev, № 25, с. 85
6. Fanta, Asthma, N Engl J Med, № 360, с. 1002
   https://doi.org/10.1056/NEJMra0804579
7. Becker, Asthma guidelines: the Global Initiative for Asthma in relation to national guidelines, Curr Opin Allergy Clin Immunol, № 17, с. 99
   https://doi.org/10.1097/ACI.0000000000000346
8. Kaur, Phenotypes and endotypes of adult asthma: moving toward precision medicine, J Allergy Clin Immunol, № 144, с. 1
   https://doi.org/10.1016/j.jaci.2019.05.031
9. Santus, Current and future targeted therapies for severe asthma: managing treatment with biologics based on phenotypes and biomarkers, Pharmacol Res, № 146, с. 104296
   https://doi.org/10.1016/j.phrs.2019.104296
10. Bønnelykke, A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations, Nat Genet, № 46, с. 51
    https://doi.org/10.1038/ng.2830
11. Moffatt, A large-scale, consortium-based genomewide association study of asthma, N Engl J Med, № 363, с. 1211
    https://doi.org/10.1056/NEJMoa0906312
12. Torgerson, Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations, Nat Genet, № 43, с. 887892
13. Himes, Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene, Am J Hum Genet, № 84, с. 581
    https://doi.org/10.1016/j.ajhg.2009.04.006
14. Campbell, Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma, PLoS One, № 9
    https://doi.org/10.1371/journal.pone.0104396
15. Smith, A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma, PLoS Genet, № 13
    https://doi.org/10.1371/journal.pgen.1006659
16. Romero-Espinoza, Virome and bacteriome characterization of children with pneumonia and asthma in Mexico City during winter seasons 2014 and 2015, PLoS One, № 13
    https://doi.org/10.1371/journal.pone.0192878
17. Horvath, Family-based tests for associating haplotypes with general phenotype data: application to asthma genetics, Genet Epidemiol, № 26, с. 61
    https://doi.org/10.1002/gepi.10295
18. Laird, Family-based designs in the age of large-scale gene-association studies, Nat Rev Genet, № 7, с. 385
    https://doi.org/10.1038/nrg1839
19. Hunninghake, Sensitization to Ascaris lumbricoides and severity of childhood asthma in Costa Rica, J Allergy Clin Immunol, № 119, с. 654
    https://doi.org/10.1016/j.jaci.2006.12.609
20. Pearce, Worldwide trends in the prevalence of asthma symptoms: phase III of the International Study of Asthma and Allergies in Childhood (ISAAC), Thorax, № 62, с. 758
    https://doi.org/10.1136/thx.2006.070169
21. Escamilla, Use of linkage disequilibrium approaches to map genes for bipolar disorder in the Costa Rican population, Am J Med Genet, № 67, с. 244
    https://doi.org/10.1002/(SICI)1096-8628(19960531)67:3<244::AID-AJMG2>3.0.CO;2-N
22. Price, New approaches to population stratification in genome-wide association studies, Nat Rev Genet, № 11, с. 459
    https://doi.org/10.1038/nrg2813
23. Rabinowitz, A unified approach to adjusting association tests for population admixture with arbitrary pedigree structure and arbitrary missing marker information, Hum Hered, № 50
    https://doi.org/10.1159/000022918
24. Lange, A multivariate family-based association test using generalized estimating equations: FBAT-GEE, Biostatistics, № 4, с. 195
    https://doi.org/10.1093/biostatistics/4.2.195
25. The Childhood Asthma Management Program (CAMP): design, rationale, and methods—Childhood Asthma Management Program Research Group, Control Clin Trials, № 20, с. 91
    https://doi.org/10.1016/S0197-2456(98)00044-0
26. Nishimura, Early-life air pollution and asthma risk in minority children: the GALA II and SAGE II studies, Am J Respir Crit Care Med, № 188, с. 309
    https://doi.org/10.1164/rccm.201302-0264OC
27. Wells, Assessing differences in inhaled corticosteroid response by self-reported race-ethnicity and genetic ancestry among asthmatic subjects, J Allergy Clin Immunol, № 137
    https://doi.org/10.1016/j.jaci.2015.12.1334
28. Brehm, African ancestry and lung function in Puerto Rican children, J Allergy Clin Immunol, № 129
    https://doi.org/10.1016/j.jaci.2012.03.035
29. Bisgaard, The Copenhagen Prospective Study on Asthma in Childhood (COPSAC): design, rationale, and baseline data from a longitudinal birth cohort study, Ann Allergy Asthma Immunol, № 93, с. 381
    https://doi.org/10.1016/S1081-1206(10)61398-1
30. Bisgaard, Interaction between asthma and lung function growth in early life, Am J Respir Crit Care Med, № 185, с. 1183
    https://doi.org/10.1164/rccm.201110-1922OC
31. Zaykin, Optimally weighted Z-test is a powerful method for combining probabilities in meta-analysis, J Evol Biol, № 24, с. 1836
32. Schroder, survcomp: an R/Bioconductor package for performance assessment and comparison of survival models, Bioinformatics, № 27, с. 3206
    https://doi.org/10.1093/bioinformatics/btr511
33. Galanter, ORMDL3 gene is associated with asthma in three ethnically diverse populations, Am J Respir Crit Care Med, № 177, с. 1194
    https://doi.org/10.1164/rccm.200711-1644OC
34. Verlaan, Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease, Am J Hum Genet, № 85, с. 377
    https://doi.org/10.1016/j.ajhg.2009.08.007
35. Himes, RNA-Seq transcriptome profiling identifies CRISPLD2 as a glucocorticoid responsive gene that modulates cytokine function in airway smooth muscle cells, PLoS One, № 9
    https://doi.org/10.1371/journal.pone.0099625
36. Himes, Genome-wide association analysis in asthma subjects identifies SPATS2L as a novel bronchodilator response gene, PLoS Genet, № 8
    https://doi.org/10.1371/journal.pgen.1002824
37. Masuno, Expression profiling identifies Klf15 as a glucocorticoid target that regulates airway hyperresponsiveness, Am J Respir Cell Mol Biol, № 45, с. 642
    https://doi.org/10.1165/rcmb.2010-0369OC
38. Misior, Glucocorticoid- and protein kinase A-dependent transcriptome regulation in airway smooth muscle, Am J Respir Cell Mol Biol, № 41, с. 24
    https://doi.org/10.1165/rcmb.2008-0266OC
39. Wang, The novel lipopolysaccharide-binding protein CRISPLD2 is a critical serum protein to regulate endotoxin function, J Immunol, № 183, с. 6646
    https://doi.org/10.4049/jimmunol.0802348
40. Yang, MiR-652-3p is upregulated in non-small cell lung cancer and promotes proliferation and metastasis by directly targeting Lgl1, Oncotarget, № 7, с. 16703
    https://doi.org/10.18632/oncotarget.7697
41. Oyewumi, Antisense oligodeoxynucleotides decrease LGL1 mRNA and protein levels and inhibit branching morphogenesis in fetal rat lung, Am J Respir Cell Mol Biol, № 28, с. 232
    https://doi.org/10.1165/rcmb.4877
42. Lan, Inflammatory cytokines, goblet cell hyperplasia and altered lung mechanics in Lgl1+/- mice, Respir Res, № 10, с. 83
    https://doi.org/10.1186/1465-9921-10-83
43. Nadeau, Modulation of Lgl1 by steroid, retinoic acid, and vitamin D models complex transcriptional regulation during alveolarization, Pediatr Res, № 67, с. 375
    https://doi.org/10.1203/PDR.0b013e3181d23656
44. Zhang, LGL1 modulates proliferation, apoptosis, and migration of human fetal lung fibroblasts, Am J Physiol Lung Cell Mol Physiol, № 308, с. L391
    https://doi.org/10.1152/ajplung.00119.2014
45. Forno, Obesity and airway dysanapsis in children with and without asthma, Am J Respir Crit Care Med, № 195, с. 314
    https://doi.org/10.1164/rccm.201605-1039OC
46. Jones, Asthma and obesity in children are independently associated with airway dysanapsis, Front Pediatr, № 5, с. 270
    https://doi.org/10.3389/fped.2017.00270
47. Abecasis, A map of human genome variation from population-scale sequencing, Nature, № 467, с. 1061
    https://doi.org/10.1038/nature09534
48. Loehlein Fier, On the association analysis of genome-sequencing data: a spatial clustering approach for partitioning the entire genome into nonoverlapping windows, Genet Epidemiol, № 41, с. 332
    https://doi.org/10.1002/gepi.22040

An epigenome-wide study of DNA methylation profiles and lung function among American Indians in the Strong Heart Study

Arce Domingo-Relloso, Angela L. Riffo-Campos, Martha Powers, Maria Tellez-Plaza, Karin Haack, Robert H. Brown, Jason G. Umans, M. Daniele Fallin, Shelley A. Cole, Ana Navas-Acien, Tiffany R. Sanchez

https://doi.org/10.1186/s13148-022-01294-8 ·

<p>Pharmacogenetics of Pediatric Asthma: Current Perspectives</p>

Javier Perez-Garcia, Antonio Espuela-Ortiz, Fabian Lorenzo-Diaz, Maria Pino-Yanes

https://doi.org/10.2147/pgpm.s201276 ·

Revisiting the Population Genetics of Human Height

Peter Rotwein

https://doi.org/10.1210/jendso/bvaa025 ·

A novel piwi-interacting RNA associates with type 2–high asthma phenotypes

Jiang Li, Xiaoning Hong, Mingye Jiang, Alvin T. Kho, Anshul Tiwari, Alberta L. Wang, Robert P. Chase, Juan C. Celedón, Scott T. Weiss, Michael J. McGeachie, Kelan G. Tantisira

https://doi.org/10.1016/j.jaci.2023.10.032 ·

Дані публікації