Citation

BibTex format

@article{Zhang:2022:10.1164/rccm.202203-0622LE,
author = {Zhang, D and Povysil, G and Newton, CA and Maher, TM and Molyneaux, PL and Noth, I and Martinez, FJ and Raghu, G and Todd, JL and Palmer, SM and Platt, A and Petrovski, S and Goldstein, DB and Garcia, CK},
doi = {10.1164/rccm.202203-0622LE},
journal = {American Journal of Respiratory and Critical Care Medicine},
pages = {903--905},
title = {Genome-wide enrichment of TERT rare variants in Idiopathic Pulmonary Fibrosis patients of Latino ancestry},
url = {http://dx.doi.org/10.1164/rccm.202203-0622LE},
volume = {206},
year = {2022}
}

RIS format (EndNote, RefMan)

TY  - JOUR
AB - Genome-wide rare variant studies of IPF patients of non-European ancestry have been understudied. Here, we evaluate the enrichment of rare genetic variants of 241 unrelated non-European cases, representing individuals of Latino, African, South Asian, East Asian, and Other Admixed ancestry. Gene burden analysis of deleterious rare (protein-truncating and missense) variants demonstrate an excess of TERT rare damaging variants (OR 67.1, 95% CI [23.1, 195.0], P = 9.4 x 10-14) in non-European subjects. Analysis by ancestry demonstrated an excess of rare, damaging TERT variants in the Latino subgroup (OR 80.9, 95% CI [17.3, 383.8], P = 2.6 x 10-8). Although the non-European group did not show enrichment of PARN, RTEL1, and KIF15 rare deleterious variants, these groups all showed a trend in the same direction as the European ancestry group. For TERT and KIF15, the inclusion of IPF patients of non-European ancestry led to a higher odds ratios and increased evidence in favor of rare deleterious variant contributions, thus demonstrating the increased power of multi-ethnic studies over single-ethnicity studies. To our knowledge, this is the first study that confirms the involvement of rare deleterious TERT variants for IPF patients of Latino and non-European ancestry. To better understand the genetic underpinnings of IPF patients of all ancestries, additional work will be needed to broaden patient recruitment to normalize imbalances.
AU - Zhang,D
AU - Povysil,G
AU - Newton,CA
AU - Maher,TM
AU - Molyneaux,PL
AU - Noth,I
AU - Martinez,FJ
AU - Raghu,G
AU - Todd,JL
AU - Palmer,SM
AU - Platt,A
AU - Petrovski,S
AU - Goldstein,DB
AU - Garcia,CK
DO - 10.1164/rccm.202203-0622LE
EP - 905
PY - 2022///
SN - 1073-449X
SP - 903
TI - Genome-wide enrichment of TERT rare variants in Idiopathic Pulmonary Fibrosis patients of Latino ancestry
T2 - American Journal of Respiratory and Critical Care Medicine
UR - http://dx.doi.org/10.1164/rccm.202203-0622LE
UR - https://www.ncbi.nlm.nih.gov/pubmed/35666822
UR - https://www.atsjournals.org/doi/10.1164/rccm.202203-0622LE
UR - http://hdl.handle.net/10044/1/97600
VL - 206
ER -