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Identification of CFTR variants in Latino patients with cystic fibrosis from the Dominican Republic and Puerto Rico
dc.contributor.authorZeiger, Andrew M.
dc.contributor.authorMcGarry, Meghan E.
dc.contributor.authorMak, Angel C. Y.
dc.contributor.authorMedina, Vivian
dc.contributor.authorSalazar, Sandra
dc.contributor.authorEng, Celeste
dc.contributor.authorLiu, Amy K.
dc.contributor.authorOh, Sam S.
dc.contributor.authorNuckton, Thomas J.
dc.contributor.authorJain, Deepti
dc.contributor.authorBlackwell, Thomas W.
dc.contributor.authorKang, Hyun Min
dc.contributor.authorAbecasis, Goncalo
dc.contributor.authorOñate, Leandra Cordero
dc.contributor.authorSeibold, Max A.
dc.contributor.authorBurchard, Esteban G.
dc.contributor.authorRodriguez‐santana, Jose
dc.date.accessioned2020-02-05T15:05:57Z
dc.date.availableWITHHELD_13_MONTHS
dc.date.available2020-02-05T15:05:57Z
dc.date.issued2020-02
dc.identifier.citationZeiger, Andrew M.; McGarry, Meghan E.; Mak, Angel C. Y.; Medina, Vivian; Salazar, Sandra; Eng, Celeste; Liu, Amy K.; Oh, Sam S.; Nuckton, Thomas J.; Jain, Deepti; Blackwell, Thomas W.; Kang, Hyun Min; Abecasis, Goncalo; Oñate, Leandra Cordero ; Seibold, Max A.; Burchard, Esteban G.; Rodriguez‐santana, Jose (2020). "Identification of CFTR variants in Latino patients with cystic fibrosis from the Dominican Republic and Puerto Rico." Pediatric Pulmonology 55(2): 533-540.
dc.identifier.issn8755-6863
dc.identifier.issn1099-0496
dc.identifier.urihttps://hdl.handle.net/2027.42/153634
dc.description.abstractBackgroundIn cystic fibrosis (CF), the spectrum and frequency of CFTR variants differ by geography and race/ethnicity. CFTR variants in White patients are wellâ described compared with Latino patients. No studies of CFTR variants have been done in patients with CF in the Dominican Republic or Puerto Rico.MethodsCFTR was sequenced in 61 Dominican Republican patients and 21 Puerto Rican patients with CF and greater than â â â â 60â mmol/L sweat chloride. The spectrum of CFTR variants was identified and the proportion of patients with 0, 1, or 2 CFTR variants identified was determined. The functional effects of identified CFTR variants were investigated using clinical annotation databases and computational prediction tools.ResultsOur study found 10% of Dominican patients had two CFTR variants identified compared with 81% of Puerto Rican patients. No CFTR variants were identified in 69% of Dominican patients and 10% of Puerto Rican patients. In Dominican patients, there were 19 identified CFTR variants, accounting for 25 out of 122 disease alleles (20%). In Puerto Rican patients, there were 16 identified CFTR variants, accounting for 36 out of 42 disease alleles (86%) in Puerto Rican patients. Thirty CFTR variants were identified overall. The most frequent variants for Dominican patients were p.Phe508del and p.Ala559Thr and for Puerto Rican patients were p.Phe508del, p.Arg1066Cys, p.Arg334Trp, and p.I507del.ConclusionsIn this first description of the CFTR variants in patients with CF from the Dominican Republic and Puerto Rico, there was a low detection rate of two CFTR variants after full sequencing with the majority of patients from the Dominican Republic without identified variants.
dc.publisherWiley Periodicals, Inc.
dc.publisherCystic Fibrosis Foundation
dc.subject.otherwhole genome sequencing
dc.subject.otherLatino
dc.subject.otherCFTR variants
dc.subject.otherhealth disparities
dc.titleIdentification of CFTR variants in Latino patients with cystic fibrosis from the Dominican Republic and Puerto Rico
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelPediatrics
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/153634/1/ppul24549.pdf
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/153634/2/ppul24549_am.pdf
dc.identifier.doi10.1002/ppul.24549
dc.identifier.sourcePediatric Pulmonology
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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