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http://purl.uniprot.org/citations/34180972http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/34180972http://www.w3.org/2000/01/rdf-schema#comment"

Importance

Up to two-thirds of African American individuals carry the benign rs2814778-CC genotype that lowers total white blood cell (WBC) count.

Objective

To examine whether the rs2814778-CC genotype is associated with an increased likelihood of receiving a bone marrow biopsy (BMB) for an isolated low WBC count.

Design, setting, and participants

This retrospective genetic association study assessed African American patients younger than 90 years who underwent a BMB at Vanderbilt University Medical Center, Mount Sinai Health System, or Children's Hospital of Philadelphia from January 1, 1998, to December 31, 2020.

Exposure

The rs2814778-CC genotype.

Main outcomes and measures

The proportion of individuals with the CC genotype who underwent BMB for an isolated low WBC count and had a normal biopsy result compared with the proportion of individuals with the CC genotype who underwent BMB for other indications and had a normal biopsy result.

Results

Among 399 individuals who underwent a BMB (mean [SD] age, 41.8 [22.5] years, 234 [59%] female), 277 (69%) had the CC genotype. A total of 35 patients (9%) had clinical histories of isolated low WBC counts, and 364 (91%) had other histories. Of those with a clinical history of isolated low WBC count, 34 of 35 (97%) had the CC genotype vs 243 of 364 (67%) of those without a low WBC count history. Among those with the CC genotype, 33 of 34 (97%) had normal results for biopsies performed for isolated low WBC counts compared with 134 of 243 individuals (55%) with biopsies performed for other histories (P < .001).

Conclusions and relevance

In this genetic association study, among patients of African American race who had a BMB with a clinical history of isolated low WBC counts, the rs2814778-CC genotype was highly prevalent, and 97% of these BMBs identified no hematologic abnormality. Accounting for the rs2814778-CC genotype in clinical decision-making could avoid unnecessary BMB procedures."xsd:string
http://purl.uniprot.org/citations/34180972http://purl.org/dc/terms/identifier"doi:10.1001/jamainternmed.2021.3108"xsd:string
http://purl.uniprot.org/citations/34180972http://purl.uniprot.org/core/author"Shi M."xsd:string
http://purl.uniprot.org/citations/34180972http://purl.uniprot.org/core/author"Hakonarson H."xsd:string
http://purl.uniprot.org/citations/34180972http://purl.uniprot.org/core/author"Stein C.M."xsd:string
http://purl.uniprot.org/citations/34180972http://purl.uniprot.org/core/author"Roden D.M."xsd:string
http://purl.uniprot.org/citations/34180972http://purl.uniprot.org/core/author"Cox N.J."xsd:string
http://purl.uniprot.org/citations/34180972http://purl.uniprot.org/core/author"Glessner J.T."xsd:string
http://purl.uniprot.org/citations/34180972http://purl.uniprot.org/core/author"Nirenberg S."xsd:string
http://purl.uniprot.org/citations/34180972http://purl.uniprot.org/core/author"Connolly J."xsd:string
http://purl.uniprot.org/citations/34180972http://purl.uniprot.org/core/author"Abul-Husn N.S."xsd:string
http://purl.uniprot.org/citations/34180972http://purl.uniprot.org/core/author"Mentch F."xsd:string
http://purl.uniprot.org/citations/34180972http://purl.uniprot.org/core/author"Bastarache L."xsd:string
http://purl.uniprot.org/citations/34180972http://purl.uniprot.org/core/author"Van Driest S.L."xsd:string
http://purl.uniprot.org/citations/34180972http://purl.uniprot.org/core/author"Shaffer C.M."xsd:string
http://purl.uniprot.org/citations/34180972http://purl.uniprot.org/core/author"Borinstein S.C."xsd:string
http://purl.uniprot.org/citations/34180972http://purl.uniprot.org/core/author"Mosley J.D."xsd:string
http://purl.uniprot.org/citations/34180972http://purl.uniprot.org/core/author"Schildcrout J.S."xsd:string
http://purl.uniprot.org/citations/34180972http://purl.uniprot.org/core/author"Belbin G.M."xsd:string
http://purl.uniprot.org/citations/34180972http://purl.uniprot.org/core/author"Eswarappa M.S."xsd:string
http://purl.uniprot.org/citations/34180972http://purl.uniprot.org/core/date"2021"xsd:gYear
http://purl.uniprot.org/citations/34180972http://purl.uniprot.org/core/name"JAMA Intern Med"xsd:string
http://purl.uniprot.org/citations/34180972http://purl.uniprot.org/core/pages"1100-1105"xsd:string
http://purl.uniprot.org/citations/34180972http://purl.uniprot.org/core/title"Association Between a Common, Benign Genotype and Unnecessary Bone Marrow Biopsies Among African American Patients."xsd:string
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