Reforma Liberty, Greenberg Simone, Ledyard Rachel, Burris Heather
Obstetrics and Gynecology, Boston Medical Center, Boston, USA.
School of Public Health, Columbia University College of Physicians and Surgeons, New York, USA.
Cureus. 2024 Feb 7;16(2):e53757. doi: 10.7759/cureus.53757. eCollection 2024 Feb.
We conducted a systematic review of representation of race, ethnicity, and ancestry among genomic studies of preterm birth. Our data sources included CINHAL, EMBASE, MEDLINE (PubMed), and Scopus. Studies were included if they were human, genomic studies of preterm birth that analyzed greater than 1,000 genes and included race, ethnicity, and/or ancestry information. Two authors independently reviewed all abstracts and full-text manuscripts. Twelve studies were included. Ancestry was reported for 139,189 (93.6%) participants. Race was reported for 4,841 (3.3%) participants and ethnicity was reported for 7,154 (5.0%) participants. Of the 148,644 births represented in this systematic review, over 90% were reported to be of European ancestry, and race and ethnicity were not further described. When examining the smaller subset of individuals described by race alone, 2,444 individuals were identified as Black or African American and 1,853 were identified as White. Race, ethnicity, and ancestry were not reported in a uniform manner, which makes ascertainment of the genetic contribution to population differences in preterm birth inequities impossible. When reported as race, ethnicity and ancestry, Black or African American populations were under-represented among the studies in this review. Research of the genomics of preterm birth not only requires increased representation of populations that are disproportionately affected, but it also requires standardized reporting of race, ethnicity, and ancestry.
我们对早产基因组研究中种族、民族和血统的代表性进行了系统综述。我们的数据来源包括护理学与健康领域数据库(CINHAL)、荷兰医学文摘数据库(EMBASE)、医学期刊数据库(MEDLINE,即PubMed)和Scopus数据库。纳入的研究需为针对人类的早产基因组研究,这些研究分析了超过1000个基因,并包含种族、民族和/或血统信息。两位作者独立审阅了所有摘要和全文手稿。共纳入12项研究。139,189名(93.6%)参与者的血统信息被报告。4,841名(3.3%)参与者的种族信息被报告,7,154名(5.0%)参与者的民族信息被报告。在本系统综述所涵盖的148,644例出生案例中,超过90%被报告为欧洲血统,且未对种族和民族作进一步描述。在仅按种族描述的较小个体子集中,2444人被确定为黑人或非裔美国人,1853人被确定为白人。种族、民族和血统的报告方式并不统一,这使得确定早产不平等现象中人群差异的遗传贡献变得不可能。在本综述的研究中,当按种族、民族和血统报告时,黑人或非裔美国人种群的代表性不足。早产基因组学研究不仅需要增加受影响比例过高人群的代表性,还需要对种族、民族和血统进行标准化报告。