دورية أكاديمية
Genetic Predisposition to Adverse Neurodevelopmental Outcome of Extremely Low Birth Weight Infants.
| العنوان: | Genetic Predisposition to Adverse Neurodevelopmental Outcome of Extremely Low Birth Weight Infants. |
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| المؤلفون: | Varner MW; Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah., Thom EA; Biostatistics Coordinating Center, George Washington University, Washington, District of Columbia., Cotten CM; Department of Pediatrics, Duke University, Durham, North Carolina., Hintz SR; Department of Pediatrics, Stanford University School of Medicine and Lucile Packard Children's Hospital, Palo Alto, California., Page GP; Social, Statistical and Environmental Sciences Unit, RTI International, Atlanta, Georgia., Rouse DJ; Department of Obstetrics and Gynecology, University of Alabama at Birmingham, Birmingham, Alabama., Mercer BM; Case Western Reserve University-MetroHealth Medical Center, Cleveland, Ohio.; University of Tennessee, Memphis, Tennessee., Costantine MM; Department of Obstetrics and Gynecology, The Ohio State University, Columbus, Ohio., Sorokin Y; Department of Obstetrics and Gynecology, Wayne State University, Detroit, Michigan., Thorp JM Jr; Department of Obstetrics and Gynecology, University of North Carolina, Chapel Hill, North Carolina., Ramin SM; Department of Obstetrics and Gynecology, University of Texas Health Science Center at Houston-Children's Memorial Hermann Hospital, Houston, Texas., Carpenter MW; Department of Obstetrics and Gynecology, Brown University, Providence, Rhode Island., O'Sullivan MJ; Department of Obstetrics and Gynecology, University of Miami, Miami, Florida., Peaceman AM; Department of Obstetrics and Gynecology, Northwestern University, Chicago, Illinois., Saade GR; Department of Obstetrics and Gynecology, University of Texas Medical Branch, Galveston, Texas., Dudley DJ; Department of Obstetrics and Gynecology, University of Texas Health Sciences Center at San Antonio, San Antonio, Texas., Caritis SN; Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania. |
| مؤلفون مشاركون: | Eunice Kennedy Shriver National Institute of Child Health Human Development Maternal-Fetal Medicine Units Network Neonatal Research Network |
| المصدر: | American journal of perinatology [Am J Perinatol] 2024 May; Vol. 41 (S 01), pp. e2710-e2716. Date of Electronic Publication: 2023 Sep 19. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural |
| اللغة: | English |
| بيانات الدورية: | Publisher: Thieme-Stratton Country of Publication: United States NLM ID: 8405212 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-8785 (Electronic) Linking ISSN: 07351631 NLM ISO Abbreviation: Am J Perinatol Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: New York, NY : Thieme-Stratton, 1983- |
| مواضيع طبية MeSH: | Infant, Extremely Low Birth Weight* , Polymorphism, Single Nucleotide* , Cerebral Palsy*/genetics , Genetic Predisposition to Disease*, Humans ; Female ; Male ; Case-Control Studies ; Infant, Newborn ; Developmental Disabilities/genetics ; Infant ; Gestational Age ; Neurodevelopmental Disorders/genetics ; Genetic Association Studies ; Multivariate Analysis |
| مستخلص: | Objective: This study aimed to evaluate whether there are genetic variants associated with adverse neurodevelopmental outcomes in extremely low birth weight (ELBW) infants. Study Design: We conducted a candidate gene association study in two well-defined cohorts of ELBW infants (<1,000 g). One cohort was for discovery and the other for replication. The discovery case-control analysis utilized anonymized DNA samples and evaluated 1,614 single-nucleotide polymorphisms (SNPs) in 145 genes concentrated in inflammation, angiogenesis, brain development, and oxidation pathways. Cases were children who died by age one or who were diagnosed with cerebral palsy (CP) or neurodevelopmental delay (Bayley II mental developmental index [MDI] or psychomotor developmental index [PDI] < 70) by 18 to 22 months. Controls were survivors with normal neurodevelopment. We assessed significant epidemiological variables and SNPs associated with the combined outcome of CP or death, CP, mental delay (MDI < 70) and motor delay (PDI < 70). Multivariable analyses adjusted for gestational age at birth, small for gestational age, sex, antenatal corticosteroids, multiple gestation, racial admixture, and multiple comparisons. SNPs associated with adverse neurodevelopmental outcomes with p < 0.01 were selected for validation in the replication cohort. Successful replication was defined as p < 0.05 in the replication cohort. Results: Of 1,013 infants analyzed (452 cases, 561 controls) in the discovery cohort, 917 were successfully genotyped for >90% of SNPs and passed quality metrics. After adjusting for covariates, 26 SNPs with p < 0.01 for one or more outcomes were selected for replication cohort validation, which included 362 infants (170 cases and 192 controls). A variant in SERPINE1, which encodes plasminogen activator inhibitor (PAI1), was associated with the combined outcome of CP or death in the discovery analysis ( p = 4.1 × 10 -4 ) and was significantly associated with CP or death in the replication cohort (adjusted odd ratio: 0.4; 95% confidence interval: 0.2-1.0; p = 0.039). Conclusion: A genetic variant in SERPINE1, involved in inflammation and coagulation, is associated with CP or death among ELBW infants. Key Points: · Early preterm and ELBW infants have dramatically increased risks of CP and developmental delay.. · A genetic variant in SERPINE1 is associated with CP or death among ELBW infants.. · The SERPINE1 gene encodes the serine protease inhibitor plasminogen activator inhibitor.. Competing Interests: None declared. (Thieme. All rights reserved.) |
| References: | Pediatrics. 2004 Oct;114(4):941-7. (PMID: 15466088) Hum Genet. 2009 Jul;126(1):149-72. (PMID: 19238444) Am J Obstet Gynecol. 2006 Mar;194(3):674.e1-11. (PMID: 16522396) J Pediatr. 2011 Dec;159(6):919-25.e3. (PMID: 21798559) J Paediatr Child Health. 2013 Jul;49(7):575-81. (PMID: 23773706) Obstet Gynecol. 2012 Sep;120(3):542-50. (PMID: 22914463) Am J Hum Genet. 2007 Sep;81(3):559-75. (PMID: 17701901) Clin Chem. 2003 Jul;49(7):1081-6. (PMID: 12816904) Am J Obstet Gynecol. 2010 Jul;203(1):83.e1-83.e10. (PMID: 20417488) Pediatr Res. 2005 Apr;57(4):494-9. (PMID: 15718364) Am J Obstet Gynecol. 2005 Oct;193(4):1437. (PMID: 16202738) Pediatrics. 2008 Nov;122(5):1079-85. (PMID: 18977990) Hum Reprod Update. 2013 May-Jun;19(3):289-303. (PMID: 23300202) Lancet. 2008 Jan 19;371(9608):261-9. (PMID: 18207020) Pediatr Res. 2005 Jul;58(1):117-20. (PMID: 15985687) Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2017 Dec;161(4):339-347. (PMID: 29097819) N Engl J Med. 2008 Aug 28;359(9):895-905. (PMID: 18753646) |
| معلومات مُعتمدة: | U10 HD040544 United States HD NICHD NIH HHS; UG1 HD034116 United States HD NICHD NIH HHS; UG1 HD040560 United States HD NICHD NIH HHS; U10 HD021364 United States HD NICHD NIH HHS; U10 HD034116 United States HD NICHD NIH HHS; U10 HD027869 United States HD NICHD NIH HHS; UG1 HD034216 United States HD NICHD NIH HHS; UG1 HD040500 United States HD NICHD NIH HHS; U10 HD027856 United States HD NICHD NIH HHS; U10 HD021373 United States HD NICHD NIH HHS; U10 HD040500 United States HD NICHD NIH HHS; U10 grants Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); UG1 HD027869 United States HD NICHD NIH HHS; U10 HD021385 United States HD NICHD NIH HHS; U01 HD036790 United States HD NICHD NIH HHS; U10 HD034136 United States HD NICHD NIH HHS; UG1 HD027915 United States HD NICHD NIH HHS; UG1 HD087192 United States HD NICHD NIH HHS; U10 HD027880 United States HD NICHD NIH HHS; UG1 HD027853 United States HD NICHD NIH HHS; U10 HD040485 United States HD NICHD NIH HHS; U10 HD027905 United States HD NICHD NIH HHS; UG1 HD040689 United States HD NICHD NIH HHS; M01 RR008084 United States RR NCRR NIH HHS; UG1 HD040544 United States HD NICHD NIH HHS; UG1 HD034208 United States HD NICHD NIH HHS; UG1 HD040512 United States HD NICHD NIH HHS; U10 HD040461 United States HD NICHD NIH HHS; M01 RR016587 United States RR NCRR NIH HHS; U10 HD040689 United States HD NICHD NIH HHS; U10 HD040492 United States HD NICHD NIH HHS; U10 HD027917 United States HD NICHD NIH HHS; U10 HD027853 United States HD NICHD NIH HHS; U10 HD027904 United States HD NICHD NIH HHS; U10 HD021397 United States HD NICHD NIH HHS; U10 HD034122 United States HD NICHD NIH HHS; UG1 HD027856 United States HD NICHD NIH HHS; U10 HD027915 United States HD NICHD NIH HHS; UG1 HD040545 United States HD NICHD NIH HHS; UG1 HD040485 United States HD NICHD NIH HHS; U10 HD027871 United States HD NICHD NIH HHS; U10 HD027860 United States HD NICHD NIH HHS; UG1 HD027904 United States HD NICHD NIH HHS; U10 HD040560 United States HD NICHD NIH HHS; U10 HD034208 United States HD NICHD NIH HHS; M01 RR007122 United States RR NCRR NIH HHS; U10 HD027851 United States HD NICHD NIH HHS; UG1 HD021385 United States HD NICHD NIH HHS; UG1 HD040492 United States HD NICHD NIH HHS; UG1 HD021364 United States HD NICHD NIH HHS; UG1 HD027880 United States HD NICHD NIH HHS; U01 HD019897 United States HD NICHD NIH HHS; UG1 HD027851 United States HD NICHD NIH HHS; U10 HD040512 United States HD NICHD NIH HHS; U10 HD021410 United States HD NICHD NIH HHS; U10 HD036801 United States HD NICHD NIH HHS; M01 RR000080 United States RR NCRR NIH HHS; U24 HD036801 United States HD NICHD NIH HHS; U10 HD034216 United States HD NICHD NIH HHS; U10 HD036790 United States HD NICHD NIH HHS; U10 HD040545 United States HD NICHD NIH HHS; U10 HD040498 United States HD NICHD NIH HHS; U01 HD036801 United States HD NICHD NIH HHS; M01 RR006022 United States RR NCRR NIH HHS |
| تواريخ الأحداث: | Date Created: 20230919 Date Completed: 20240605 Latest Revision: 20240730 |
| رمز التحديث: | 20240730 |
| مُعرف محوري في PubMed: | PMC10948377 |
| DOI: | 10.1055/s-0043-1774312 |
| PMID: | 37726016 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1098-8785 |
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| DOI: | 10.1055/s-0043-1774312 |