Replication of a Genome-Wide Association Study of Birth Weight in Preterm Neonates

Ryckman, Kelli K.; Feenstra, Bjarke; Shaffer, John R.; Bream, Elise N.A.; Geller, Frank; Feingold, Eleanor; Weeks, Daniel E.; Gadow, Enrique C.; Cosentino, Viviana; Saleme, César; Simhan, Hyagriv N.; Merrill, David; Fong, Chin To; Busch, Tamara; Berends, Susan K.; Comas, Belén; Camelo, Jorge López; Boyd, Heather A.; Crosslin, David R.; Zhang, Qi; Doheny, Kimberly F.; Pugh, Elizabeth; Melbye, Mads; Marazita, Mary L.; Dagle, John M.; Murray, Jeffrey C.

doi:10.1016/j.jpeds.2011.07.038

Cited by 20 publications

(12 citation statements)

References 33 publications

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“…The study population consisted of children from a previous case–control study nested in the Danish National Birth Cohort (DNBC) with available DNA and detailed information on skin diseases (http://www.dnbc.dk). In the earlier study, living singletons born preterm (cases, n = 1000, ≤36 weeks) and term (controls, n = 1000, 40 weeks) from uncomplicated pregnancies were selected for genomewide association study .…”

Section: Methodsmentioning

confidence: 99%

Filaggrin genotype and skin diseases independent of atopic dermatitis in childhood

Bager

Wohlfahrt

Thyssen

et al. 2015

Pediatric Allergy Immunology

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Section: Methodsmentioning

confidence: 99%

Filaggrin genotype and skin diseases independent of atopic dermatitis in childhood

Bager

Wohlfahrt

Thyssen

et al. 2015

Pediatric Allergy Immunology

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“…Mutations in factor V Leiden, prothrombin G20210A, and IL1β have been implicated in the development of grade I and II IVH. 70–72 Polymorphisms of IL-6 and TNFα are proposed as genetic modifiers of IVH risk. 73, 74 In addition, polymorphism of methylene tetrahydrofolate reductase (MTHFR) gene has been reported in infants with IVH.…”

Section: Pathogenesis Of Intraventricular Hemorrhagementioning

confidence: 99%

Pathogenesis and Prevention of Intraventricular Hemorrhage

Ballabh

2014

Clinics in Perinatology

273

219

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SYNOPSIS Intraventricular hemorrhage (IVH) is a major neurological complication of prematurity. Pathogenesis of intraventricular hemorrhage is attributed to intrinsic fragility of germinal matrix vasculature and to the fluctuation in the cerebral blood flow. Germinal matrix exhibits rapid angiogenesis orchestrating formation of immature vessels. The angiogenic vessels lack pericytes, display immature basal lamina low in fibronectin, and have astrocyte end-feet coverage deficient in glial fibrillary acidic protein. These factors contribute to the fragility of the germinal matrix vasculature. Fluctuation in the cerebral blood flow results from a wide range of respiratory and hemodynamic instability associated with the preterm infants. Prenatal glucocorticoid exposure remains the most effective means of preventing IVH. Therapies targeted to enhance the stability of the germinal matrix vasculature and minimize fluctuation in the cerebral blood flow might lead to more effective strategies in preventing IVH.

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“…In their meta-analysis of five independent Caucasian preterm infant populations, Ryckman et al (2012) confirmed a marginally significant association between rs900400 and birth weight. However, the influence of rs9883204 and rs900400 on birth weight varies among people of different regions and races.…”

Section: Introductionmentioning

confidence: 89%

Study of the relationship between variants near CCNL1/LEKR1 and in ADCY5 with low birth weight in a Chinese population

et al. 2015

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The aim of this study was to test the impact of variants rs900400 (located near LEKR1 and CCNL1) and rs9883204 (located in ADCY5) on birth weight in a Chinese population. We conducted a case-control study including 156 low-birth-weight infants as the case group and 100 normal-birth-weight infants as the control group. The rs900400 and rs9883204 variants were analyzed by gene sequencing in all the participants. Our results revealed a significant difference in the genotype distribution (v 2 = 10.449, p = 0.005) and allele distribution (v 2 = 9.277, p = 0.002) of rs900400 between the case group and the control group. The C allele of rs900400 was associated with lower birth weight (OR 1.771 [95 % CI 1.237-2.535]) in the Chinese population. However, the rs9883204 polymorphism was not informative in the Chinese population. Our study shows that the ''birth weightlowering'' variant rs900400 located near LEKR1 and CCNL1, which is strongly associated with birth weight in European cohorts, appears to have a similar association in Chinese cohorts. However, the rs9883204 variant located in ADCY5 does not appear to be correlated with low birth weight in the same population. Moreover, we found that the variant rs900400 may also be associated with premature birth, thereby supporting the need for further research in this area.

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Replication of a Genome-Wide Association Study of Birth Weight in Preterm Neonates

Cited by 20 publications

References 33 publications

Filaggrin genotype and skin diseases independent of atopic dermatitis in childhood

Filaggrin genotype and skin diseases independent of atopic dermatitis in childhood

Pathogenesis and Prevention of Intraventricular Hemorrhage

Study of the relationship between variants near CCNL1/LEKR1 and in ADCY5 with low birth weight in a Chinese population

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