Plasma Lipids, Genetic Variants Near<i>APOA1</i>, and the Risk of Infantile Hypertrophic Pyloric Stenosis

Feenstra, Bjarke; Geller, Frank; Carstensen, Lisbeth; Romitti, Paul A.; Körberg, Izabella Baranowska; Bedell, Bruce; Krogh, Camilla; Fan, Ruzong; Svenningsson, Anna; Casini, Michèle; Nordenskjöld, Agneta; Mills, James L.; Murray, Jeffrey C.; Melbye, Mads

doi:10.1001/jama.2013.242978

Cited by 28 publications

(33 citation statements)

References 41 publications

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“…Genome‐wide significant results were replicated in populations of European descent followed by confirmation in a Hispanic population. The meta‐analysis confirmed the genome‐wide significant SNPs identified in the two earlier GWAS (SNPs located close to MBNL1 and NKX2‐5 (Feenstra et al, ), and APOA1 (Feenstra et al, )) and reported two novel loci that included EML4 , MTA3 , and BARX1 (Table ).…”

Section: Gwas Of Selected Birth Defectssupporting

confidence: 74%

“…The incidence of pyloric stenosis varies between two and five per 1,000 live births and there is a four-to five-fold higher risk in males than females (Peters, Oomen, Bakx, & Benninga, 2014). Three GWAS have been conducted using surgery-confirmed cases and controls from Denmark in the discovery phase (Fadista et al, 2019;Feenstra et al, 2012;Feenstra et al, 2013). Replication samples were drawn solely from the same population as the discovery phase in the earliest study (Feenstra et al, 2012) while the 2013 study (Feenstra et al, 2013) also included replication samples from the United States (mostly non-Hispanic white) and Sweden.…”

Section: Pyloric Stenosismentioning

confidence: 99%

“…Three GWAS have been conducted using surgery-confirmed cases and controls from Denmark in the discovery phase (Fadista et al, 2019;Feenstra et al, 2012;Feenstra et al, 2013). Replication samples were drawn solely from the same population as the discovery phase in the earliest study (Feenstra et al, 2012) while the 2013 study (Feenstra et al, 2013) also included replication samples from the United States (mostly non-Hispanic white) and Sweden. In the most recent study, Fadista et al (2019)) conducted a genome-wide meta-analysis, combining their previous GWAS cohort with an additional 427 surgery-confirmed cases and 2,031 controls, all of Danish descent, in their discovery phase.…”

Section: Pyloric Stenosismentioning

confidence: 99%

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Genome‐wide association studies of structural birth defects: A review and commentary

Lupo

Mitchell

Jenkins

2019

Birth Defects Research

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Background While there is strong evidence that genetic risk factors play an important role in the etiologies of structural birth defects, compared to other diseases, there have been relatively few genome‐wide association studies (GWAS) of these conditions. We reviewed the current landscape of GWAS conducted for birth defects, noting novel insights, and future directions. Methods This article reviews the literature with regard to GWAS of structural birth defects. Key defects included in this review include oral clefts, congenital heart defects (CHDs), biliary atresia, pyloric stenosis, hypospadias, craniosynostosis, and clubfoot. Additionally, other issues related to GWAS are considered, including the assessment of polygenic risk scores and issues related to genetic ancestry, as well as utilizing genome‐wide single nucleotide polymorphism array data to evaluate gene–environment interactions and Mendelian randomization. Results For some birth defects, including oral clefts and CHDs, several novel susceptibility loci have been identified and replicated through GWAS, including 8q24 for oral clefts, DGKK for hypospadias, and 4p16 for CHDs. Relatively common birth defects for which there are currently no published GWAS include neural tube defects, anotia/microtia, anophthalmia/microphthalmia, gastroschisis, and omphalocele. Conclusions Overall, GWAS have been successful in identifying several novel susceptibility genes and genomic regions for structural birth defects. These findings have provided new insights into the etiologies of these phenotypes. However, GWAS have been underutilized for understanding the genetic etiologies of several birth defects.

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Section: Gwas Of Selected Birth Defectssupporting

confidence: 74%

Section: Pyloric Stenosismentioning

confidence: 99%

Section: Pyloric Stenosismentioning

confidence: 99%

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Genome‐wide association studies of structural birth defects: A review and commentary

Lupo

Mitchell

Jenkins

2019

Birth Defects Research

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“…In fact, IHPS may be due to defects in ICC or smooth muscle components (Peeters et al, 2012). Environmental factors have also been proposed as potential causes, including erythromycin exposure (Honein et al, 1999), feeding practice (Krogh et al, 2012), and cholesterol levels (Feenstra et al, 2013). Proper patient selection is critical for cell therapy success, since IHPS due to reduced nNOS-expressing neurons is much more likely to respond to ENSC transplantation than IHPS due to a primary myopathy or ICC defect.…”

Section: What Are the Target Diseases For Stem Cell Transplantation?mentioning

confidence: 99%

White paper on guidelines concerning enteric nervous system stem cell therapy for enteric neuropathies

Burns

Goldstein

Newgreen

et al. 2016

Developmental Biology

123

128

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Over the last 20 years, there has been increasing focus on the development of novel stem cell based therapies for the treatment of disorders and diseases affecting the enteric nervous system (ENS) of the gastrointestinal tract (so-called enteric neuropathies). Here, the idea is that ENS progenitor/stem cells could be transplanted into the gut wall to replace the damaged or absent neurons and glia of the ENS. This White Paper sets out experts’ views on the commonly used methods and approaches to identify, isolate, purify, expand and optimize ENS stem cells, transplant them into the bowel, and assess transplant success, including restoration of gut function. We also highlight obstacles that must be overcome in order to progress from successful preclinical studies in animal models to ENS stem cell therapies in the clinic.

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“…More recently a further locus was implicated by GWA analyses that indicate a possible role for a gene on chromosome 11q23.3 34 and there is the suggestion that variants in RET may play a contributory role in IHPS 35 . Clearly IHPS has a highly complex, multifactorial mode of inheritance involves multiple predisposing alleles and different biological pathways, as well as environmental cues.…”

Section: Foxf1 Protein Localisationmentioning

confidence: 99%

A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24

et al. 2016

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Plasma Lipids, Genetic Variants NearAPOA1, and the Risk of Infantile Hypertrophic Pyloric Stenosis

Cited by 28 publications

References 41 publications

Genome‐wide association studies of structural birth defects: A review and commentary

Genome‐wide association studies of structural birth defects: A review and commentary

White paper on guidelines concerning enteric nervous system stem cell therapy for enteric neuropathies

A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24

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