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Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis.

Fadista, João (author)
Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Danish Serum Institute, Copenhagen
Skotte, Line (author)
Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark,Danish Serum Institute, Copenhagen
Geller, Frank (author)
Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark,Danish Serum Institute, Copenhagen
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Bybjerg-Grauholm, Jonas (author)
Department of Congenital Disorders, Danish Center for Neonatal Screening, Statens Serum Institut, Copenhagen, Denmark
Gørtz, Sanne (author)
Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark,Danish Serum Institute, Copenhagen
Romitti, Paul A (author)
Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, IA, USA
Caggana, Michele (author)
Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY, USA,Wadsworth Center for Laboratories and Research
Kay, Denise M (author)
Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY, USA,Wadsworth Center for Laboratories and Research,Stanford University,University of Copenhagen,Danish Serum Institute, Copenhagen
Matsson, Hans, PhD, 1973- (author)
Karolinska Institute
Boyd, Heather A (author)
Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark,Danish Serum Institute, Copenhagen
Hougaard, David M (author)
Department of Congenital Disorders, Danish Center for Neonatal Screening, Statens Serum Institut, Copenhagen, Denmark
Nordenskjöld, Agneta (author)
Karolinska Institute,Karolinska Institutet,Karolinska University Hospital
Mills, James L (author)
Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
Melbye, Mads (author)
Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark; Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA
Feenstra, Bjarke (author)
Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark,Danish Serum Institute, Copenhagen
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 (creator_code:org_t)
2018-10-02
2019
English.
In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 28:2, s. 332-340
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • Infantile hypertrophic pyloric stenosis (IHPS) is a disorder of young infants with a population incidence of ∼2/1000 live births, caused by hypertrophy of the pyloric sphincter smooth muscle. Reported genetic loci associated with IHPS explain only a minor proportion of IHPS risk. To identify new risk loci, we carried out a genome-wide meta-analysis on 1395 surgery-confirmed cases and 4438 controls, with replication in a set of 2427 cases and 2524 controls. We identified and replicated six independent genomic loci associated with IHPS risk at genome wide significance (P < 5 × 10-8), including novel associations with two single nucleotide polymorphisms (SNPs). One of these SNPs, rs6736913 [odds ratio (OR) = 2.32; P = 3.0 × 10-15], is a low frequency missense variant in EML4 at 2p21. The second SNP, rs1933683 (OR = 1.34; P = 3.1 × 10-9) is 1 kb downstream of BARX1 at 9q22.32, an essential gene for stomach formation in embryogenesis. Using the genome-wide complex trait analysis method, we estimated the IHPS SNP heritability to be 30%, and using the linkage disequilibrium score regression method, we found support for a previously reported genetic correlation of IHPS with lipid metabolism. By combining the largest collection of IHPS cases to date (3822 cases), with results generalized across populations of different ancestry, we elucidate novel mechanistic avenues of IHPS disease architecture.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Pediatrik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Pediatrics (hsv//eng)

Keyword

Molekylär genetik
Molecular Genetics

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ref (subject category)
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