Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis

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Standard

Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. / Feenstra, Bjarke; Geller, Frank; Krogh, Camilla; Hollegaard, Mads V.; Gørtz, Sanne; Boyd, Heather A.; Murray, Jeffrey C.; Hougaard, David M.; Melbye, Mads.

I: Nature Genetics, Bind 44, Nr. 3, 03.2012, s. 334-337.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Feenstra, B, Geller, F, Krogh, C, Hollegaard, MV, Gørtz, S, Boyd, HA, Murray, JC, Hougaard, DM & Melbye, M 2012, 'Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis', Nature Genetics, bind 44, nr. 3, s. 334-337. https://doi.org/10.1038/ng.1067

APA

Feenstra, B., Geller, F., Krogh, C., Hollegaard, M. V., Gørtz, S., Boyd, H. A., Murray, J. C., Hougaard, D. M., & Melbye, M. (2012). Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. Nature Genetics, 44(3), 334-337. https://doi.org/10.1038/ng.1067

Vancouver

Feenstra B, Geller F, Krogh C, Hollegaard MV, Gørtz S, Boyd HA o.a. Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. Nature Genetics. 2012 mar.;44(3):334-337. https://doi.org/10.1038/ng.1067

Author

Feenstra, Bjarke ; Geller, Frank ; Krogh, Camilla ; Hollegaard, Mads V. ; Gørtz, Sanne ; Boyd, Heather A. ; Murray, Jeffrey C. ; Hougaard, David M. ; Melbye, Mads. / Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. I: Nature Genetics. 2012 ; Bind 44, Nr. 3. s. 334-337.

Bibtex

@article{39d0bce799a7483bad3bb0f3ba7dcb63,
title = "Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis",
abstract = "Infantile hypertrophic pyloric stenosis (IHPS) is a severe condition characterized by hypertrophy of the pyloric sphincter muscle. We conducted a genome-wide association study (GWAS) on 1,001 surgery-confirmed cases and 2,401 controls from Denmark. The six most strongly associated loci were tested in a replication set of 796 cases and 876 controls. Three SNPs reached genome-wide significance. One of these SNPs, rs11712066 (odds ratio (OR) = 1.61; P = 1.5 - 10 g 17) at 3p25.1, is located 150 kb upstream of MBNL1, which encodes a factor that regulates splicing transitions occurring shortly after birth. The second SNP, rs573872 (OR = 1.41; P = 4.3 - 10 g 12), maps to an intergenic region at 3p25.2 approximately 1.3 Mb downstream of MBNL1. The third SNP, rs29784 (OR = 1.42; P = 1.5 - 10 g15) at 5q35.2, is 64 kb downstream of NKX2-5, which is involved in development of cardiac muscle tissue and embryonic gut development.",
author = "Bjarke Feenstra and Frank Geller and Camilla Krogh and Hollegaard, {Mads V.} and Sanne G{\o}rtz and Boyd, {Heather A.} and Murray, {Jeffrey C.} and Hougaard, {David M.} and Mads Melbye",
year = "2012",
month = mar,
doi = "10.1038/ng.1067",
language = "English",
volume = "44",
pages = "334--337",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "nature publishing group",
number = "3",

}

RIS

TY - JOUR

T1 - Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis

AU - Feenstra, Bjarke

AU - Geller, Frank

AU - Krogh, Camilla

AU - Hollegaard, Mads V.

AU - Gørtz, Sanne

AU - Boyd, Heather A.

AU - Murray, Jeffrey C.

AU - Hougaard, David M.

AU - Melbye, Mads

PY - 2012/3

Y1 - 2012/3

N2 - Infantile hypertrophic pyloric stenosis (IHPS) is a severe condition characterized by hypertrophy of the pyloric sphincter muscle. We conducted a genome-wide association study (GWAS) on 1,001 surgery-confirmed cases and 2,401 controls from Denmark. The six most strongly associated loci were tested in a replication set of 796 cases and 876 controls. Three SNPs reached genome-wide significance. One of these SNPs, rs11712066 (odds ratio (OR) = 1.61; P = 1.5 - 10 g 17) at 3p25.1, is located 150 kb upstream of MBNL1, which encodes a factor that regulates splicing transitions occurring shortly after birth. The second SNP, rs573872 (OR = 1.41; P = 4.3 - 10 g 12), maps to an intergenic region at 3p25.2 approximately 1.3 Mb downstream of MBNL1. The third SNP, rs29784 (OR = 1.42; P = 1.5 - 10 g15) at 5q35.2, is 64 kb downstream of NKX2-5, which is involved in development of cardiac muscle tissue and embryonic gut development.

AB - Infantile hypertrophic pyloric stenosis (IHPS) is a severe condition characterized by hypertrophy of the pyloric sphincter muscle. We conducted a genome-wide association study (GWAS) on 1,001 surgery-confirmed cases and 2,401 controls from Denmark. The six most strongly associated loci were tested in a replication set of 796 cases and 876 controls. Three SNPs reached genome-wide significance. One of these SNPs, rs11712066 (odds ratio (OR) = 1.61; P = 1.5 - 10 g 17) at 3p25.1, is located 150 kb upstream of MBNL1, which encodes a factor that regulates splicing transitions occurring shortly after birth. The second SNP, rs573872 (OR = 1.41; P = 4.3 - 10 g 12), maps to an intergenic region at 3p25.2 approximately 1.3 Mb downstream of MBNL1. The third SNP, rs29784 (OR = 1.42; P = 1.5 - 10 g15) at 5q35.2, is 64 kb downstream of NKX2-5, which is involved in development of cardiac muscle tissue and embryonic gut development.

UR - http://www.scopus.com/inward/record.url?scp=84857648080&partnerID=8YFLogxK

U2 - 10.1038/ng.1067

DO - 10.1038/ng.1067

M3 - Journal article

C2 - 22306654

AN - SCOPUS:84857648080

VL - 44

SP - 334

EP - 337

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 3

ER -

ID: 258214177