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