{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T20:11:12Z","timestamp":1790107872537,"version":"4.0.1"},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,12,20]],"date-time":"2011-12-20T00:00:00Z","timestamp":1324339200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2012,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>Hirschsprung disease (HSCR) is a congenital disorder characterized by an absence of intrinsic ganglion cells in the nerve plexuses of the lower colon. Our previous results showed increased semaphorin 3A (<jats:italic>SEMA3A<\/jats:italic>) expression may be the risk factor for HSCR pathology in a subset of patients. Therefore, the association between polymorphisms in <jats:italic>SEMA3A<\/jats:italic> and the risk of HSCR was examined.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p>The genotypes of two SNPs (rs7804122 and rs797821) in the <jats:italic>SEMA3A<\/jats:italic> gene in 119 patients with HSCR and 93 controls were examined using PCR\u2010sequencing to determine the contribution of <jats:italic>SEMA3A<\/jats:italic> to the HSCR phenotype. PCR reaction with cDNA template was also used to find out whether a novel mutation (Chr7:83634610A\u2192T) influences the <jats:italic>SEMA3A<\/jats:italic> pre\u2010mRNA splicing.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>Genotypes comprising allele G of rs7804122 (GG or AG) were over\u2010represented in patients (48.74 vs. 24.8%; <jats:italic>p<\/jats:italic> = 0.0013) which indicated that the risk of HSCR was significantly higher among subjects with the GG or AG genotype than among the subjects with the AA genotype. No statistically significant associations were found for SNP rs797821 at the allele or genotype levels. The differences in genotypes and allele distributions of rs7804122 and rs797821 between various clinical classifications were not statistically significant. The novel heterozygous mutation (Chr7:83634610A\u2192T) 30bp away from an intron\/exon boundary, had no detectable effect on splicing efficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSION<\/jats:title><jats:p>Our results for rs7804122 provided preliminary evidence that the <jats:italic>SEMA3A<\/jats:italic> gene is involved in the susceptibility to HSCR in the Northeastern Chinese population. Birth Defects Research (Part A) 2012. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.22866","type":"journal-article","created":{"date-parts":[[2011,12,20]],"date-time":"2011-12-20T06:50:53Z","timestamp":1324363853000},"page":"91-95","source":"Crossref","is-referenced-by-count":13,"title":["<i>SEMA3A<\/i> rs7804122 polymorphism is associated with Hirschsprung disease in the Northeastern region of China"],"prefix":"10.1002","volume":"94","author":[{"given":"Li\u2013Li","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng\u2013hua","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia\u2010Ning","family":"Miao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Gu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tian\u2013Chu","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zheng\u2013Wei","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,12,20]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2007.02.020"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0893-351"},{"key":"e_1_2_6_4_1","unstructured":"ArnoldS GuyM KashukK et al.2008.Semaphorins as candidate genes in Hirschsprung Disease. 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