{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T15:43:11Z","timestamp":1758814991350},"reference-count":10,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2008,5,1]],"date-time":"2008-05-01T00:00:00Z","timestamp":1209600000000},"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":[[2008,6]]},"abstract":"Abstract<\/jats:title>BACKGROUND<\/jats:title>Recent findings suggest that a specific haplotype, including five single nucleotide polymorphisms (SNPs) in the 3\u2032\u2010terminal region of the estrogen receptor \u03b1 gene (ESR1<\/jats:italic>), is associated with the risk for cryptorchidism, but results have been conflicting in different populations. The goal of this study was to further define the association between this specific ESR1<\/jats:italic> haplotype and the risk for nonsyndromic cryptorchidism in a multiracial American population including Caucasian, African American, and Asian American subjects.<\/jats:p><\/jats:sec>METHODS<\/jats:title>Applied Biosystems TaqMan SNP Genotyping Assays were used to identify the genotypes of the five SNPs in ESR1<\/jats:italic> in 152 nonsyndromic cryptorchidism cases and 160 healthy controls.<\/jats:p><\/jats:sec>RESULTS<\/jats:title>For the five SNPs, there were no significant differences in genotype frequencies between cases and controls. The four estimated haplotypes at the 3\u2032 region of ESR1<\/jats:italic> gene were also not associated with the occurrence of cryptorchidism, but the haplotype AGATC was associated with the severity of cryptorchidism. SNP12 (rs6932902) in ESR1<\/jats:italic> was not associated with cryptorchidism per se, but was associated with increasing severity of cryptorchidism. Severe cases were more likely to have GG genotype (93%) than moderate (54%) cases (p<\/jats:italic> = .04), and this association was in recessive mode (p<\/jats:italic> = .02). The allele distribution of this SNP was also significantly different between moderate and severe cases: 97% of severe cases had the G allele while only 76% of moderate cases had the G allele (p<\/jats:italic> = .03).<\/jats:p><\/jats:sec>CONCLUSIONS<\/jats:title>SNP12 in ESR1<\/jats:italic> is not associated with the occurrence of cryptorchidism but is associated with the severity of cryptorchidism. Birth Defects Research (Part A), 2008. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.20458","type":"journal-article","created":{"date-parts":[[2008,5,1]],"date-time":"2008-05-01T18:21:35Z","timestamp":1209666095000},"page":"482-485","source":"Crossref","is-referenced-by-count":17,"title":["Analysis of five single nucleotide polymorphisms in the ESR1<\/i> gene in cryptorchidism"],"prefix":"10.1002","volume":"82","author":[{"given":"Yanping","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Barthold","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ernesto","family":"Figueroa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricardo","family":"Gonz\u00e1lez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul H.","family":"Noh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miao","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeanne","family":"Manson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,6,2]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.141.12.4720"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/del391"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.18.2.259"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/edrv.22.3.0432"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.22.3.289"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/519795"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199410203311604"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1939-4640.2003.tb02654.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.reprotox.2004.12.015"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-0211"}],"container-title":["Birth Defects Research Part A: Clinical and Molecular Teratology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fbdra.20458","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdra.20458","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T20:00:38Z","timestamp":1699992038000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdra.20458"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,6]]},"references-count":10,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2008,6]]}},"alternative-id":["10.1002\/bdra.20458"],"URL":"https:\/\/doi.org\/10.1002\/bdra.20458","archive":["Portico"],"relation":{},"ISSN":["1542-0752","1542-0760"],"issn-type":[{"value":"1542-0752","type":"print"},{"value":"1542-0760","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,6]]}}}