{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:57:33Z","timestamp":1790776653338,"version":"4.1.0"},"reference-count":37,"publisher":"SAGE Publications","issue":"9","license":[{"start":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T00:00:00Z","timestamp":1762732800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["No. 81600849"],"award-info":[{"award-number":["No. 81600849"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["No.82170919"],"award-info":[{"award-number":["No.82170919"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012542","name":"Sichuan Provincial Science and Technology Support Program","doi-asserted-by":"publisher","award":["2024NSFSC0649"],"award-info":[{"award-number":["2024NSFSC0649"]}],"id":[{"id":"10.13039\/100012542","id-type":"DOI","asserted-by":"publisher"}]},{"name":"the Research and Develop Program, West China Hospital of Stomatology, Sichuan University","award":["No. RD-03-202301"],"award-info":[{"award-number":["No. RD-03-202301"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      This study aimed to explore the relationship between the\n                      <jats:italic toggle=\"yes\">SPRY2<\/jats:italic>\n                      gene and nonsyndromic orofacial cleft (NSOC) in the Chinese Han population.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>A case\u2013control study was conducted with a large cohort to analyze genetic associations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Setting<\/jats:title>\n                    <jats:p>The study was conducted in China, focusing on the Chinese Han ethnic group.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients, Participants<\/jats:title>\n                    <jats:p>The study included 2494 Chinese Han patients with NSOC and 2255 healthy control individuals.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interventions<\/jats:title>\n                    <jats:p>\n                      Nine single-nucleotide polymorphisms (SNPs) of the\n                      <jats:italic toggle=\"yes\">SPRY2<\/jats:italic>\n                      gene were selected for association analysis, utilizing PLINK and Haploview software. Functional annotations were conducted using HaploReg, Encode, and 3D SNP prediction tools.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Main Outcome Measure(s)<\/jats:title>\n                    <jats:p>The primary outcome measures were the associations of the selected SNPs with different types of NSOC, including nonsyndromic cleft lip with palate (NSCLP), nonsyndromic cleft lip with\/without palate (NSCL\/P), and nonsyndromic cleft palate only (NSCPO).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Allelic association analysis revealed that allele T of rs700397 significantly increased the risk of NSCLP (\n                      <jats:italic toggle=\"yes\">P<\/jats:italic>\n                      \u2009=\u2009.00050, odds ratio [OR] = 1.49, 95% confidence interval [CI]: 1.19-1.85) and NSCL\/P (\n                      <jats:italic toggle=\"yes\">P<\/jats:italic>\n                      \u2009=\u2009.0018, OR = 1.27, 95% CI: 1.09-1.47). Additionally, allele G of rs116994696 was associated with NSCPO (\n                      <jats:italic toggle=\"yes\">P<\/jats:italic>\n                      \u2009=\u2009.00024, OR = 1.67, 95% CI: 1.27-2.17). Four haplotypes demonstrated a significant association with NSCPO after Bonferroni correction.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      The findings suggest that SNP rs700397 in the\n                      <jats:italic toggle=\"yes\">SPRY2<\/jats:italic>\n                      enhancer is associated with NSCLP and NSCL\/P, while rs116994696 in the promoter is linked to NSCPO. This indicates that susceptibility SNPs in different regulatory elements may play a role in gene regulation related to NSOC.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/10556656251393169","type":"journal-article","created":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T17:36:22Z","timestamp":1762796182000},"page":"2826-2833","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Investigating\n                    <i>SPRY2<\/i>\n                    Single-Nucleotide Polymorphisms in the Etiology of Nonsyndromic Orofacial Cleft in the Chinese Han Population"],"prefix":"10.1177","volume":"63","author":[{"given":"Meng Xi","family":"Yang","sequence":"first","affiliation":[{"name":"West China School of Stomatology, Sichuan University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shi Jun","family":"Duan","sequence":"additional","affiliation":[{"name":"West China School of Stomatology, Sichuan University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-4574-6619","authenticated-orcid":false,"given":"Sixuan","family":"Jia","sequence":"additional","affiliation":[{"name":"West China School of Stomatology, Sichuan University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing","family":"Shi","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases and National Clinical Research Center for Oral Diseases, Department of Cleft lip and Palate Surgery, West China School of Stomatology, Sichuan University, Chengdu, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0129-0367","authenticated-orcid":false,"given":"Zhong Lin","family":"Jia","sequence":"additional","affiliation":[{"name":"West China School of Stomatology, Sichuan University"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,11,10]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(09)60695-4"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2933"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1008357"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.3290\/j.cjdr.b5128515"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1177\/00220345231165210"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/odi.14210"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.947126"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms14759"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/s0092-8674(00)80919-8"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0010064"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.580"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2360"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms7414"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1177\/10556656221125392"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1177\/0022034517719865"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/em.21773"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36802"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1177\/0022034518801537"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijerph16040557"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.19723\/j.issn.1671-167X.2019.03.028"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.5114\/aoms.2012.28812"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.4178\/epih.e2024069"},{"key":"e_1_3_3_24_2","doi-asserted-by":"publisher","DOI":"10.3389\/fpubh.2022.1008028"},{"key":"e_1_3_3_25_2","doi-asserted-by":"publisher","DOI":"10.17843\/rpmesp.2024.412.13558"},{"key":"e_1_3_3_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2024.02.004"},{"key":"e_1_3_3_27_2","doi-asserted-by":"publisher","DOI":"10.1159\/000337464"},{"key":"e_1_3_3_28_2","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.24238"},{"key":"e_1_3_3_29_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mod.2007.06.007"},{"key":"e_1_3_3_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2010.12.116"},{"key":"e_1_3_3_31_2","doi-asserted-by":"publisher","DOI":"10.1016\/s0925-4773(01)00526-3"},{"key":"e_1_3_3_32_2","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.049611"},{"key":"e_1_3_3_33_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36912"},{"key":"e_1_3_3_34_2","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms14364"},{"key":"e_1_3_3_35_2","doi-asserted-by":"publisher","DOI":"10.3389\/fbioe.2021.829136"},{"key":"e_1_3_3_36_2","doi-asserted-by":"publisher","DOI":"10.1002\/tox.23789"},{"key":"e_1_3_3_37_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-022-05876-7"},{"key":"e_1_3_3_38_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gep.2016.05.002"}],"container-title":["The Cleft Palate Craniofacial Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10556656251393169","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/10556656251393169","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10556656251393169","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:12:38Z","timestamp":1790773958000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/10556656251393169"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,10]]},"references-count":37,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["10.1177\/10556656251393169"],"URL":"https:\/\/doi.org\/10.1177\/10556656251393169","relation":{},"ISSN":["1055-6656","1545-1569"],"issn-type":[{"value":"1055-6656","type":"print"},{"value":"1545-1569","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,10]]}}}