{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,18]],"date-time":"2026-07-18T23:12:54Z","timestamp":1784416374873,"version":"3.55.0"},"reference-count":66,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,12,21]],"date-time":"2021-12-21T00:00:00Z","timestamp":1640044800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81970969"],"award-info":[{"award-number":["81970969"]}],"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":["81830031"],"award-info":[{"award-number":["81830031"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004608","name":"Natural Science Foundation of Jiangsu Province","doi-asserted-by":"publisher","award":["BL2014073"],"award-info":[{"award-number":["BL2014073"]}],"id":[{"id":"10.13039\/501100004608","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004608","name":"Natural Science Foundation of Jiangsu Province","doi-asserted-by":"publisher","award":["15KJA320002"],"award-info":[{"award-number":["15KJA320002"]}],"id":[{"id":"10.13039\/501100004608","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Premolar agenesis is a common subtype of tooth agenesis. Although a genome\u2010wide study (GWAS) has identified some variants involved in tooth agenesis in Europeans, the genetic mutation related to premolar agenesis in the Chinese population remains unclear.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and methods<\/jats:title>\n                    <jats:p>\n                      We present a GWAS in 218 premolar agenesis cases and 1,222 controls using the Illumina Infinium\n                      <jats:sup>\u00ae<\/jats:sup>\n                      Global Screening Array. 5,585,618\u00a0single nucleotide polymorphisms (SNPs) were used for tests of associations with premolar agenesis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Four independent SNPs on chromosome 2 were identified as susceptibility loci, including rs147680216, rs79743039, rs60540881, and rs6738629. The genome\u2010wide significant SNP rs147680216 (\n                      <jats:italic>p<\/jats:italic>\n                      \u00a0=\u00a06.09\u00a0\u00d7\u00a010\n                      <jats:sup>\u22129<\/jats:sup>\n                      ) was predicted to change the structure of the WNT10A protein and interact with hedgehog signaling pathway components. Meta\u2010analysis showed that the rs147680216 A allele significantly increased the risk of tooth agenesis (\n                      <jats:italic>p<\/jats:italic>\n                      \u00a0=\u00a00.000). The other three SNPs with nominal significance are novel susceptibility loci. Of them, rs6738629 (\n                      <jats:italic>p<\/jats:italic>\n                      \u00a0=\u00a05.40\u00a0\u00d7\u00a010\n                      <jats:sup>\u22126<\/jats:sup>\n                      ) acts as a potential transcriptional regulator of\n                      <jats:italic>GCC2<\/jats:italic>\n                      , a gene playing a putative role in dental and craniofacial development.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our GWAS indicates that rs147680216 and additional three novel susceptibility loci on chromosome 2 are associated with the risk of premolar agenesis in the Chinese population.<\/jats:p>\n                  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