{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T17:55:32Z","timestamp":1792173332022,"version":"4.4.0"},"reference-count":46,"publisher":"Korean Diabetes Association","issue":"1","license":[{"start":{"date-parts":[[2024,9,20]],"date-time":"2024-09-20T00:00:00Z","timestamp":1726790400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"RGC Theme-based Research Scheme","award":["T12-402\/13 N"],"award-info":[{"award-number":["T12-402\/13 N"]}]},{"name":"Research Impact Fund","award":["R4012-18"],"award-info":[{"award-number":["R4012-18"]}]},{"name":"University Grants Committee Research Grants Matching Scheme"},{"name":"Council of the Hong Kong SAR","award":["473408"],"award-info":[{"award-number":["473408"]}]},{"name":"Council of the Hong Kong SAR","award":["471713"],"award-info":[{"award-number":["471713"]}]},{"name":"Council of the Hong Kong SAR","award":["14118718"],"award-info":[{"award-number":["14118718"]}]},{"name":"Council of the Hong Kong SAR","award":["14102719"],"award-info":[{"award-number":["14102719"]}]},{"name":"National Institute of Child Health and Human Development","award":["R01-HD34242"],"award-info":[{"award-number":["R01-HD34242"]}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"crossref","award":["R01-HD34243"],"award-info":[{"award-number":["R01-HD34243"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["e-dmj.org"],"crossmark-restriction":true},"short-container-title":["Diabetes Metab J"],"published-print":{"date-parts":[[2025,1,1]]},"abstract":"<jats:p>Background: The genetic basis for hyperglycaemia in pregnancy remain unclear. This study aimed to uncover the genetic determinants of gestational diabetes mellitus (GDM) and investigate their applications.Methods: We performed a meta-analysis of genome-wide association studies (GWAS) for GDM in Chinese women (464 cases and 1,217 controls), followed by de novo replications in an independent Chinese cohort (564 cases and 572 controls) and &lt;i&gt;in silico&lt;\/i&gt; replication in European (12,332 cases and 131,109 controls) and multi-ethnic populations (5,485 cases and 347,856 controls). A polygenic risk score (PRS) was derived based on the identified variants.Results: Using the genome-wide scan and candidate gene approaches, we identified four susceptibility loci for GDM. These included three previously reported loci for GDM and type 2 diabetes mellitus (T2DM) at &lt;i&gt;MTNR1B&lt;\/i&gt; (rs7945617, odds ratio [OR], 1.64; 95% confidence interval [CI], 1.38 to 1.96), &lt;i&gt;CDKAL1&lt;\/i&gt; (rs7754840, OR, 1.33; 95% CI, 1.13 to 1.58), and &lt;i&gt;INS-IGF2-KCNQ1&lt;\/i&gt; (rs2237897, OR, 1.48; 95% CI, 1.23 to 1.79), as well as a novel genome-wide significant locus near &lt;i&gt;TBR1-SLC4A10&lt;\/i&gt; (rs117781972, OR, 2.05; 95% CI, 1.61 to 2.62; &lt;i&gt;P&lt;sub&gt;meta&lt;\/sub&gt;&lt;\/i&gt;=7.6\u00d710&lt;sup&gt;-9&lt;\/sup&gt;), which has not been previously reported in GWAS for T2DM or glycaemic traits. Moreover, we found that women with a high PRS (top quintile) had over threefold (95% CI, 2.30 to 4.09; &lt;i&gt;P&lt;sub&gt;meta&lt;\/sub&gt;&lt;\/i&gt;=3.1\u00d710&lt;sup&gt;-14&lt;\/sup&gt;) and 71% (95% CI, 1.08 to 2.71; &lt;i&gt;P&lt;\/i&gt;=0.0220) higher risk for GDM and abnormal glucose tolerance post-pregnancy, respectively, compared to other individuals.Conclusion: Our results indicate that the genetic architecture of glucose metabolism exhibits both similarities and differences between the pregnant and non-pregnant states. Integrating genetic information can facilitate identification of pregnant women at a higher risk of developing GDM or later diabetes.<\/jats:p>","DOI":"10.4093\/dmj.2024.0139","type":"journal-article","created":{"date-parts":[[2024,9,20]],"date-time":"2024-09-20T08:19:31Z","timestamp":1726820371000},"page":"128-143","update-policy":"https:\/\/doi.org\/10.4093\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Identification and Potential Clinical Utility of Common Genetic Variants in Gestational Diabetes among Chinese Pregnant Women"],"prefix":"10.4093","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9169-0013","authenticated-orcid":true,"given":"Claudia Ha-ting","family":"Tam","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chi Chiu","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lai Yuk","family":"Yuen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cadmon King-poo","family":"Lim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junhong","family":"Leng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex Chi-wai","family":"Ng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong","family":"Hou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kit Ying","family":"Tsoi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Risa","family":"Ozaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert Martin","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingqing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana Chung-ngor","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan Chou","family":"Ye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wing Hung","family":"Tam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9462-7992","authenticated-orcid":true,"given":"Xilin","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1227-803X","authenticated-orcid":true,"given":"Ronald Ching-wan","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2567","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.diabres.2021.109050"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa0707943"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.m1361"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-018-4809-6"},{"key":"ref5","first-page":"372","volume-title":"Hyperglycemia and Adverse Pregnancy Outcome Follow-up Study (HAPO FUS): maternal gestational diabetes mellitus and childhood glucose metabolism","author":"Lowe","year":"2019"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.2337\/dc16-2397"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007\/s11892-020-01355-3"},{"key":"ref8","first-page":"3377","volume-title":"Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes","author":"Pervjakova","year":"2022"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-023-01607-4"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2022.955821"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1111\/cen.13356"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0121029"},{"key":"ref13","volume-title":"Antenatal treatment of gestational diabetes and offspring\u2019s future cardiometabolic risk","author":"Tam"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ijo.0803389"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2020.499788"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.2337\/dc09-1848"},{"key":"ref17","first-page":"S19","volume-title":"2","author":"ElSayed","year":"2023"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.2337\/db11-1034"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.3390\/genes13122255"},{"key":"ref20","first-page":"560","volume-title":"Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation","author":"Mahajan","year":"2022"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0126408"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0128901"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1038\/ng.207"},{"key":"ref24","first-page":"3101","volume-title":"Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX\/IDE are associated with decreased pancreatic beta-cell function","author":"Pascoe","year":"2007"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1038\/ng.288"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1126\/science.1142364"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0049055"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1172\/jci58056"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1038\/hr.2016.12"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2011.03.083"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms5954"},{"key":"ref32","first-page":"14279","volume-title":"Functional characterization of TBR1 variants in neurodevelopmental disorder","author":"den Hoed","year":"2018"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0705487105"},{"key":"ref34","first-page":"2098","volume-title":"Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function","author":"Davies","year":"2018"},{"key":"ref35","first-page":"502","volume-title":"Mapping genomic loci implicates genes and synaptic biology in schizophrenia","author":"Trubetskoy","year":"2022"},{"key":"ref36","doi-asserted-by":"publisher","DOI":"10.1007\/s10519-022-10127-6"},{"key":"ref37","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2015.2707"},{"key":"ref38","first-page":"1412","volume-title":"Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits","author":"Evangelou","year":"2018"},{"key":"ref39","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-021-00931-x"},{"key":"ref40","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-022-35553-2"},{"key":"ref41","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2019.09.035"},{"key":"ref42","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2021.628582"},{"key":"ref43","doi-asserted-by":"publisher","DOI":"10.2337\/db18-0203"},{"key":"ref44","doi-asserted-by":"publisher","DOI":"10.1007\/s00592-020-01485-w"},{"key":"ref45","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-018-4637-8"},{"key":"ref46","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-65360-y"}],"container-title":["Diabetes &amp; Metabolism Journal"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/e-dmj.org\/upload\/pdf\/dmj-2024-0139.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/e-dmj.org\/journal\/view.php?doi=10.4093\/dmj.2024.0139","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/e-dmj.org\/upload\/pdf\/dmj-2024-0139.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,15]],"date-time":"2025-01-15T05:59:22Z","timestamp":1736920762000},"score":1,"resource":{"primary":{"URL":"http:\/\/e-dmj.org\/journal\/view.php?doi=10.4093\/dmj.2024.0139"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,1]]},"references-count":46,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"URL":"https:\/\/doi.org\/10.4093\/dmj.2024.0139","relation":{},"ISSN":["2233-6079","2233-6087"],"issn-type":[{"value":"2233-6079","type":"print"},{"value":"2233-6087","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,1]]},"assertion":[{"value":"2024-03-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-20","order":2,"name":"published","label":"Published online","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-01","order":3,"name":"published","label":"Print publication","group":{"name":"publication_history","label":"Publication History"}}]}}