{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T05:04:03Z","timestamp":1773896643092,"version":"3.50.1"},"reference-count":44,"publisher":"The Endocrine Society","issue":"11","license":[{"start":{"date-parts":[[2024,4,16]],"date-time":"2024-04-16T00:00:00Z","timestamp":1713225600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100004607","name":"Guangxi Natural Science Foundation of China","doi-asserted-by":"publisher","award":["2020GXNSFAA238025"],"award-info":[{"award-number":["2020GXNSFAA238025"]}],"id":[{"id":"10.13039\/501100004607","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Gestational diabetes mellitus (GDM) is a pregnancy-complicated disease that poses a risk to maternal and infant health. However, the etiology of the disease has been not yet elucidated.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>To detect the genetic susceptibility and construct a nomogram model with significantly associated polymorphisms and key clinical indicators for early prediction of GDM.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Eleven functional single nucleotide polymorphisms (SNPs) screened by genome-wide association study were genotyped in 554 GDM cases and 641 healthy controls. Functional analysis of GDM positively associated SNPs, multivariate mendelian randomization (MVMR), and a GDM early predictive nomogram model construction were performed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Result<\/jats:title>\n                  <jats:p>rs1965211, rs3760675, and rs7814359 were significantly associated with genetic susceptibility to GDM after adjusting age and prepregnancy body mass index (pre-BMI). It seems that GDM-associated SNPs have effects on regulating target gene transcription factor binding, posttranscriptional splicing, and translation product structure. Besides, rs3760675 can be expression quantitative trait loci and increase the XAB2 mRNA expression level (P = .047). The MVMR analysis showed that the increase of clinical variables of BMI, hemoglobin A1c (HbA1c), and fasting plasma glucose (FPG) had significant causal effects on GDM (BMI-ORMVMR = 1.52, HbA1c-ORMVMR = 1.32, FPG-ORMVMR = 1.78), P &amp;lt; .05. A nomogram model constructed with pre-BMI, FPG, HbA1c, and genotypes of rs1965211, rs3760675, and rs7814359 showed an area under the receiver operating characteristic curve of 0.824.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Functional polymorphisms can change women's susceptibility to GDM and the predictive nomogram model based on genetic and environmental factors can effectively distinguish individuals with different GDM risks in early stages of pregnancy.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgae200","type":"journal-article","created":{"date-parts":[[2024,4,16]],"date-time":"2024-04-16T19:48:40Z","timestamp":1713296920000},"page":"2802-2814","source":"Crossref","is-referenced-by-count":7,"title":["Genetic Susceptibility, Mendelian Randomization, and Nomogram Model Construction of Gestational Diabetes Mellitus"],"prefix":"10.1210","volume":"109","author":[{"given":"Qiulian","family":"Liang","sequence":"first","affiliation":[{"name":"The Guangxi Key Laboratory of Environmental Exposomics and Entire Lifecycle Health, The School of Public Health, Guilin Medical University , Guilin 541000 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6000-8571","authenticated-orcid":false,"given":"Ming","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Histology and Embryology, School of Basic Medicine, Hunan University of Medicine , Hunan 418000 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gongchen","family":"Huang","sequence":"additional","affiliation":[{"name":"The Guangxi Key Laboratory of Environmental Exposomics and Entire Lifecycle Health, The School of Public Health, Guilin Medical University , Guilin 541000 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruiqi","family":"Li","sequence":"additional","affiliation":[{"name":"The Guangxi Key Laboratory of Environmental Exposomics and Entire Lifecycle Health, The School of Public Health, Guilin Medical University , Guilin 541000 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linyuan","family":"Qin","sequence":"additional","affiliation":[{"name":"The Guangxi Key Laboratory of Environmental Exposomics and Entire Lifecycle Health, The School of Public Health, Guilin Medical University , Guilin 541000 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ping","family":"Zhong","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, The Second Affiliated Hospital of Guilin Medical University , Guilin 541000 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0271-3699","authenticated-orcid":false,"given":"Xuekun","family":"Xing","sequence":"additional","affiliation":[{"name":"The Guangxi Key Laboratory of Environmental Exposomics and Entire Lifecycle Health, The School of Public Health, Guilin Medical University , Guilin 541000 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7675-4103","authenticated-orcid":false,"given":"Xiangyuan","family":"Yu","sequence":"additional","affiliation":[{"name":"The Guangxi Key Laboratory of Environmental Exposomics and Entire Lifecycle Health, The School of Public Health, Guilin Medical University , Guilin 541000 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2024,4,16]]},"reference":[{"issue":"Suppl 3","key":"2024101600045603300_dgae200-B1","doi-asserted-by":"crossref","first-page":"S173","DOI":"10.1016\/S0020-7292(15)30007-2","article-title":"The International Federation of Gynecology and Obstetrics (FIGO) initiative on gestational diabetes mellitus: a pragmatic guide for diagnosis, management, and care","volume":"131","author":"Hod","year":"2015","journal-title":"Int J Gynaecol Obstet"},{"issue":"2","key":"2024101600045603300_dgae200-B2","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1046\/j.1464-5491.2003.00985.x","article-title":"Epidemiology of gestational diabetes mellitus and its association with type 2 diabetes","volume":"21","author":"Ben-Haroush","year":"2004","journal-title":"Diabet Med"},{"key":"2024101600045603300_dgae200-B3","doi-asserted-by":"crossref","first-page":"109050","DOI":"10.1016\/j.diabres.2021.109050","article-title":"IDF diabetes atlas: estimation of global and regional gestational diabetes Mellitus prevalence for 2021 by International Association of Diabetes in pregnancy study Group's criteria","volume":"183","author":"Wang","year":"2022","journal-title":"Diabetes Res Clin Pract"},{"issue":"1","key":"2024101600045603300_dgae200-B4","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1111\/jdi.12854","article-title":"Prevalence of gestational diabetes mellitus in mainland China: a systematic review and meta-analysis","volume":"10","author":"Gao","year":"2019","journal-title":"J Diabetes Investig"},{"issue":"19","key":"2024101600045603300_dgae200-B5","doi-asserted-by":"crossref","first-page":"1991","DOI":"10.1056\/NEJMoa0707943","article-title":"Hyperglycemia and adverse pregnancy outcomes","volume":"358","author":"Metzger","year":"2008","journal-title":"N Engl J Med"},{"key":"2024101600045603300_dgae200-B6","doi-asserted-by":"crossref","first-page":"e067946","DOI":"10.1136\/bmj-2021-067946","article-title":"Gestational diabetes mellitus and adverse pregnancy outcomes: systematic review and meta-analysis","volume":"377","author":"Ye","year":"2022","journal-title":"Bmj"},{"issue":"9","key":"2024101600045603300_dgae200-B7","doi-asserted-by":"crossref","first-page":"2411","DOI":"10.1210\/clinem\/dgac373","article-title":"Long-Term follow-up on morbidity among women with a history of gestational diabetes Mellitus: a systematic review","volume":"107","author":"Flachs Madsen","year":"2022","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2024101600045603300_dgae200-B8","doi-asserted-by":"crossref","first-page":"3","DOI":"10.4093\/dmj.2021.0335","article-title":"Gestational diabetes Mellitus: diagnostic approaches and maternal-offspring complications","volume":"46","author":"Moon","year":"2022","journal-title":"Diabetes Metab J"},{"issue":"11","key":"2024101600045603300_dgae200-B9","doi-asserted-by":"crossref","first-page":"3342","DOI":"10.3390\/ijms19113342","article-title":"The pathophysiology of gestational diabetes Mellitus","volume":"19","author":"Plows","year":"2018","journal-title":"Int J Mol Sci"},{"issue":"1","key":"2024101600045603300_dgae200-B10","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/s12016-014-8461-8","article-title":"Clinical recommendations for the use of islet cell autoantibodies to distinguish autoimmune and non-autoimmune gestational diabetes","volume":"50","author":"Haller-Kikkatalo","year":"2016","journal-title":"Clin Rev Allergy Immunol"},{"key":"2024101600045603300_dgae200-B11","first-page":"100226","article-title":"Insulin secretory defect may be the major determinant of GDM in lean mothers","volume":"20","author":"Fakhrul-Alam","year":"2020","journal-title":"J Clin Transl Endocrinol"},{"issue":"8","key":"2024101600045603300_dgae200-B12","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1055\/a-1546-1652","article-title":"Gestational diabetes Mellitus: the genetic susceptibility behind the disease","volume":"53","author":"Wei","year":"2021","journal-title":"Horm Metab Res"},{"issue":"12","key":"2024101600045603300_dgae200-B13","doi-asserted-by":"crossref","first-page":"e0261137","DOI":"10.1371\/journal.pone.0261137","article-title":"Genetic risk factors associated with gestational diabetes in a multi-ethnic population","volume":"16","author":"Benny","year":"2021","journal-title":"PLoS One"},{"issue":"23","key":"2024101600045603300_dgae200-B14","doi-asserted-by":"crossref","first-page":"6841","DOI":"10.7150\/jca.47189","article-title":"Genetic fine mapping and genomic annotation defines causal mechanisms at A novel colorectal cancer susceptibility locus in han Chinese","volume":"11","author":"Jiang","year":"2020","journal-title":"J Cancer"},{"issue":"2","key":"2024101600045603300_dgae200-B15","first-page":"238","article-title":"Functional implications of single nucleotide polymorphisms (SNPs) in protein-coding and non-coding RNA genes in multifactorial diseases","volume":"153","author":"Ramirez-Bello","year":"2017","journal-title":"Gac Med Mex"},{"key":"2024101600045603300_dgae200-B16","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/978-1-60327-411-1_1","article-title":"SNPs: impact on gene function and phenotype","volume":"578","author":"Shastry","year":"2009","journal-title":"Methods Mol Biol"},{"key":"2024101600045603300_dgae200-B17","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1146\/annurev-biodatasci-122120-010010","article-title":"Functional characterization of genetic variant effects on expression","volume":"5","author":"Flynn","year":"2022","journal-title":"Annu Rev Biomed Data Sci"},{"issue":"2","key":"2024101600045603300_dgae200-B18","doi-asserted-by":"crossref","first-page":"531","DOI":"10.2337\/db11-1034","article-title":"A genome-wide association study of gestational diabetes mellitus in Korean women","volume":"61","author":"Kwak","year":"2012","journal-title":"Diabetes"},{"issue":"10","key":"2024101600045603300_dgae200-B19","doi-asserted-by":"crossref","first-page":"1557","DOI":"10.1080\/14767058.2019.1640205","article-title":"A genome-wide association study of gestational diabetes mellitus in Chinese women","volume":"34","author":"Wu","year":"2021","journal-title":"J Matern Fetal Neonatal Med"},{"issue":"19","key":"2024101600045603300_dgae200-B20","doi-asserted-by":"crossref","first-page":"3377","DOI":"10.1093\/hmg\/ddac050","article-title":"Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes","volume":"31","author":"Pervjakova","year":"2022","journal-title":"Hum Mol Genet"},{"issue":"3","key":"2024101600045603300_dgae200-B21","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1007\/s00438-017-1292-6","article-title":"Association of recently identified type 2 diabetes gene variants with Gestational Diabetes in Asian Indian population","volume":"292","author":"Kanthimathi","year":"2017","journal-title":"Mol Genet Genomics"},{"key":"2024101600045603300_dgae200-B22","doi-asserted-by":"crossref","first-page":"926512","DOI":"10.3389\/fendo.2022.926512","article-title":"Association and functional analysis of angiotensin-converting enzyme 2 genetic variants with the pathogenesis of pre-eclampsia","volume":"13","author":"Huang","year":"2022","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"10","key":"2024101600045603300_dgae200-B23","doi-asserted-by":"crossref","DOI":"10.1042\/BSR20211338","article-title":"Association between functional genetic variants in retinoid X receptor-alpha\/gamma and the risk of gestational diabetes mellitus in a southern Chinese population","volume":"41","author":"Yu","year":"2021","journal-title":"Biosci Rep"},{"key":"2024101600045603300_dgae200-B24","doi-asserted-by":"crossref","first-page":"722674","DOI":"10.3389\/fendo.2021.722674","article-title":"CDK5 regulatory subunit-associated protein 1-like 1 gene polymorphisms and gestational diabetes Mellitus risk: a trial sequential meta-analysis of 13,306 subjects","volume":"12","author":"Yu","year":"2021","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"12","key":"2024101600045603300_dgae200-B25","doi-asserted-by":"crossref","DOI":"10.1042\/BSR20190744","article-title":"A functional polymorphism rs10830963 in melatonin receptor 1B associated with the risk of gestational diabetes mellitus","volume":"39","author":"Huang","year":"2019","journal-title":"Biosci Rep"},{"issue":"8","key":"2024101600045603300_dgae200-B26","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1002\/sim.3034","article-title":"Mendelian randomization: using genes as instruments for making causal inferences in epidemiology","volume":"27","author":"Lawlor","year":"2008","journal-title":"Stat Med"},{"issue":"1","key":"2024101600045603300_dgae200-B27","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.cjca.2012.11.015","article-title":"Canadian journal of cardiology January 2013: genetics and more","volume":"29","author":"Nattel","year":"2013","journal-title":"Can J Cardiol"},{"issue":"10","key":"2024101600045603300_dgae200-B28","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1177\/0003319717696622","article-title":"Predictive nomogram of RAGE genetic polymorphisms and metabolic risk factors for myocardial infarction risk in a han Chinese population","volume":"68","author":"Li","year":"2017","journal-title":"Angiology"},{"issue":"3","key":"2024101600045603300_dgae200-B29","doi-asserted-by":"crossref","first-page":"676","DOI":"10.2337\/dc09-1848","article-title":"International association of diabetes and pregnancy study groups recommendations on the diagnosis and classification of hyperglycemia in pregnancy","volume":"33","author":"Metzger","year":"2010","journal-title":"Diabetes Care"},{"key":"2024101600045603300_dgae200-B30","doi-asserted-by":"crossref","unstructured":"Liang Q, Li M, Huang G, et al Supplementary material for \u201cGenetic Susceptibility, Mendelian randomization and Nomogram Model Construction of Gestational Diabetes Mellitus\u201d. Dryad. Deposited 8 March, 2024. 10.5061\/dryad.","DOI":"10.1210\/clinem\/dgae200"},{"issue":"Web Server issue","key":"2024101600045603300_dgae200-B31","doi-asserted-by":"crossref","first-page":"W600","DOI":"10.1093\/nar\/gkp290","article-title":"SNPinfo: integrating GWAS and candidate gene information into functional SNP selection for genetic association studies","volume":"37","author":"Xu","year":"2009","journal-title":"Nucleic Acids Res"},{"issue":"2","key":"2024101600045603300_dgae200-B32","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.gene.2005.07.015","article-title":"Characterization and prediction of alternative splice sites","volume":"366","author":"Wang","year":"2006","journal-title":"Gene"},{"issue":"6","key":"2024101600045603300_dgae200-B33","doi-asserted-by":"crossref","first-page":"709","DOI":"10.3390\/pathogens10060709","article-title":"Transcription factor HSF1 suppresses the expression of surfactant protein D in cells infected with Aspergillus fumigatus","volume":"10","author":"Kim","year":"2021","journal-title":"Pathogens"},{"issue":"4","key":"2024101600045603300_dgae200-B34","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"issue":"8","key":"2024101600045603300_dgae200-B35","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1007\/s10822-016-9944-x","article-title":"Azahar: a PyMOL plugin for construction, visualization and analysis of glycan molecules","volume":"30","author":"Arroyuelo","year":"2016","journal-title":"J Comput Aided Mol Des"},{"issue":"4","key":"2024101600045603300_dgae200-B36","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T))","volume":"25","author":"Livak","year":"2001","journal-title":"Method. Methods"},{"issue":"6","key":"2024101600045603300_dgae200-B37","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1093\/jnci\/djh075","article-title":"Assessing the probability that a positive report is false: an approach for molecular epidemiology studies","volume":"96","author":"Wacholder","year":"2004","journal-title":"J Natl Cancer Inst"},{"issue":"9","key":"2024101600045603300_dgae200-B38","doi-asserted-by":"crossref","first-page":"1783","DOI":"10.1007\/s00125-020-05198-1","article-title":"Metabolomic and genetic associations with insulin resistance in pregnancy","volume":"63","author":"Liu","year":"2020","journal-title":"Diabetologia"},{"key":"2024101600045603300_dgae200-B39","doi-asserted-by":"crossref","first-page":"690229","DOI":"10.3389\/fendo.2021.690229","article-title":"Maternal GALNT2 variations affect blood pressure, atherogenic Index, and fetal growth, depending on BMI in gestational diabetes Mellitus","volume":"12","author":"Guan","year":"2021","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"3","key":"2024101600045603300_dgae200-B40","first-page":"150","article-title":"Dyslipidemia in type 2 diabetes mellitus","volume":"5","author":"Mooradian","year":"2009","journal-title":"Nat Clin Pract Endocrinol Metab"},{"issue":"10","key":"2024101600045603300_dgae200-B41","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1111\/j.1467-789X.2011.00900.x","article-title":"Adipose tissue dysfunction and hypertriglyceridemia: mechanisms and management","volume":"12","author":"van de Woestijne","year":"2011","journal-title":"Obes Rev"},{"issue":"9","key":"2024101600045603300_dgae200-B42","doi-asserted-by":"crossref","first-page":"2253","DOI":"10.2337\/diacare.27.9.2253","article-title":"Lipids and glucose in type 2 diabetes: what is the cause and effect?","volume":"27","author":"Boden","year":"2004","journal-title":"Diabetes Care"},{"issue":"2 Suppl 1","key":"2024101600045603300_dgae200-B43","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/S0026-0495(00)80082-7","article-title":"Oxidative stress and glycemic regulation","volume":"49","author":"Ceriello","year":"2000","journal-title":"Metab Clin Exp"},{"issue":"4","key":"2024101600045603300_dgae200-B44","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1111\/j.1464-410X.2008.08073.x","article-title":"Can nomograms be superior to other prediction tools?","volume":"103","author":"Shariat","year":"2009","journal-title":"BJU Int"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcem\/advance-article-pdf\/doi\/10.1210\/clinem\/dgae200\/57273404\/dgae200.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcem\/article-pdf\/109\/11\/2802\/59765785\/dgae200.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcem\/article-pdf\/109\/11\/2802\/59765785\/dgae200.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,16]],"date-time":"2024-10-16T00:05:46Z","timestamp":1729037146000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/109\/11\/2802\/7646744"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,16]]},"references-count":44,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2024,4,16]]},"published-print":{"date-parts":[[2024,10,15]]}},"URL":"https:\/\/doi.org\/10.1210\/clinem\/dgae200","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,11]]},"published":{"date-parts":[[2024,4,16]]}}}