Daggag Hinda, Gjesing Anette P, Mohammad Alshafi, Ängquist Lars, Shobi Bindu, Antony Suma, Haj Dalia, Al Tikriti Alia, Buckley Adam, Hansen Torben, Barakat Maha T
Research Institute, Imperial College London Diabetes Centre (ICLDC), Abu Dhabi, United Arab Emirates.
Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Metabol Open. 2022 Nov 7;16:100213. doi: 10.1016/j.metop.2022.100213. eCollection 2022 Dec.
To investigate the prevalence of pathogenic variants in monogenic diabetes genes in Emirati women with gestational diabetes (GDM) and examine the risk of developing hyperglycemia during follow-up in carriers and non-carriers.
Female patients with GDM (n = 370) were identified. Selected monogenic diabetes genes, , , , , , and were examined by sequencing and identified variants were classified. Anthropometrics and subsequent diagnosis of diabetes were extracted from hospital records. Median follow-up time was 6-years.
A total of 34 variants were detected. Seven women (2%) were carriers of pathogenic variants in , , , or . A significantly larger fraction of women carrying pathogenic variants were diagnosed with any form of hyperglycemia or diabetes postpartum (risk ratio = 1.8 (1.1-2.9), p = 0.02) or 2.5 (1.3-4.8; p = 0.009), respectively) and they had a shorter disease-free period after GDM compared to women without such variants. There were no significant associations between carrying pathogenic variants and anthropometric measures or C-peptide.
Pathogenic variants were found in known monogenic diabetes genes in two percent of Emirati women with GDM, allowing for precision medicine utilisation in these women both during and outside pregnancy. Carriers were at an increased risk of being diagnosed with hyperglycemia or type 2 diabetes mellitus within 5 years after pregnancy.
调查患有妊娠期糖尿病（GDM）的阿联酋女性中，单基因糖尿病基因的致病变异的患病率，并检查携带者和非携带者在随访期间发生高血糖的风险。
确定了患有GDM的女性患者（n = 370）。通过测序检查选定的单基因糖尿病基因， 、 、 、 、 、 和 ，并对鉴定出的变异进行分类。从医院记录中提取人体测量数据和随后的糖尿病诊断结果。中位随访时间为6年。
共检测到34个变异。7名女性（2%）是 、 、 、 或 中致病变异的携带者。携带致病变异的女性中，有显著更多比例的人在产后被诊断出患有任何形式的高血糖或糖尿病（风险比分别为1.8（1.1 - 2.9），p = 0.02）或2.5（1.3 - 4.8；p = 0.009），并且与没有此类变异的女性相比，她们在GDM后的无病期更短。携带致病变异与人体测量指标或C肽之间没有显著关联。
在2%的患有GDM的阿联酋女性中，在已知的单基因糖尿病基因中发现了致病变异，这使得在这些女性孕期及产后都能利用精准医学。携带者在产后5年内被诊断出患有高血糖或2型糖尿病的风险增加。
