Aims/Introduction Emerging evidence suggests that expression quantitative trait loci (eQTLs) are more likely to associate with complex diseases. Transient receptor potential cation channel subfamily M member 5 (TRPM5) is a ubiquitously expressed voltage‐gated cation channel that acts indispensably to trigger insulin secretion in pancreatic β‐cells. The present study evaluated the association between TRPM5 eQTL single‐nucleotide polymorphisms and the risk of gestational diabetes mellitus (GDM) in a Chinese population. Materials and Methods A total of 380 unrelated Chinese pregnant women including 241 GDM patients and 139 controls were included in this study. The eQTL single‐nucleotide polymorphisms of TRPM5 were obtained from the GTEx eQTL Browser, and were subsequently genotyped using the Agena MassARRAY iPLEX platform. Results Logistic regression analysis and linear regression analysis showed that rs35197079 and rs74848824 were significantly associated with reduced GDM risk and lower fasting plasma glucose levels after adjusting confounder factors in dominant genetic models. Stratification analysis based on pre‐pregnancy body mass index validated a strong association between rs35197079 and GDM susceptibility in underweight and normal weight individuals. Luciferase and electrophoretic mobility shift assays carried out in rat pancreatic β‐cells showed that rs35197079 was functional. Conclusions The TRPM5 eQTL single‐nucleotide polymorphism rs35197079 was associated with decreased GDM susceptibility in a Chinese population, especially in underweight and normal weight pregnant women, and it was functional in modulating gene transcription.

<b><i>Background:</i></b> Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by one or more mutations in the G6PD gene on chromosome X. This study aimed to characterize the G6PD gene variant distribution in Shenzhen of Guangdong province. <b><i>Methods:</i></b> A total of 33,562 individuals were selected at the hospital for retrospective analysis, of which 1,213 cases with enzymatic activity-confirmed G6PD deficiency were screened for G6PD gene variants. Amplification refractory mutation system PCR was first used to screen the 6 dominant mutants in the Chinese population (c.1376G&#x3e;T, c.1388G&#x3e;A, c.95A&#x3e;G, c.1024C&#x3e;T, c.392G&#x3e;T, and c.871G&#x3e;A). If the 6 hotspot variants were not found, next-generation sequencing was then performed. Finally, Sanger sequencing was used to verify all the mutations. <b><i>Results:</i></b> The incidence of G6PD deficiency in this study was 3.54%. A total of 26 kinds of mutants were found in the coding region, except for c.-8-624T&#x3e;C, which was in the noncoding region. c.1376G&#x3e;T and c.1388G&#x3e;A, both located in exon 12, were the top 2 mutants, accounting for 68.43% of all individuals. The 6 hotspot mutations had a cumulative proportion of 94.02%. <b><i>Conclusions:</i></b> This study provided detailed characteristics of G6PD gene variants in Shenzhen, and the results would be valuable to enrich the knowledge of G6PD deficiency.

Purpose: To describe the longitudinal structural changes of myopic traction maculopathy (MTM) based on optical coherence tomography (OCT) and to detect biomarkers in the evolution of MTM.Methods: A retrospective study was conducted on patients with MTM as defined by OCT. A minimum follow-up of 6 months was necessary for study inclusion. The effects of comprehensive OCT-based structure on the evolution of MTM, the progression rates, and resolution rates of MTM were evaluated.Results: A total of 120 eyes (120 patients) were included with an average follow-up of 15.4 months. During the follow-up, MTM progressed in 32 eyes (26.67%). The most common pattern of progression observed was the increased extent of retinoschisis in 12 eyes. The multivariate analysis showed that the presence of MTM progression had a significant correlation with internal limiting membrane (ILM) detachment and retinoschisis involved the entire macula at baseline. Five eyes (4.17%) experienced MTM resolution, of which 2 eyes developed disruptions of detached ILM, two eyes developed disruptions of epiretinal membrane, and one eye developed partial posterior vitreous detachment. Eyes with foveal detachment showed the highest progression rate (41.67%) and highest resolution rate (16.67%) compared to the eyes with other foveal complications.Conclusion: ILM detachment is a risk factor for MTM progression and MTM resolution can occur after ILM disruption. These suggest that ILM may play an important role as a biomarker in the evolution of MTM.