Depression is a disease with a significant global social burden. Single nucleotide polymorphisms (SNPs) are correlated with the development of depression. This study investigates the relationship between polymorphisms in the GPHN and ATP6V1D gene promoter regions and susceptibility to depression in the Chinese population.

To provide new insights into identifying SNPs for predicting depression in the Chinese population.

We conducted a case-control study involving 555 individuals with depression and 509 healthy controls. GPHN rs8020095 and ATP6V1D rs3759755, rs10144417, rs2031564, and rs8016024 in the promoter region were genotyped using next-generation sequencing. Dual luciferase reporter genes were employed to assess the transcriptional activity of promoter regions for each SNP genotype, with transcription factors binding to each site predicted using the JASPAR database.

Compared to healthy controls, the ATP6V1D promoter rs10144417 AG genotype (P = 0.015), rs3759755 AC/CC genotype (P = 0.036), and GPHN gene rs8020095 GA and AA genotypes (GA: P = 0.028, GG: P = 0.025) were significantly associated with a lower prevalence of depression. Linked disequilibria were present in five SNPs, with the AGATA haplotype frequency in patients significantly lower than in healthy subjects (P = 0.023). Luciferase activity of the rs3759755-A recombinant plasmid was significantly higher than that of the rs3759755-C recombinant plasmid (P = 0.026), and the rs8020095-A recombinant plasmid activity was significantly higher than that of the rs8020095-G recombinant plasmid (P = 0.001). Transcription factors orthodenticle homeobox 2, orthodenticle homeobox 1, forkhead box L1, NK homeobox 3-1, and nuclear factor, interleukin 3 regulated demonstrated binding affinity with rs3759755A > C and rs8020095A > G.

This study demonstrates that SNPs (rs3759755 and rs10144417) in the promoter region of the ATP6V1D and SNP (rs8020095) of GPHN are indeed associated with susceptibility to depression.

Postpartum depression (PPD) is a common illness in mothers after childbirth. PPD negatively affect the mother's quality of life and the bond with the infant, which can interfere with the infant's emotional, social, and cognitive development. PPD is caused by various biological and psychosocial factors. The aim of this review is to summarize the latest evidence of the associations between genetic polymorphisms and PPD. PubMed and Scopus were used as the literature search databases for this review. The keywords used were postpartum depression, postnatal depression, genetic, and polymorphism. Twenty-seven articles were reviewed after screening and applying the inclusion criteria. As results, the serotonin gene (5-HTTLPR) and oxytocin genes (OXTR) have the most significant associations with PPD among other genes. Further research on PPD biomarkers should be conducted to diagnose and treat PPD patients.

The increasing incidence of disrupted lactogenesis in Asian populations underscores the importance of timely identification and efficient intervention. This study acknowledges the influence of ethnicity on genetic variations and aims to investigate the genetic mechanisms that contribute to lactogenesis in individuals of Asian descent. This study examines the possibilities of genetic screening as a means of applying preventive measures, with a particular focus on epigenetic techniques. Additionally, the analysis looks into the underlying mechanisms involved in milk production. This review discusses the intricate mechanisms underlying breast milk production and the potential influence of genetic variables on lactogenesis. Specifically, it explores the association between lactogenesis issues and genetic conditions such as depression, obesity, gestational hypertension, and gestational diabetes. These genetic factors could potentially be found by genetic screening as contributors to disruption in lactogenesis. This study aims to promote future investigation in the subject of genetic testing and its potential association with lactogenesis issues, despite the current scarcity of direct research on this topic. The statement posits that the progress made in genetic testing has the potential to provide novel insights into the timely identification and treatment of disrupted lactogenesis.