Phldb1-KO Mouse

Phldb1, encoding pleckstrin homology-like domain family B member-1 protein, has a role in insulin-dependent Akt phosphorylation [3]. Its genetic variations may be associated with multiple diseases, indicating its importance in understanding disease-related biological processes. Genetic models can help clarify the role of its polymorphisms in disease susceptibility.

Research has shown that in the Korean population, the rs67307131 SNP in Phldb1 was significantly associated with non-functional pituitary adenoma (NFPA) [1]. A meta-analysis indicated that the rs498872 polymorphism in Phldb1 was associated with an increased risk of glioma [2]. Biallelic frameshift variants in Phldb1 were identified in families with a novel, mild-type, autosomal recessive osteogenesis imperfecta, and decreased Phldb1 mRNA expression levels were detected in relevant samples [3]. In a Chinese population, the rs7389T/G polymorphism of Phldb1 was related to systemic lupus erythematosus (SLE) susceptibility, with the G allele related to an increased level of TNF-α [4]. In the Chinese Han population, the rs17748 polymorphism of Phldb1 was associated with breast cancer susceptibility in a stratified analysis [5]. In a Chinese Han cohort, the Phldb1 rs7389 G/T genotype was associated with a higher IgA nephropathy risk in females [6]. In a Chinese Han population case-control study, the variant TT genotype of Phldb1 rs498872 decreased glioblastoma (GBM) risk in the recessive model [7]. In the Portuguese population, the GA genotype of the rs498872 (Phldb1) was associated with an increased risk of gliomas and glioblastomas, and the genotype AA was associated with poor overall survival of gliomas patients [8].

In conclusion, Phldb1 is involved in insulin-dependent Akt phosphorylation and its genetic variations are associated with multiple diseases such as NFPA, glioma, osteogenesis imperfecta, SLE, breast cancer, IgA nephropathy, and glioblastoma. Research on Phldb1 genetic models contributes to understanding the susceptibility and prognosis of these diseases, providing insights into the underlying biological mechanisms.