Single nucleotide polymorphism (SNP) in genes of lupus: A Philippine study (SIGLA-PH)

Eight SNPs were found to be associated with the development of SLE among Filipinos. Similar to previous genetic studies in lupus patients, majority of the SNPs were found in the major histocompatibilty complex genes in the HLA region. Our study identified two unique SNPs that will be validated as potential diagnostic markers for SLE. The findings of this study may contribute to the development of a polygenic risk score in determining susceptibility to SLE among Filipinos.

The Novel Phosphatase Domain Mutations Q171R and Y65S Switch PTEN from Tumor Suppressor to Oncogene

Phosphatase and tensin homolog deleted on chromosome 10, or PTEN, is a well-characterized tumor suppressor with both lipid and protein phosphatase activities. PTEN is often downregulated by epigenetic mechanisms such as hypermethylation, which leads to constitutive activation of the PI3K–Akt pathway.