The notable GWAS studies in Chinese populations have essentially offered several loci mapping to DENND1A, THADA, LHCGR, FSHR, INSR, TOX3, YAP1, RAB5B
, c9orf3, HMGA2, and SUMO1P1/ZNF217 involved in steroidogenesis, gonadotropin action and regulation, follicular development, insulin signaling and type 2 diabetes mellitus (T2DM), calcium signaling, and endocytosis [147,148].
Stenmark, "Direct interaction of EEA1 with Rab5b
," European Journal of Biochemistry, vol.
The first GWAS and subsequent follow-up performed on Han Chinese populations identified the following PCOS candidate loci: DENND1A, INSR, YAP1, C9orf3, RAB5B, HMGA2, TOX3, SUMO1P1/ZNF217, THADA, follicle-stimulating hormone receptor (FSHR), luteinizing hormone/choriogonadotropin receptor (LHCGR) (6,7).
rs705702 is located at 12q13.2 between the RAB5B and SUOX genes.
To conclude, our study has, for the first time, described an association between SNPs in RAB5B and PCOS risk in a group composed of Han individuals of Xi'an China.
The small GTPases Rab5a, Rab5b and Rab5c are differentially phosphorylated in vitro.