Variation analysis of theTMEM150B gene in Chinese women with premature ovarian insufficiency

Abstract

The TMEM150B gene, which promotes cell survival under stress conditions by modulating autophagy, is closely associated with age at natural menopause, early menopause and premature ovarian insufficiency (POI) in European women. However, whether gene variants of TMEM150B contribute to the pathogenesis of POI needs to be determined. A case-control genetic study in 408 Han Chinese women with non-syndromic POI, in which all exons and exon-intron boundaries of the TMEM150B gene were screened by Sanger sequencing; the results were analysed by statistics and bioinformatics. Two novel variants located in the 3' untranslated region of the TMEM150B gene were identified, but bioinformation analyses showed that neither was potentially disease-causing. Six known single-nucleotide polymorphisms (SNP) were found, and they were not potentially causative for POI. The intronic SNP rs11668344 was also detected in the POI patients; no significant differences were found in either genotype or allele frequencies compared with the control population. The results suggest that the perturbations in the TMEM150B gene are not a common explanation for POI in Chinese women. The role of autophagy in the pathogenic mechanism of POI needs further exploration.