A rare variant in the MARVELD2 gene is associated with Chinese samples with ovarian endometriosis

Objectives: Endometriosis is a common gynecological disease affecting up to ~10% of women at reproductive age. Prior combined studies implied that MARVELD2 might be involved in the pathogenesis of certain malignancies. Here, 211 Han Chinese samples with ovarian endometriosis were analyzed for the presence ofMARVELD2 mutations. Methods: We analyze the potential presence ofMARVELD2 mutations by direct DNA sequencing. Results: A total of 7 variants, 5 missense and 2 synonymous variants, were identified in our 211 ovarian endometriosis samples with different frequencies. Among the 5 missense variant, a missense rare variant p.V198M (c.592G>A), was identified in 10 out of our 211 samples (4.74%). This rare variant was identified with extremely low frequency in 766 control samples from 766 Chinese women without endometriosis (0.13%, 1/766) and control samples in the public databases. The evolutionary conservation analysis results suggested that theMARVELD2 rare variant lead to highly conserved amino acid substitutions among 14 vertebrate species from Human to Snake. Furthermore, both the SIFT and Polyphen-2 programs predicted this rare variant to be ‘disease causing’. However, we failed to observe any statistical significance between the MARVELD2 rare variant and the available clinical data. Conclusions: We identified a potential pathogenic rare variant in the MARVELD2 gene in Chinese samples with ovarian endometriosis, indicating theMARVELD2 rare variant might play an active role in the pathogenesis of endometriosis.