Novel single-nucleotide polymorphisms of LHX8 gene in Korean women with premature ovarian insufficiency

LHX8 (LIM homeobox 8) is a germ cell-specific transcription factor that is crucial for folliculogenesis in the ovary and represents a candidate gene for premature ovarian insufficiency. We analyzed whether mutations in the LHX8 gene in 96 Korean women with premature ovarian insufficiency. The sequence analysis identified four known SNPs included one synonymous and three intronic variants and discovered three novel single-nucleotide polymorphisms in intron 4 (c.114+99C>A), intron 4 (c.114+100C>A) and intron 6 (c.390+77C>G) of the LHX8 gene. These polymorphisms were also found in controls at frequencies that were not statistically significant. Functional mutations in LHX8 gene are rare in Korean women with premature ovarian insufficiency.