Fig 2: AR was identified as the common transcription factor of STON1 and FSHR and positively correlated with STON1 and FSHR expression in ovary tissues. The top 20 transcription factors for the region of the rs13405728 locus (Chr2: 48478159-49478159) (A) STON1 (B) and FSHR (C), regulatory potential (RP) represented the score to estimate how likely the TF could regulate the gene. Y-axis is the RP score, X-axis is different factors. Dots in the X-axis represent the same factors. ChIP-Seq peaks of AR in STON1 (D) and FSHR (E) from androgen receptor programming of human tissues (GSE56288 and GSE70079). Correlation analysis between the expression of AR and STON1, AR and FSHR (F) in ovary tissues from GTEx dataset. (G) IHC staining of Ar, Fshr, and STON1 in normal mice and high-fat diet and testosterone-treated mice. AR, androgen receptor; GTEx, Genotype-Tissue Expression; H+T, high-fat diet and testosterone-treated.

Fig 3: Expression analysis between the rs13405728 locus and potential target genes. (A) Cis-eQTL analysis of potential target genes around the rs13405728 locus region (+/- 10Mb region) from 12 tissues, the color bar is shown. (B) Gene expression in PCOS patients and normal patients from the GSE145461 dataset. (C) Fshr expression in ovarian cell clusters from ovary single-cell sequencing data. 14 clusters are shown. (D) IHC staining of Fshr in C57BL/6 ovary tissue. (E) Fshr expression of ovarian granulosa cells in PCOS patients and normal patients from GSE114419 and GSE138518 datasets. (F) Single-tissue eQTL analysis of STON1 and FSHR at the rs13405728 locus from normal ovary tissue. PCOS, polycystic ovary syndrome; eQTL, expression quantitative trait loci.