rs118156955 - RPL23AP28 - PAX3

Magnitude 4.5 · 1 study on file

Reported associations

• Genetic factors of idiopathic central precocious puberty and their polygenic risk in early puberty. - European journal of endocrinology (2021) · Lin WD, Cheng CF, Wang CH, Liang WM, Chen CH, Hsieh AR, Chiu ML, Lin TH, Liao CC, Huang SM, Tsai CH, Chang CY, Lin YJ, Tsai FJ · PubMed 34288885

  To investigate the genetic characteristics of idiopathic central precocious puberty (ICPP) and validate its polygenic risk for early puberty. A bootstrap subsampling and genome-wide association study were performed on Taiwanese Han Chinese girls comprising 321 ICPP patients and 148 controls. Using previous GWAS data on pubertal timing, a replication study was performed. A validation group was also investigated for the weighted polygenic risk score (wPRS) of the risk of early puberty. A total of 105 SNPs for the risk of ICPP were identified, of which 22 yielded an area under the receiver operating characteristic curve of 0.713 for the risk of early puberty in the validation group. A replication study showed that 33 SNPs from previous GWAS data of pubertal timing were associated with the ris

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