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ORIGINAL ARTICLE
Korean J Pediatr 2012 October;55(10) :388-392.
Published online 2012 October 15.        doi:https://doi.org/10.3345/kjp.2012.55.10.388
LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls
Sung Won Park (Park SW)1, Seung-Tae Lee (Lee ST)2,3, Young Bae Shon (Shon YB)4, Sung Yoon Cho (Cho SY)1, Se-Hwa Kim (Kim SH)1, Su Jin Kim (Kim SJ)4, Chi Hwa Kim (Kim CH)5, Ah-Ra Ko (Ko AR)5, Kyung-Hoon Paik (Paik KH)1, Jong-Won Kim (Kim JW)2,3, Dong-Kyu Jin (Jin DK)1
1Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
2,3Departments of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea Center for Genome Research, Samsung Biomedical Research Institute, Seoul, Korea
4Center for Pediatric Oncology, National Cancer Center, Goyang, Korea
5Clinical Research Center, Samsung Biomedical Research Institute, Seoul, Korea
Corresponding Author: Dong-Kyu Jin ,Tel: +82-2-3410-3525, Fax: +82-2-3410-0043, Email: jindk@smc.samsung.co.kr
Copyright © 2012 by The Korean Pediatric Society
ABSTRACT
Purpose: Single-nucleotide polymorphism (SNP) markers within LIN28B have been reported to be related to the timing of pubertal growth. However, no study has investigated the frequency of genetic markers in girls with precocious puberty (PP) or early puberty (EP). This study aimed to determine the frequency of putative genetic markers in girls with PP or EP. Methods: Genomic DNAs were obtained from 77 and 109 girls that fulfilled the criteria for PP and EP, respectively. The controls in this study were 144 healthy volunteers between 20 and 30 years of age. The haplotypes were reconstructed using 11 SNPs of LIN28B, and haplotype association analysis was performed. The haplotype frequencies were compared. Differences in the clinical and laboratory parameters were analyzed according to the haplotype dosage. Results: Eleven SNPs in LIN28B were all located in a block that was in linkage disequilibrium. The haplotype could be reconstructed using 2 representative SNPs, rs4946651 and rs369065. The AC haplotype was less frequently observed in the PP group than in the controls (0.069 vs. 0.144, P=0.010). The trend that girls with non-AC haplotypes tended to have earlier puberty onset (P=0.037) was illustrated even in the EP+PP patient group by Kaplan-Meier analysis. Conclusion: The results of the present study showed that non-AC haplotypes of LIN28Bhad a significant association with PP in girls.
Keywords: Single-nucleotide polymorphism | Human LIN28 homolog B | Precocious puberty
 
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