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Association between MKRN3 and LIN28B polymorphisms and precocious puberty

Bo Ram Yi1, Hyun Jeong Kim1, Hye Sook Park2

  • 1College of Pharmacy, Chungbuk National University, 660-1, Yeonje-ri, Osong-eup, Heungdeok-gu, Cheongju-si, 28160, Republic of Korea.

BMC Genetics
|July 29, 2018
PubMed

Insights

Genetic variations in the MKRN3 gene, specifically SNP rs12441827, are linked to an increased risk of precocious puberty in Korean boys. This finding contributes to understanding the genetic factors influencing early puberty onset.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Precocious puberty is a condition characterized by early onset of puberty.
  • Genetic factors play a role in the development of precocious puberty.

Purpose of the Study:

  • To investigate the association between specific gene polymorphisms (MKRN3 and LIN28B) and precocious puberty in Korean children.
  • To identify genetic markers that may predict the risk of precocious puberty.

Main Methods:

  • The study analyzed single nucleotide polymorphisms (SNPs) in the MKRN3 and LIN28B genes in a cohort of Korean children.
  • Logistic regression and eQTL analyses were performed to assess the association between SNPs and precocious puberty.

Main Results:

  • Three MKRN3 SNPs (rs2239669, rs6576457, and rs12441827) showed significant associations with precocious puberty in Korean boys.
  • Boys with the TT genotype at rs12441827 had a four-fold increased risk of precocious puberty compared to C allele carriers.
  • No significant associations were found in girls or through eQTL analysis.

Conclusions:

  • The MKRN3 SNP rs12441827 is associated with precocious puberty in Korean boys.
  • This finding highlights the role of specific genetic variations in early puberty and suggests complex gene-environment interactions.
Abstract

Keywords:
Lin-28 homolog BMakorin RING finger protein 3Precocious pubertySingle nucleotide polymorphism

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