Genes & Genomics

, Volume 35, Issue 1, pp 69–75

Replication of genomewide association studies on age at menarche in the Korean population

Authors

  • Kyung-Won Hong
    • Division of Epidemiology and Health Index, Center for Genome ScienceKorea Center for Disease Control and Prevention
  • Cheong-Sik Kim
    • Division of Epidemiology and Health Index, Center for Genome ScienceKorea Center for Disease Control and Prevention
  • Haesook Min
    • Division of Epidemiology and Health Index, Center for Genome ScienceKorea Center for Disease Control and Prevention
  • Seon-Joo Park
    • Division of Epidemiology and Health Index, Center for Genome ScienceKorea Center for Disease Control and Prevention
  • Jae Kyung Park
    • Division of Epidemiology and Health Index, Center for Genome ScienceKorea Center for Disease Control and Prevention
  • Younjhin Ahn
    • Division of Epidemiology and Health Index, Center for Genome ScienceKorea Center for Disease Control and Prevention
  • Sung Soo Kim
    • Division of Epidemiology and Health Index, Center for Genome ScienceKorea Center for Disease Control and Prevention
    • Division of Epidemiology and Health Index, Center for Genome ScienceKorea Center for Disease Control and Prevention
Research Article

DOI: 10.1007/s13258-013-0060-1

Cite this article as:
Hong, K., Kim, C., Min, H. et al. Genes Genom (2013) 35: 69. doi:10.1007/s13258-013-0060-1

Abstract

Early menarche is associated with adverse health outcomes, including breast cancer, endometrial cancer, obesity, type 2 diabetes, and cardiovascular disease. Recently, a genomewide association study (GWAS) of age at menarche (AAM) in 104,533 individuals of European ancestry was reported by the ReproGen consortium. They identified 42 loci known and novel loci that were linked to age at menarche. Because age at menarche varies between ethnic groups, we decided to investigate if these results would be replicated in the Korean population. To this end, we examined the association of the SNPs reported in the ReproGen GWAS with AAM in 3,194 individuals from the Korean Genome and Epidemiology Study (KoGES) cohort. Genotype data for total 17 SNPs (6 genotyped SNPs and 11 imputed SNPs) were available for the association analysis using linear regression analysis for age at menarche with controlling current age, waist-to-hip ratio, and body mass index as the covariates. We found replication of the ReproGen study in two SNPs; one SNP (rs466639) in the retinoic acid receptor gamma gene (RXRG), showing a significant association with early menarche (beta = −0.224 ± 0.065, p value = 5.2 × 10−4, Bonferroni-corrected p value = 0.009), and the other (rs10899489), in GRB2 (growth factor receptor bound protein 2)-associated binding protein 2 (GAB2), linked to late menarche (beta = 0.140 ± 0.047, p value = 2.8 × 10−3, Bonferroni-corrected p value = 0.049). This result possibly suggests that genetic factors governing AAM in the Korean population would be distinct from those in the Europeans, implying roles of modulating or interacting factors in determining AAM, including environmental factors such as nutritional status.

Keywords

GWASAge at menarcheReplicationKAREKoGESReproGen consortium

Supplementary material

13258_2013_60_MOESM1_ESM.doc (12 kb)
Supplementary material 1 (DOC 12 kb)

Copyright information

© The Genetics Society of Korea 2013