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Genes & Genomics

, Volume 35, Issue 1, pp 69–75 | Cite as

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

  • Kyung-Won Hong
  • Cheong-Sik Kim
  • Haesook Min
  • Seon-Joo Park
  • Jae Kyung Park
  • Younjhin Ahn
  • Sung Soo Kim
  • Yeonjung KimEmail author
Research Article

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

GWAS Age at menarche Replication KARE KoGES ReproGen consortium 

Notes

Acknowledgments

This work was supported by the Korean Genome Analysis Project (4845-301) and the KoGES (4851-302), funded by the Ministry for Health and Welfare, Republic of Korea.

Conflict of interest

There are no conflicts of interests.

Supplementary material

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

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Copyright information

© The Genetics Society of Korea 2013

Authors and Affiliations

  • Kyung-Won Hong
    • 1
  • Cheong-Sik Kim
    • 1
  • Haesook Min
    • 1
  • Seon-Joo Park
    • 1
  • Jae Kyung Park
    • 1
  • Younjhin Ahn
    • 1
  • Sung Soo Kim
    • 1
  • Yeonjung Kim
    • 1
    Email author
  1. 1.Division of Epidemiology and Health Index, Center for Genome ScienceKorea Center for Disease Control and PreventionCheongwon-gunSouth Korea

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