Sex-specific association of the glucocorticoid receptor gene with extreme BMD. J Bone Miner Res 2008 Feb;23(2):247-52
Date
10/17/2007Pubmed ID
17937535Pubmed Central ID
PMC2665695DOI
10.1359/jbmr.071017Scopus ID
2-s2.0-38549092629 (requires institutional sign-in at Scopus site) 16 CitationsAbstract
UNLABELLED: To study the role of the GR gene on BMD regulation in the Chinese, a sex-specific association study was performed. The results indicated that GR variation contributed to the extreme BMD variation in the Chinese.
INTRODUCTION: The glucocorticoid (GC) receptor (GR) gene is an important candidate gene for BMD regulation in GC-induced osteoporosis (GIO). However, no study has explored the genetic effects of the GR gene on BMD variation in the Chinese population.
MATERIALS AND METHODS: Our sample consisted of 800 unrelated subjects (400 women and 400 men) with extreme age-adjusted hip BMD Z-scores selected from a population composed of 1988 normal adult Chinese Han. Four single nucleotide polymorphisms (SNPs) in the GR gene were genotyped. Both single SNP and haplotype association analyses were conducted.
RESULTS: SNP rs1866388 (p(c) = 0.028) was found to be significantly associated with extreme BMD only in men. In both sexes, haplotypes involving rs1866388 and rs2918419 were found to have different frequency distributions in extremely low and high BMD groups (p(p) = 0.024, 0.001, and 0.002 in women and 0.002, 0.003, and 0.003 in men for window sizes of two, three, and four SNPs, respectively). Most shared haplotypes showed opposite effects between women and men.
CONCLUSIONS: For the first time, our study suggested the possible role of the GR gene on BMD regulation and sex specificity in the association of GR with extreme BMD in the Chinese.
Author List
Peng YM, Lei SF, Guo Y, Xiong DH, Yan H, Wang L, Guo YF, Deng HWMESH terms used to index this publication - Major topics in bold
AdultBone Density
China
Female
Gene Frequency
Genetic Variation
Haplotypes
Humans
Male
Polymorphism, Genetic
Receptors, Glucocorticoid
Sex Characteristics
Sex Distribution