Potential effect of inter-genic action on peak bone mass (PBM) in Chinese females

Yi Chuan Xue Bao. 2005 Oct;32(10):1003-10.

Abstract

Peak bone mass (PBM) is a complex trait, determined by both genetic and environmental factors and also their interactions. Vitamin D receptor (VDR) estrogen receptor alpha (ERalpha), interleukin 6 (IL6), parathyroid hormone (PTH), collagen type I alpha 2 (COL1A2), bone Gla protein (BGP), alpha2-HS glycoprotein (AHSG) are among the important candidate genes of bone metabolism. The study aims to detect significant effect of potential inter-genic action underlying PBM in Chinese females. 361 unrelated healthy premenopausal Chinese females (aged 20 -44 years) with Han ethnicity were recruited from the Shanghai city in China. Bone mineral density (BMD) at the hip and the lumbar spine (L1-4) was measured using a Hologic QDR 2000 + dual-energy X-ray absorptiometry (DXA) scanner. Eight polymorphisms among the seven genes were genotyped, i. e. Apa I in VDR, Pvu II and Xba I in ERa (ERX and ERP, respectively), BsrB I in IL6, BstB I in PTH, Msp I in COL1A2, Hind III in BGP, and Sac I in AHSG, using PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) methods. Two-way analysis of variance (ANOVA) showed significant effects of IL6 x ERP interaction on PBM at the total hip (P = 0.019), intertrochanter (P = 0.016), and femoral neck (P =0. 019). The BMD difference between GGPp carriers and GGpp subjects (at these two loci) amounted to 18.0%, 19.5%, and 14.8% at the hip,intertrochanter,and femoral neck,respectively. The potential interaction effect of AHSG x IL6 was observed on femoral neck PBM (P = 0.046). GGSS individuals (at these two loci) had, on average, 18.8% higher femoral neck BMD than those subjects with GGSs genotype. The population-level statistical analysis indicates that IL6 x ERP and AHSG x IL6 have significant inter-genic effect on the genetic determination of PBM in Chinese females.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Absorptiometry, Photon
  • Adult
  • Alleles
  • Asian People / genetics*
  • Blood Proteins / genetics*
  • Bone Density / genetics*
  • China
  • Collagen / genetics
  • Collagen Type I
  • Estrogen Receptor alpha / genetics
  • Female
  • Femur / diagnostic imaging
  • Femur / metabolism
  • Gene Frequency
  • Genotype
  • Humans
  • Interleukin-6 / genetics
  • Lumbar Vertebrae / diagnostic imaging
  • Lumbar Vertebrae / metabolism
  • Osteocalcin / genetics
  • Parathyroid Hormone / genetics
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length
  • Receptors, Calcitriol / genetics
  • Young Adult
  • alpha-2-HS-Glycoprotein

Substances

  • AHSG protein, human
  • Blood Proteins
  • Collagen Type I
  • Estrogen Receptor alpha
  • Interleukin-6
  • Parathyroid Hormone
  • Receptors, Calcitriol
  • alpha-2-HS-Glycoprotein
  • Osteocalcin
  • Collagen