Association of genetic variation of the RIL gene, encoding a PDZ-LIM domain protein and localized in 5q31.1, with low bone mineral density in adult Japanese women

J Hum Genet. 2003;48(7):342-5. doi: 10.1007/s10038-003-0035-1. Epub 2003 Jun 6.

Abstract

Twin and family studies had shown that genetic factors are important determinants of bone mass. Multiple genes might be involved. One candidate gene, the reversion-induced LIM gene ( RIL), is a PDZ and LIM-domain-containing protein and has been localized within the cytokine cluster of chromosome 5 (5q31.1). In a genetic study of 370 adult Japanese women, we investigated the correlation between radial bone mineral density (BMD) and a genetic variation (-3333T-->C) of the 5'-flanking region of RIL gene. A significant association was identified between the RIL variation -3333T-->C and radial BMD ( r=0.15, P=0.003). The variation of the RIL locus may be an important determinant of osteoporosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Bone Density*
  • China
  • Chromosomes, Human, Pair 5*
  • DNA-Binding Proteins / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Genotype
  • Humans
  • Japan
  • LIM Domain Proteins
  • Middle Aged
  • Osteoporosis / genetics
  • Polymorphism, Single Nucleotide*
  • Protein Structure, Tertiary

Substances

  • DNA-Binding Proteins
  • LIM Domain Proteins
  • PDLIM4 protein, human