APOE haplotypes influence bone mineral density in Caucasian males but not females.
Low bone mineral density (BMD) is one of the most important risk factors for osteoporosis. Apolipoprotein E (APOE) has been considered as a candidate gene for osteoporosis because of its influence on osteoblast uptake of lipoprotein-borne vitamin K. Using the quantitative transmission disequilibrium test QTDT, we examined linkage and/or association of APOE and BMD at the lumbar spine and the total hip in a sample of 387 Caucasian nuclear families with 715 parents and 953 children. The children were aged 20-50 years and female offspring were premenopausal as well. Four single nucleotide polymorphisms (SNP1-4) in the APOE gene, 4-locus haplotypes and 2-locus haplotypes (epsilon1, epsilon2, epsilon3, epsilon4 isoforms, reconstructed by SNP3 and SNP4) were analyzed. In the whole sample and the female offspring families we found no evidence of linkage or association for either single SNP or haplotype with BMD at the two studied skeletal sites. In the male offspring families, within-family associations were observed at the haplotypes CGTC (P = 0.001), GGTT (P = 0.002), and GATC (P = 0.006) for the lumbar spine BMD, and GATC (P = 0.008) for the total hip BMD. These data suggested that in our studied Caucasian population, APOE may have effects on BMD variation in males but not females. Further studies with a larger sample size are required to confirm such results.
Long
Ji-Rong
JR
Osteoporosis Research Center, Creighton University, Omaha, NE 68131, USA.
Liu
Peng-Yuan
PY
Liu
Yong-Jun
YJ
Lu
Yan
Y
Shen
Hui
H
Zhao
Lan-Juan
LJ
Xiong
Dong-Hai
DH
Deng
Hong-Wen
HW
D015502:Absorptiometry, Photon; D000328:Adult; D001057:Apolipoproteins E / Q000235:genetics*; D015519:Bone Density / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009679:Nuclear Family; D010024:Osteoporosis / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D017697:Premenopause; D012737:Sex Factors; D044465:White People / Q000235:genetics*
D001057:Apolipoproteins E