Association of a polymorphism in the TNFR2 gene with low bone mineral density.
Previous genetic linkage data suggested that a gene on chromosome 1p36.2-36.3 might be linked to low bone mineral density (BMD). Here, we examine the gene for tumor necrosis factor receptor 2 (TNFR2), a candidate gene within that interval, for association with low BMD in a group of 159 unrelated individuals. We assess two polymorphic sites within the gene, a microsatellite repeat within intron 4, and a three-nucleotide variation in the 3' untranslated region (UTR) of the gene. The latter has five alleles of which the rarest allele is associated with low spinal BMD Z score (p = 0.008). Lowest mean spinal BMD Z scores were observed for individuals having genotypes that were heterozygous for the rarest allele. No homozygotes for the rarest allele were observed. Preliminary analysis suggests that there is a difference in the genotype frequency distribution between the group with low BMD and a control group.
Spotila
L D
LD
Department of Bioscience and Biotechnology, Drexel University, Philadelphia, Pennsylvania, USA.
Rodriguez
H
H
Koch
M
M
Adams
K
K
Caminis
J
J
Tenenhouse
H S
HS
Tenenhouse
A
A
D020413:3' Untranslated Regions / Q000235:genetics; D000483:Alleles; D015703:Antigens, CD / Q000235:genetics*; D001483:Base Sequence; D015519:Bone Density / Q000235:genetics*; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D005260:Female; D005269:Femur; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007438:Introns; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D010024:Osteoporosis / Q000235:genetics*; D011110:Polymorphism, Genetic; D018124:Receptors, Tumor Necrosis Factor / Q000235:genetics*; D047889:Receptors, Tumor Necrosis Factor, Type II; D013131:Spine
D020413:3' Untranslated Regions; D015703:Antigens, CD; D018124:Receptors, Tumor Necrosis Factor; D047889:Receptors, Tumor Necrosis Factor, Type II