Association between COL1A1 gene polymorphisms and bone size in Caucasians.
Bone size is an important determinant of bone strength and a risk factor of osteoporotic fracture. Several studies indicate that bone size has a high heritability. Thus, a better understanding of genetic factors regulating bone size might have important clinical implications. In the present study, we examined the relationship between the collagen type I alpha 1 (COL1A1) gene and bone size at the spine, hip and wrist in a sample of 1873 subjects of Caucasian origin from 405 nuclear families. Three single-nucleotide polymorphisms (SNPs) in the COL1A1 gene were analyzed. The minor allele frequencies were 15.4, 18.8, and 1.9% for SNP1, SNP2, and SNP3, respectively. Haplotypes were reconstructed based on the family information as well as marker genotypes using the program Genehunter. We did not find evidence of population stratification, within-family association, or linkage for either single SNPs or haplotypes at any skeletal site. Suggestive evidence of total association was observed for the wrist size at SNP2 (P=0.011). After adjusting age, sex, height, and weight, subjects with the T allele of SNP2 had, on average, 3.05% smaller wrist size than noncarriers. When the subjects were divided into families with only female offspring and families with male offspring only, similar total associations were found at the wrist size for SNP2 with P-values of 0.011 and 0.010, respectively. In conclusion, the COL1A1 gene may have some effects on bone size variation at the wrist, but not at the spine or hip in our Caucasian nuclear families.
Long
Ji-Rong
JR
Osteoporosis Research Center, Creighton University, Omaha, NE 68131, USA.
Liu
Peng-Yuan
PY
Lu
Yan
Y
Xiong
Dong-Hai
DH
Zhao
Lan-Juan
LJ
Zhang
Yuan-Yuan
YY
Elze
Leo
L
Recker
Robert R
RR
Deng
Hong-Wen
HW
D000328:Adult; D001827:Body Height / Q000502:physiology; D001835:Body Weight / Q000502:physiology; D001842:Bone and Bones / Q000502:physiology*; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006615:Hip / Q000502:physiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009679:Nuclear Family; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D013131:Spine / Q000502:physiology; D044465:White People / Q000235:genetics*; D014953:Wrist / Q000502:physiology
C000716127:COL1A1 protein, human; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain