[Relationship of collagen type I alpha 1 and alpha 2 gene polymorphisms with bone mineral density].
OBJECTIVE
To investigate collagen type I alpha 1 (COL1A1) and alpha 2 (COL1A2) gene polymorphisms in Chinese and their relationship with bone mineral density.


METHODS
Totalling 628 residents of Han nationality in Guangzhou aged 53.4-15.9 (range 20-79) years were surveyed for COL1A1 and COL1A2 gene genotypes by polymerase chain reaction-restriction fragment length polymorphism. Bone mineral density of the lumbar vertebrae, greater trochanter, femur neck and Ward's triangle was measured by dual-energy X-ray absorptiometry.


RESULTS
COL1A1 Sp1 polymorphism was not found in these subjects, and the genotype of all samples were type SS. COL1A2 genotyping revealed the distribution of EE genotype in 49.7%, Ee in 40.9% and ee in 9.4% of the subjects. The frequency distribution of EcoR1 alleles followed the Hardy-Weinberg equilibrium. The mean bone mineral density did no significantly differ among these genotype groups (P>0.05 by analysis of variance).


CONCLUSIONS
COL1A1 Sp1 binding site polymorphism is absent and COL1A2 EcoR1 site polymorphism is not associated with bone mineral density in Chinese of Han nationality.
Li
Dong-feng
DF
Research Center of Medical Sciences, Guangdong Provincial People's Hospital, Guangzhou 510080, China. xxkldfxjx@163.com
Wu
Wen
W
Cai
Xue-zhen
XZ
Yang
Yan-hong
YH
Lin
Kai
K
Huang
Xiao-sui
XS
Dong
Ting
T
Zhi
Xi-mei
XM
D000328:Adult; D000368:Aged; D015519:Bone Density; D002681:China; D003094:Collagen / Q000235:genetics*; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008159:Lumbar Vertebrae / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
C000716127:COL1A1 protein, human; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D003094:Collagen