Variations of the COL1A1 gene promoter and the relation to developmental dysplasia of the hip.
OBJECTIVE
Developmental dysplasia of the hip (DDH) is one of the most common hip deformities in children. Since the COL1A1 gene is located in the DDH relating region, we investigated the COL1A1 promoter variations in the development of DDH.


RESULTS
We collected 154 unrelated female patients and 180 matched healthy female children, and then sequenced the COL1A1 gene promoter for detection of variations. Three variations in the COL1A1 gene promoter were detected in ten patients (T-139C, C-106T, and C-35T [rs113647555]), but none of the 180 health controls. The chi-square test showed that the rate of total variations in COL1A1 gene contributed to DDH (p=0.0016).


CONCLUSIONS
We detected three variations in the COL1A1 gene promoter in patients and first demonstrated that the higher rate of total variations of COL1A1 gene contributed to DDH in Chinese female children; thus, the COL1A1 gene is a new candidate gene for DDH disease.
1 Graduate School of Peking Union Medical College , Beijing, China .
Lixi
L
Zhao
Wei
W
Tian
Hong
H
Pan
Xiaomei
X
Zhu
Jing
J
Wang
Zhi
Z
Cheng
Longfei
L
Cheng
Xu
X
Ma
Binbin
B
Wang
D044466:Asian People; D001483:Base Sequence; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D014644:Genetic Variation; D006618:Hip Dislocation, Congenital / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics*
D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain