Variations of the COL1A1 Gene Promoter and the Relation to Developmental Dysplasia of the Hip

被引：19

作者：

Zhao, Lixi ^{[1
,2
]}

Tian, Wei ^{[3
,4
]}

Pan, Hong ^{[1
,2
]}

Zhu, Xiaomei ^{[1
,2
]}

Wang, Jing ^{[1
,2
]}

Cheng, Zhi ^{[1
,2
]}

Cheng, Longfei ^{[1
,2
]}

Ma, Xu ^{[1
,2
,5
]}

Wang, Binbin ^{[1
,2
]}

机构：

[1] Peking Union Med Coll, Grad Sch, Beijing 100021, Peoples R China

[2] Natl Res Inst Family Planning, Ctr Genet, Beijing 100081, Peoples R China

[3] Tianjin Hosp, Dept Orthoped Trauma, Tianjin, Peoples R China

[4] Tianjin & Huabei Oil Field Hosp, Tianjin, Hebei, Peoples R China

[5] World Hlth Org Collaborating Ctr Res Human Reprod, Beijing, Peoples R China

来源：

GENETIC TESTING AND MOLECULAR BIOMARKERS | 2013年 / 17卷 / 11期

关键词：

SP3 TRANSCRIPTION FACTORS; I COLLAGEN EXPRESSION; NECROSIS-FACTOR-ALPHA; OSTEOARTHRITIS; FIBROBLASTS; BINDING; REGION; CELLS;

D O I：

10.1089/gtmb.2013.0179

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Aim: 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). Conclusion: 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.

引用

页码：840 / 843

页数：4

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