清丰红十字儿童医院
电话:13803931687
网址:www.ktwyy.com
地址:濮阳市清丰县朝阳路中医院西
300米
当前位置:首页 > 新闻动态

祝贺我院参与的又一论文发表


作者: 清丰红十字儿童医院 发布于:2016/9/21 10:56:11 点击量:

祝贺我院参与的又一论文发表

热烈祝贺我院程金山院长参与撰写的《增加人类发育性髋关节发育不良(DDH)风险的cx3cr1因子的多态性》论文在wileyonlinelibrary.com. 文章编号DOI 10.1002/jor.23294上发表。

CX3CR1 Polymorphisms Associated With an Increased Risk of Developmental Dysplasia of the Hip in Human

CX3CR1 基因多态性与人体髋关节发育不良的风险增加相关联

Lianyong Li,1 Xi Wang,2,3  Qun Zhao,1  Enbo Wang,1  Lili Wang4,  Jinshan Cheng,5  Lijun Zhang,1  Binbin Wang2,3

作者:李连勇,王希,赵群,王恩波,王丽丽,程金山,张力军,王彬彬

1Department of Pediatric Orthopedics, Shengjing Hospital of China Medical University, No. 36 Sanhao Street, Heping District, Shenyang 110004, China, 2Graduate School of Peking Union Medical College, Beijing 100730, China, 3National Research Institute for Family Planning, 12 Dahuisi Road, Haidian, Beijing 100081, China, 4Key laboratory of Health Ministry for Congenital Malformation, Shengjing Hospital of China Medical University, Shenyang 110004, China, 5Department of Pediatric Orthopedics, Red Cross Childrens Hospital of Qingfeng, Qingfeng County, Henan 457300, China

作者工作单位及地址:

1、中国医科大学附属盛京医院小儿骨科,地址:辽宁省沈阳市和平区三好街36号,邮编:1100042、北京协和医学院研究生院,邮编:1007303、国家计划生育研究所,北京海淀区大慧寺路12号,邮编:1000814、中国医科大学附属盛京医院的卫生部小儿先天畸形重点实验室,邮编:1100045 河南清丰县红十字儿童医院小儿骨科,邮编:457300

ABSTRACT: Developmental dysplasia of the hip, also termed congenital hip dislocation, is one of the major causes of children disability and early onset osteoarthritis. Previous study has identified a variant of CX3CR1 underlying this disorder in a large family. However, genetic evidence from population was still lacking. Here, we performed a case-control association study by genotyping two SNPs of CX3CR1, rs3732378, and rs3732379, in 689 unrelated hip dislocation patients and 689 normal controls. Genotyping results showed significant difference in genotype distributions of both two polymorphisms (p¼0.003 for rs3732378 and p¼0.017 for rs3732379). The minor allele frequency of rs3732378 was higher in cases (4.79%) than in controls (2.47%), predisposing carriers to hip dislocation with a 2.25-fold risk (OR¼2.25, 95%CI 1.423.56) after adjustment for gender. Another SNP, rs3732379, was also significantly associated with an increased risk of hip dislocation (adjusted OR¼1.84, 95%CI 1.192.84). Through the population study, we demonstrated that CX3CR1 was candidate for the pathogenesis of the disorder, and identied rs3732378 and rs3732379 as susceptibility loci instead of disease-causing mutations.  2016 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res

简介:发育性髋关节发育不良(DDH),亦称先天性髋关节脱臼,是导致儿童残疾和早期骨关节炎的主要原因之一。先前研究已经发现CX3CR1的一种变体,它潜藏在很大人群范围内,但是目前缺乏种群遗传证据。因此,本文进行了相关案例对比研究。即通过基因分型方式分析了CX3CR1的两种单核苷酸多态性(编号rs3732378 rs3732379)。本文研究了689位无关联的髋关节脱位患者(实验组)和689位正常人(控制组)。基因分型结果表明了两个多态性基因型分布的显著差异。(p¼0.003 for rs3732378 and p¼0.017 for rs3732379).

患者组中rs3732378类型的次要等位基因频率(4.79%) 要比控制组的频率(2.47%)高。它们成为髋关节脱位基因的易感载体的可能性,在经过性别调整策略后,增加了2.25(OR¼2.25, 95%CI 1.423.56) 。另一种单核苷酸多态性rs3732379,也与髋脱位风险的增加显著相关(调整后adjusted OR¼1.84, 95%CI 1.192.84)。通过人群研究我们发现,CX3CR1因子是这种疾病的潜在发病原因。被标记为rs3732378 rs3732379易感基因位点,而不是(先前研究说的)疾病引起的突变。……




上一篇:祝贺我院程相军院长当选河南省小儿肢体畸形防治专业委员会常委

下一篇:祝贺我院程相军院长当选河南省残疾人康复协会儿童矫形康复专业委员会委员