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在中国西南部汉族人群中,HIBCH基因和FTCDNL1基因的两个遗传变异与髋关节发育不良易感性相关。

Two genetic variants in the HIBCH and FTCDNL1 genes are associated with susceptibility to developmental dysplasia of the hips among the Han Chinese population of Southwest China.

作者信息

Meng Xu-Han, Weng Yu-Ting, Rao Yu, Xu Yong-Qing, Sun Hao, Li Chuan

机构信息

Department of Orthopaedic, 920th Hospital of Joint Logistics Support Force of Chinese People's Liberation Army, 212 Daguan Road, Xishan District, Kunming, 650032, Yunnan, China.

Department of Urology, Enze Hospital, Taizhou Enze Medical Center (Group), Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Affiliate to Hangzhou Medical College, Taizhou, 318000, Zhejiang, China.

出版信息

J Orthop Surg Res. 2024 Aug 7;19(1):464. doi: 10.1186/s13018-024-04958-8.

Abstract

BACKGROUND

Developmental dysplasia of the hip (DDH) is a common cause of childhood disability, and the incidence of DDH shows significant familial aggregation. As the genetic factors of DDH remain unknown, the correlation between five candidate single nucleotide polymorphisms (SNPs) and DDH was evaluated in the Han Chinese population of Southwest China.

METHODS

A case‒control association study was conducted in 276 patients with DDH and 318 healthy controls. SNP genotyping in the case and control groups was performed by SNPshot and multiple PCR. SNPs were genotyped in the case and control groups by multiplex PCR. The relationship between DDH and candidate SNPs was evaluated using the χ2 test.

RESULTS

The genotype distributions of rs291412 in HIBCH and rs769956 in FTCDNL1 were different between the case and control groups (P < 0.05). After genetic model analysis, logistic regression analysis revealed that the C allele of rs291412 had a protective effect on DDH (OR = 0.605, P = 0.010) and that the G allele of rs769956 was a risk factor (OR = 2.939, P = 0.010).s.

CONCLUSION

These SNPs could be associated with susceptibility to DDH but larger population-based studies should confirm the current results.

摘要

背景

发育性髋关节发育不良(DDH)是儿童残疾的常见原因,且DDH的发病率显示出显著的家族聚集性。由于DDH的遗传因素尚不清楚,因此在中国西南地区的汉族人群中评估了五个候选单核苷酸多态性(SNP)与DDH之间的相关性。

方法

对276例DDH患者和318例健康对照进行了病例对照关联研究。病例组和对照组的SNP基因分型通过SNPshot和多重PCR进行。通过多重PCR对病例组和对照组的SNP进行基因分型。使用χ2检验评估DDH与候选SNP之间的关系。

结果

病例组和对照组之间,HIBCH基因中的rs291412和FTCDNL1基因中的rs769956的基因型分布存在差异(P < 0.05)。经过遗传模型分析,逻辑回归分析显示rs291412的C等位基因对DDH具有保护作用(OR = 0.605,P = 0.010),而rs769956的G等位基因是一个危险因素(OR = 2.939,P = 0.010)。

结论

这些SNP可能与DDH的易感性相关,但需要更大规模的基于人群的研究来证实当前结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe11/11304665/c11dd061bb7c/13018_2024_4958_Fig2_HTML.jpg

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