Observational Study
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jun 26, 2020; 8(12): 2530-2541
Published online Jun 26, 2020. doi: 10.12998/wjcc.v8.i12.2530
Gene testing for osteonecrosis of the femoral head in systemic lupus erythematosus using targeted next-generation sequencing: A pilot study
Hong-Sheng Sun, Qing-Rui Yang, Yan-Yan Bai, Nai-Wen Hu, Dong-Xia Liu, Cheng-Yong Qin
Hong-Sheng Sun, Qing-Rui Yang, Yan-Yan Bai, Nai-Wen Hu, Dong-Xia Liu, Department of Rheumatology and Immunology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan 250021, Shandong Province, China
Cheng-Yong Qin, Department of Gastroenterology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan 250021, Shandong Province, China
Author contributions: Qin CY and Yang QR designed the research; Sun HS, Bai YY, Hu NW, and Liu DX performed the research; Sun HS and Yang QR analyzed the data and wrote the paper; Sun HS and Yang QR contributed equally to this work.
Supported by National Natural Science Foundation of China, No. 81671605.
Institutional review board statement: The study was reviewed and approved by the Shandong Provincial Hospital Affiliated to Shandong University Institutional Review Board.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: There are no conflicts of interest to report.
Data sharing statement: Technical appendix, statistical code, and dataset available from the corresponding author at Provincial Hospital Affiliated to Shandong University, Jinan 250021, China. E-mail: qinchengyongdaoshi@163.com. No additional data are available.
STROBE statement: The authors have read the STROBE Statement—checklist of items, and the manuscript was prepared and revised according to the STROBE Statement—checklist of items.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Cheng-Yong Qin, MD, PhD, Chief Doctor, Professor, Department of Gastroenterology, Shandong Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, Jinan 250021, Shandong Province, China. qinchengyongdaoshi@163.com
Received: February 24, 2020
Peer-review started: February 24, 2020
First decision: March 27, 2020
Revised: May 9, 2020
Accepted: May 19, 2020
Article in press: May 19, 2020
Published online: June 26, 2020
Processing time: 120 Days and 21.7 Hours
Core Tip

Core tip: Genetic predisposition might play important roles in the onset of osteonecrosis of the femoral head (ONFH) in systemic lupus erythematosus (SLE). Some gene loci such as complement C3d receptor 2 (CR2), nitric oxide synthase 3 (NOS3), collagen type II alpha 1 chain (COL2A1), protein tyrosine phosphatase non-receptor type 22 (PTPN22), and transient receptor potential cation channel subfamily V member 4 (TRPV4) were reported to be involved in this process. We investigated whether the risk of ONFH in SLE is associated with single nucleotide variations (SNVs) in these five genes by using FastTarget and Illumina Miseq sequencing technologies in 49 cases. Six patients were confirmed to have low frequency SNVs, including one in NOS3, four in COL2A1, and one in CR2. The onset of ONFH in SLE might be associated with the identified SNVs in NOS3, COL2A1, and CR2.