Whole‑genome sequencing of a monozygotic twin discordant for systemic lupus erythematosus

Chen,Fei; Li,Zhen; Li,Rong; Li,Yunlong

doi:10.3892/mmr.2018.8912

Whole‑genome sequencing of a monozygotic twin discordant for systemic lupus erythematosus

Authors:
- Fei Chen
- Zhen Li
- Rong Li
- Yunlong Li
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Affiliations: Department of Clinical Medicine, Affiliated Hospital of Kunming University of Science and Technology (The First People's Hospital of Yunnan Province), Kunming University of Science and Technology, Kunming, Yunnan 650500, P.R. China, Department of Breast Surgery, Yunnan Tumor Hospital, The Third Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650118, P.R. China
Published online on: April 20, 2018 https://doi.org/10.3892/mmr.2018.8912
Pages: 8391-8396

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Abstract

Systemic lupus erythematosus (SLE) is an autoimmune disease, and its genetic causes remain to be fully elucidated. Previous studies have identified several susceptibility genes for SLE, such as deoxyribonuclease 1‑like 3. In the present study, whole‑genome sequencing (30X coverage) was performed on the leukocytes of a monozygotic twin discordant for SLE to assess the potential association of de novo variants and copy number variations (CNVs) with the susceptibility to SLE. After analyzing the genomic data, 8 putative discordant exonic variants between the twins were selected. However, the 8 variants that were chosen for validation with Sanger sequencing exhibited no discrepancy in the leukocytes from the twins. Of note, CNV alterations in genes of SLE‑associated pathways were identified between the twins, which may be linked with the phenotype of the monozygotic twin discordant for SLE. The above results suggest that genomic sequences of leukocytes in the monozygotic twins may exhibit a rare difference, and that CNV changes may be associated with phenotype differences in the twin discordant for SLE.

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