Association of IL17RC and COL6A1 genetic polymorphisms with susceptibility to ossification of the thoracic posterior longitudinal ligament in Chinese patients

Journal of Orthopaedic Surgery and Research
Peng WangXiaoguang Liu

Abstract

In our previous whole-genome sequencing study of 30 unrelated northern Chinese Han patients, we identified six single nucleotide polymorphisms (SNPs) in the interleukin 17 receptor C (IL17RC) and collagen type VI α1 chain (COL6A1) genes that were potentially associated with thoracic ossification of the posterior longitudinal ligament (T-OPLL). To determine whether these six SNPs are associated with susceptibility to T-OPLL in the northern Chinese Han population, we performed a case-control association study to confirm specific susceptible loci in the expanded samples. The six SNPs in the IL17RC and COL6A1 genes were analyzed in 200 northern Chinese individuals (100 patients and 100 control subjects) using the Sequenom system. The genotype distributions and allele frequencies of each SNP in the control and patient groups were compared. rs201153092, rs13051496, rs199772854, rs76999397, and rs189013166 showed potential pathogenic loci for T-OPLL in the northern Chinese Han population, whereas rs151158105 did not. At the genotype level, the differences in the genotype frequencies of rs201153092, rs13051496, rs199772854, rs76999397, and rs189013166 between T-OPLL cases and controls reached statistical significance. To the best of ou...Continue Reading

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Citations

Jul 12, 2019·Journal of Orthopaedic Surgery and Research·Peng WangShibao Lu
Mar 14, 2019·International Journal of Molecular Medicine·Peng WangShibao Lu
Jul 29, 2019·Cellular and Molecular Gastroenterology and Hepatology·Michael CamilleriAnne F Peery
Jul 22, 2021·European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society·Xiaochen QuXiaoxi Yang

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Methods Mentioned

BETA
genotyping
PCR

Software Mentioned

Sequencing Analysis
Haploview
SIFT
PP2
DNAStar

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