J Korean Soc Spine Surg.  2020 Mar;27(1):1-8. 10.4184/jkss.2020.27.1.1.

Associations of COL2A1 Gene Polymorphisms and Ankylosing Spondylitis in the Korean Population

• Son ES
• Um SH
• Youn MY

• KMID: 2503665
• DOI: http://doi.org/10.4184/jkss.2020.27.1.1

Abstract

With highly active antiretroviral therapy, human immunodeficiency virus (HIV) infection is considered to be a manageable chronic disease. The improved prognosis increases the desire of individuals with HIV to have biological offspring. With the establishment of washing protocol, no HIV transmission has been reported among more than 11,000 assisted reproduction technology (ART) cycles. Although the Acquired Immunodeficiency Syndrome Prevention Act in Korea prevents the use of HIV-infected blood, organs, tissues and semen, we recently obtained the authentic approval from the Korea Centers for Disease Control and Prevention for the practice of ART in HIV-serodiscordant couples. We report a 32-year-old HIV-seronegative female with her husband who was HIV-1 seropositive. After semen washing was performed by means of a density gradient and the swim-up technique, HIV-1 ribonucleic acid was not detected in the semen. An aliquot of processed semen was cryopreserved before ART. None of 3 cycles of intrauterine insemination was successful. After the third frozen-thawed embryo transfer following two cycles of intracytoplasmic sperm injection, an intrauterine singleton pregnancy was identified. She gave birth to a normal healthy male baby at full term by Cesarean section. She and her baby were tested for HIV during pregnancy and after delivery and the results were negative. Semen washing may be a safe ART method for HIV-serodiscordant couples who desire to have a baby in Korea.Study Design: Case-control comparison study.
Objectives
The aim of this study was to investigate whether single nucleotide polymorphisms (SNPs) of COL2A1 affect the development of ankylosing spondylitis (AS). Summary of Literature Review: Many factors have been reported to be involved in the etiology of AS. Human leukocyte antigen (HLA)-B27 has been established as a genetic factor involved in the development of AS; however, it has been reported in recent studies that various genetic polymorphisms may be related to the development of AS. The collagen, type II, alpha 1 gene (COL2A1 ) plays a role in cartilage formation and maintaining the vitreous humor in the eye. Several previous studies have investigated the associations of COL2A1 with spinal degenerative diseases, but no case-control comparative study has yet investigated the effect of COL2A1 variants on the development of AS.
Materials and Methods
The study was planned with 96 AS patients in the study group and 330 healthy individuals in the control group. We searched the gene region of the COL2A1 gene in the NCBI SNP database (http://www.ncbi.nlm.nih.gov/snp), and 3 SNPs (rs3803183, rs2070739 and rs1793949) were found using sequencing to be significantly different between the AS and control groups. Multiple logistic regression models for genetic analysis were applied
Results
Three SNPs (rs3803183, rs2070739 and rs1793949) of COL2A1 showed significant associations with AS patients compared to control subjects (p<0.05).
Conclusions
SNPs of COL2A1 may be associated with the development of AS in the Korean population.

Keyword

Ankylosing spondylitis; Collagen type II alpha 1 gene,; Single nucleotide polymorphisms; AS in the Korean population