PMID- 37569411
OWN - NLM
STAT- Publisher
LR  - 20230814
IS  - 1422-0067 (Electronic)
IS  - 1422-0067 (Linking)
VI  - 24
IP  - 15
DP  - 2023 Jul 27
TI  - Effects of Human Leukocyte Antigen DRB1 Genetic Polymorphism on Anti-Cyclic 
      Citrullinated Peptide (ANTI-CCP) and Rheumatoid Factor (RF) Expression in 
      Rheumatoid Arthritis (RA) Patients.
LID - 10.3390/ijms241512036 [doi]
LID - 12036
AB  - Rheumatoid arthritis (RA) is a systemic disease characterized by non-infectious 
      inflammation of the joints and surrounding tissues, which can cause severe health 
      problems, affect the patient's daily life, and even cause death. RA can be 
      clinically diagnosed by the occurrence of blood serological markers, rheumatoid 
      factor (RF) and anti-cyclic citrullinated peptide antibody (anti-CCP). However, 
      about 20% of RA patients exhibit negative results for both markers, which makes 
      RA diagnosis difficult and, therefore, may delay the effective treatment. 
      Previous studies found some evidence that human leukocyte antigen (HLA)-related 
      genes might be the susceptibility genes for RA and their polymorphisms might 
      contribute to varieties of susceptibility and disease severity. This study aimed 
      for the genetic polymorphisms of the RA patient genome and their effects on the 
      RA patient's serological makers, RF and anti-CCP. A total of 4580 patients' 
      electronic medical records from 1992 to 2020 were retrieved from the China 
      Medical University Hospital database. The most representative single-nucleotide 
      polymorphisms (SNPs) were identified through a genome-wide association study 
      (GWAS) followed by enzyme-linked immunosorbent assay (ELISA) validation using the 
      blood from 30 additional RA patients. The results showed significant changes at 
      the position of chromosome 6 with rs9270481 being the most significant locus, 
      which indicated the location of the HLA-DRB1 gene. Further, patients with the CC 
      genotype at this locus were more likely to exhibit negative results for RF and 
      anti-CCP than those with the TT genotype. The C allele was also more likely to be 
      associated with negative results for RF and anti-CCP. The results demonstrated 
      that a genetic polymorphism at rs9270481 affected the expression of RF and 
      anti-CCP in RA patients, which might indicate the necessity to develop a 
      personalized treatment plan for each individual patient based on the genetic 
      profile.
FAU - Chen, Yu-Chia
AU  - Chen YC
AD  - Million-Person Precision Medicine Initiative, Department of Medical Research, 
      China Medical University Hospital, Taichung 404, Taiwan.
FAU - Huang, Chung-Ming
AU  - Huang CM
AD  - Division of Immunology and Rheumatology, Department of Internal Medicine, China 
      Medical University Hospital, Taichung 404, Taiwan.
AD  - School of Chinese Medicine, China Medical University, Taichung 404, Taiwan.
FAU - Liu, Ting-Yuan
AU  - Liu TY
AUID- ORCID: 0000-0002-2729-0541
AD  - Million-Person Precision Medicine Initiative, Department of Medical Research, 
      China Medical University Hospital, Taichung 404, Taiwan.
FAU - Wu, Ning
AU  - Wu N
AD  - Department of Biological Sciences, Southeastern Oklahoma State University, 
      Durant, OK 74701, USA.
FAU - Chan, Chia-Jung
AU  - Chan CJ
AD  - Genetics Center, Department of Medical Research, China Medical University 
      Hospital, Taichung 404, Taiwan.
FAU - Shih, Peng-Yu
AU  - Shih PY
AD  - Genetics Center, Department of Medical Research, China Medical University 
      Hospital, Taichung 404, Taiwan.
FAU - Chen, Hsin-Han
AU  - Chen HH
AD  - Division of Plastic and Reconstructive Surgery, China Medical University 
      Hospital, Taichung 404, Taiwan.
FAU - Chen, Shih-Yin
AU  - Chen SY
AUID- ORCID: 0000-0002-6925-7627
AD  - School of Chinese Medicine, China Medical University, Taichung 404, Taiwan.
AD  - Genetics Center, Department of Medical Research, China Medical University 
      Hospital, Taichung 404, Taiwan.
FAU - Tsai, Fuu-Jen
AU  - Tsai FJ
AUID- ORCID: 0000-0002-1373-245X
AD  - School of Chinese Medicine, China Medical University, Taichung 404, Taiwan.
AD  - Genetics Center, Department of Medical Research, China Medical University 
      Hospital, Taichung 404, Taiwan.
AD  - Department of Medical Genetics, China Medical University Hospital, Taichung 404, 
      Taiwan.
LA  - eng
GR  - DMR-110-023 and DMR-112-126/China Medical University Hospital/
PT  - Journal Article
DEP - 20230727
PL  - Switzerland
TA  - Int J Mol Sci
JT  - International journal of molecular sciences
JID - 101092791
SB  - IM
PMC - PMC10418683
OTO - NOTNLM
OT  - anti-cyclic citrullinated peptide antibody
OT  - genome-wide association study (GWAS)
OT  - human leukocyte antigen DRB1
OT  - phenome-wide association studies (PheWASs)
OT  - rheumatoid arthritis
OT  - rheumatoid factor
COIS- The authors declare no conflict of interest.
EDAT- 2023/08/12 10:53
MHDA- 2023/08/12 10:53
PMCR- 2023/07/27
CRDT- 2023/08/12 01:08
PHST- 2023/05/28 00:00 [received]
PHST- 2023/07/14 00:00 [revised]
PHST- 2023/07/21 00:00 [accepted]
PHST- 2023/08/12 10:53 [medline]
PHST- 2023/08/12 10:53 [pubmed]
PHST- 2023/08/12 01:08 [entrez]
PHST- 2023/07/27 00:00 [pmc-release]
AID - ijms241512036 [pii]
AID - ijms-24-12036 [pii]
AID - 10.3390/ijms241512036 [doi]
PST - epublish
SO  - Int J Mol Sci. 2023 Jul 27;24(15):12036. doi: 10.3390/ijms241512036.