Haplotype-based Analysis of 6q24-25 for Association with Rheumatoid Arthritis.

Autor: Gauri LA; Senior Professor, Department of Medicine, Sardar Patel Medical College, Bikaner, Rajasthan, India, Corresponding Author., Singh U; Associate Professor, Department of Medicine, Shree Kalyan Government Medical College, Sikar, Rajasthan, India., Choudhary S; Assistant Professor, Department of Medicine, Shree Kalyan Government Medical College, Sikar, Rajasthan, India., Ravidutt; Assistant Professor, Department of Medicine, Sardar Patel Medical College, Bikaner, Rajasthan, India., Liyakat N; Senior Resident, Department of Radiodiagnosis, Sardar Patel Medical College, Bikaner, Rajasthan, India., Liyakat A; Director, Department of Radiodiagnosis, The Galaxy Ultrasound and Diagnostic Centre, Jaipur, Rajasthan, India.
Jazyk: angličtina
Zdroj: The Journal of the Association of Physicians of India [J Assoc Physicians India] 2024 Aug; Vol. 72 (8), pp. 59-62.
DOI: 10.59556/japi.72.0601
Abstrakt: Background: Rheumatoid arthritis (RA) is a multisystem inflammatory disorder. Family history of RA is an important risk factor as it is strongly linked with the inherited HLA-DR4 (most specifically DR0401 and 0404). The aim of this study is to conduct the haplotype-based analysis of 6q24-25 and evaluate its association with RA.
Materials and Methods: Case-control study which included all patients attending outpatient department (OPD) at Sardar Patel Medical College, Bikaner, Rajasthan and volunteers (only for blood samples). Blood samples of patients were collected. As per inclusion and exclusion criteria, a total of 103 subjects lacking history of disease were included under control group, while 48 cases were recruited as study group. Any significant departure of genotype distribution is evaluated using Hardy-Weinberg equilibrium by Chi-squared test.
Results: Case-control association was done using data from 151 genomic deoxyribonucleic acid (DNA) samples, which were allele typed. RA is significantly associated with >305bp (the longer allele of D6S1053 corresponding to 11 tetramer (GATA) repeats. Differences in individual allele frequency within the control population and RA cases were observed which shows the bimodal distribution of the 10 alleles of D6S1053 short tandem repeat (STR) marker observed in the cohort tested by us. No significant association with the risk for RA is shown by the allele for D6S1053 and the mutant allele 118G. Similarly, OPRM1 gene's haplotype frequency for rs1799972 for D6S1053 allele has not shown any added risk with the wild allele 17C compared to controls. The polymorphism showed that 17T depicted a higher odds ratio of 1.3 with an associated risk of 1.15 in the presence of longer allele of DS61053. Significance observed between short allele and RA was lost when haplotype analysis for the two genes were taken together. There was no difference observed between the short or long allele and 17T/C while there was a significant difference observed when haplotype frequencies were compared with alleles of A118G and the long and short allele of DS61053.
Conclusion: We concluded that the short allele of µ-opioid receptor (MOR) gene offered a clear protection from a risk of getting RA.
(© Journal of the Association of Physicians of India 2024.)
Databáze: MEDLINE