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Gene variant linked to lupus more prevalent among Kuwaiti patients
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Patients from Kuwait with systemic lupus erythematosus demonstrated a relatively high 17.4% frequency of the protein tyrosine phosphatase non-receptor type 22 gene variant R620W, compared with 0.9% of controls, according to a study published in BMC Rheumatology.
Further, researchers found that 35.7% of patients with systemic lupus erythematosus (SLE) had at least one combination of this variant allele, a frequency that is significantly higher than any reported in other world populations, the researchers wrote.
“The [protein tyrosine phosphatase non-receptor type 22 (PTPN22)] gene encodes a lymphoid-specific phosphatase (LYP) which has been shown to be a negative regulator of T cell activation,” Adel M. Al-Awadhi, BM, BCh, FRCPC, FACR, of Kuwait University and Al-Amiri Hospital, and colleagues wrote. “In spite of a large number of reports linking the PTPN22 gene R620W functional variant with a number of autoimmune diseases, conflicting results have appeared in the literature about its prevalence in different world populations.”
To analyze the association between PTPN22 gene functional variant R620W and SLE in individuals in Kuwait, the researchers recruited 134 patients with the disease, as well as 214 of their healthy peers, from two major teaching hospitals. Information collected from patients with SLE included age, age-at-onset, sex, clinical manifestations associated with the disease and disease severity. Participants in the control group were otherwise healthy patients who presented to a hospital outpatient clinic for minor illnesses.
The researchers found the PTPN22 gene polymorphism genotypes in 126 of the patients with SLE, and in all the control participants. The genotypes were determined through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and confirmed via DNA sequence analysis.
According to researchers, 35.7% of patients with SLE had at least one variant allele (T-allele), compared with 15.9% in the control group. Additionally, the researchers found a statistically significant difference in the frequency of variant genotypes, TT and CT, among patients with SLE and those in the control group (P < .0001). There was no association between the PTPN22 gene variant and the Raynaud’s phenomenon, renal involvement or SLE severity.
“The frequency of PTPN22 gene functional variant R620W reported in this study is amongst the highest compared to other world populations,” Al-Awadhi and colleagues wrote. “A high prevalence of this variant in SLE patients in comparison to controls suggests its significant contribution in conferring susceptibility to SLE along with other factors.” – by Jason Laday
Disclosure: The researchers report no relevant financial disclosures.
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