PD-1 Gene Polymorphism in Children with Subacute Sclerosing Panencephalitis

Abstract

Subacute sclerosing panencephalitis (SSPE) is a progressive inflammatory and degenerative disorder of the central nervous system. Several factors influence the risk of chronic brain infection with the mutant measles virus. However, to date, no pathogenic mechanism that may predispose to SSPE has been determined. Studies have indicated that specific polymorphisms in certain host genes are probably involved in impairing the ability of host immune cells to eradicate the measles virus in SSPE patients. Programmed cell death protein 1 (PD-1), a member of the CD28 family, is a negative regulator of the immune system. The purpose of our study was to investigate whether PD-1 gene polymorphisms affect susceptibility to the development of SSPE in Turkish children. In total, 109 subjects (54 SSPE patients and 55 healthy controls) were genotyped for the PD-1.9 C/T (rs2227982) single-nucleotide polymorphism (SNP). The distributions of T alleles in the PD-1.9 polymorphism in SSPE patients and healthy controls were 2.8 and 10.9%, respectively. There was a statistically significant difference between the groups; the 95% confidence interval (CI) was 0.06 to 0.85 and the odds ratio (OR) was 0.23 (χ(2) test). Thus, we identified an association between SSPE and the PD-1 rs2227982 gene polymorphism; the frequency of T alleles was higher in controls than in SSPE patients.

Association of PD-1 and PDL-1 gene polymorphisms with colorectal cancer risk and prognosis

“…In Brazilian population GG was reported as 90.4% and GA + AA combined frequency was reported as 9.6% [43]. Similar with our results rs2227982 GG, GA and AA genotype frequencies were reported as 89.9%, 9.2% and 0.9% in another study conducted in Turkish population [44]. According to results from different populations, rs2227982 AA genotype seems more frequent in Asian populations.…”

Subacute Sclerosing Panencephalitis in a Toddler: Changing Epidemiological Trends

“…Various risk factors reported to influence the risk of chronic brain infection with the mutant measles virus include younger age at measles onset, living in a rural area, poverty, overcrowding, low level of parental education, an older mother, a higher number of siblings, and a higher birth order (i.e., elder sibling who would have higher chance of being exposed younger siblings with measles before the age of 5 years) [16]. Recently an association between programmed cell death protein 1 (PD-1), a member of the CD28 family, and children with SSPE has been reported [17]. Individuals with acquired immunodeficiency syndrome or children whose mothers have acquired immunodeficiency syndrome might be at higher risk of a fulminant course of SSPE [18], and earlier onset of familial cases of SSPE also has been reported to present with shorter latency period [19].…”

Association of NOD1 and NOD2 Polymorphisms With Susceptibility to Subacute Sclerosing Panencephalitis

“…The genetic susceptibility of subacute sclerosing panencephalitis has been associated with many genes, including IL-4 , interferon regulatory factor 1 , MxA , IL18 , TLR3 , Granzyme B , PD-1 , IL-28 , and IL-29 have been reported. 4,6,15,18 NLR family members, intracellular sensors of PAMPs, share a common organization consisting of a C-terminal leucine-rich repeat (LRR) domain with regulatory and ligand recognition functions, a central nucleotide-binding and an oligomerization domain (NBD), and an N-terminal effector-binding domain. 19 NOD1 and NOD2 are the best-known members among the NLRs.…”