Association of Raynaud’s phenomenon with a polymorphism in the NOS1 gene

“…In 2000, Susol E. et al conducted a genome-wide screen to identify chromosomal regions containing genes conferring susceptibility to RP, and identified three potential candidate genes: the beta subunit of the muscle acetylcholine receptor and the serotonin 1B and 1E receptors by a two-stage screening process [21]. Crispin JC et al assessed the association between RP and single nucleotide polymorphisms (SNPs) in temperature-responsive or vasospastic genes and found that RP was associated with variation in gene NOS1 [22]. Additionally, it has been suggested that MTHFR mutation is more frequently found in patients with RP, which confirms genetic predisposition may play a key role in the pathogenesis of RP [23].What's more, geographical factors may also lead to differences, because a colder climate may promote the development of RP [24].…”

Section: Discussionmentioning

confidence: 99%

Clinical features and risk factors of Raynaud’s phenomenon in primary Sjögren’s syndrome

et al. 2021

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Objective The aim at the current study was to investigate the clinical characteristics and risk factors of Raynaud’s phenomenon (RP) in patients with primary Sjögren’s syndrome (pSS). Methods Retrospective analysis of the medical records of 333 new-onset pSS patients was performed. Demographic, clinical, and serological data were compared between individuals with and without RP. Logistic regression analysis was used to identify risk factors. Results RP was present in 11.41% of the pSS patients. pSS-RP patients were younger (49.74±14.56 years vs. 54.46±13.20 years, p=0.04) and exhibited higher disease activity (11 [5.75–15] vs. 7 [4–12], p=0.03) than those without. The prevalence of lung involvement was significantly higher in pSS patients with RP (60.53% vs. 17.29%; p<0.001). A significantly higher proportion of patients with pSS-RP tested positive about antinuclear (ANA), anti-RNP, and anti-centromere antibodies (ACA) compared to those without (p=0.003, <0.001, and 0.01, respectively). Multivariate analysis identified lung involvement (odds ratio [OR]=8.81, 95% confidence interval [CI] 2.02–38.47; p=0.04), anti-RNP positive status (OR=79.41, 95% CI 12.57–501.78; p<0.0001), as well as ACA (OR=13.17, 95% CI 2.60–66.72; p=0.002) as prognostic factors for pSS-RP. Conclusion The presence of RP defined a subset of pSS with a unique phenotype, manifesting as increased lung involvement and a higher frequency of anti-RNP antibodies and ACA, as well as greater disease activity. These results suggest that RP has clinical and prognostic value of pSS patients. Further prospective studies with a larger number of subjects are warranted to confirm our findings and assess the prognostic and treatment implications of RP in pSS patients. Key Points• Raynaud’s phenomenon (RP) was present in 38 (11.41%) of 333 patients with primary Sjögren’s syndrome (pSS), with patients with RP exhibiting a younger age and higher disease activity.• The presence of RP indicates a subset of pSS with a unique phenotype, with manifestations including increased lung involvement and a higher frequency of anti-RNP antibodies and anti-centromere antibodies.• Patients with pSS and RP need close follow-up and long-term observation (including assessment of microangiopathy), with specific attention paid to the possible development of clinical features of systemic sclerosis.

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“…Carriers of at least one C allele at the polymorphic site CALCA T-692C showed increased risk for hypertension [ 114 ]. The CALCB gene polymorphism rs16930880 was also confirmed to be associated with vasospasm of Reynolds phenomenon [ 115 ]. As the mice grew older, the aging lumbar dorsal root ganglia (DRGs) showed peripheral sensitization, inflammatory reaction, and high expression of neurotransmitter CALCA mRNA [ 116 ].…”

Section: Cgrp and Nervous System Diseasesmentioning

confidence: 99%

CGRP: A New Endogenous Cell Stemness Maintenance Molecule

Chen

Zhang

et al. 2022

Oxidative Medicine and Cellular Longevity

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Stem cells have the ability of self-replication and multidirectional differentiation, but the mechanism of how stem cells “maintain” this ability and how to “decide” to give up this state and differentiate into cells with specific functions is still unknown. The Nobel Prize in physiology and medicine in 2021 was awarded to “temperature and tactile receptor,” which made the pain receptor TRPV1-calcitonin gene-related peptide (CGRP) pathway active again. The activation and blocking technology of CGRP has been applied to many clinical diseases. CGRP gene has complex structure and transcription process, with multiple methylation and other modification sites. It has been considered as a research hotspot and difficulty since its discovery. Drug manipulation of TRPV1 and inhibition of CGRP might improve metabolism and prolong longevity. However, whether the TRPV1-neuropeptide-CGRP pathway is directly or indirectly involved in stem cell self-replication and multidirectional differentiation is unclear. Recent studies have found that CGRP is closely related to the migration and differentiation of tumor stem cells, which may be realized by turning off or turning on the CGRP gene expression in stem cells and activating a variety of ways to regulate stem cell niches. In this study, we reviewed the advances in researches concentrated on the biological effects of CGRP as a new endogenous switching of cell stemness.

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Association of Raynaud’s phenomenon with a polymorphism in the NOS1 gene

Cited by 17 publications

References 18 publications

Raynaud's phenomenon

Raynaud's phenomenon

Clinical features and risk factors of Raynaud’s phenomenon in primary Sjögren’s syndrome

CGRP: A New Endogenous Cell Stemness Maintenance Molecule

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