Association between a stromal cell-derived factor 1 (SDF-1/CXCL12) gene polymorphism and microvascular disease in systemic sclerosis

2008 ◽  
Vol 68 (3) ◽  
pp. 408-411 ◽  
Author(s):  
M Manetti ◽  
V Liakouli ◽  
C Fatini ◽  
P Cipriani ◽  
C Bonino ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Microvascular Disease ◽  
Scleroderma Renal Crisis ◽  
Genotype Distribution ◽  
Skin Ulcers ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Pulmonary Arterial ◽  
Stromal Cell Derived Factor ◽  
And Gender

Objective:To investigate the possible implication of SDF1-3′ polymorphism in systemic sclerosis (SSc) susceptibility or clinical phenotype, or both.Methods:150 patients with SSc and 150 controls were enrolled. Skin involvement, autoantibodies, interstitial lung disease, pulmonary arterial hypertension (PAH), scleroderma renal crisis, past and/or current skin ulcers were assessed. Genotyping was performed by PCR-RFLP.Results:Genotype distribution and allele frequency were similar in SSc and controls. SDF1-3′A allele and SDF1-3′GA/AA genotype frequencies were significantly higher in SSc-PAH than in SSc-non-PAH (33.3% vs 18.3%, p = 0.01) and in SSc with skin ulcers than in SSc without ulcers (27.3% vs 16.9%, p = 0.03). The SDF1-3′A allele influenced the predisposition to SSc-related PAH (OR = 2.52, 95% CI 1.11 to 5.69, p = 0.02) and skin ulcers (OR = 2.31, 95% CI 1.18 to 4.52, p = 0.01). After adjustment for age and gender, the SDF1-3′A allele remained a susceptibility factor for the SSc-related vascular manifestations (PAH: OR = 2.37, 95% CI 1.04 to 5.42, p = 0.04; ulcers: OR = 2.33, 95% CI 1.78 to 4.62, p = 0.01).Conclusion:The SDF1-3′A allele is significantly associated with microvascular involvement in SSc.

The −670G>A polymorphism in the FAS gene promoter region influences the susceptibility to systemic sclerosis

2008 ◽  
Vol 68 (4) ◽  
pp. 584-590 ◽  
Author(s):  
V Liakouli ◽  
M Manetti ◽  
A Pacini ◽  
B Tolusso ◽  
C Fatini ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Topoisomerase I ◽  
Gene Promoter ◽  
Serum Levels ◽  
Scleroderma Renal Crisis ◽  
Genotype Distribution ◽  
Healthy Individuals ◽  
Soluble Fas ◽  
Significant Difference ◽  
Pulmonary Arterial

Objective:To evaluate the role of the single-nucleotide polymorphism (SNP) at position −670 in the FAS gene promoter (FAS−670G>A) in influencing the susceptibility, clinical features and severity of systemic sclerosis (SSc).Methods:350 white Italian SSc patients (259 with limited cutaneous SSc (lcSSc) and 91 with diffuse cutaneous SSc (dcSSc)) and 232 healthy individuals were studied. Patients were assessed for the presence of autoantibodies (anticentromere, anti-topoisomerase I (anti-Scl-70) antibodies), interstitial lung disease (ILD), pulmonary arterial hypertension and scleroderma renal crisis. FAS−670G>A SNP was genotyped by PCR restriction fragment length polymorphism assay. Serum levels of soluble FAS (sFAS) were analysed by ELISA.Results:A significant difference in FAS−670 genotype distribution was observed between SSc patients and healthy individuals (p = 0.001). The frequency of the FAS−670A allele was significantly greater in SSc than in controls (p = 0.001). No significant difference in genotype distribution and allele frequencies was observed between lcSSc and dcSSc, although a greater frequency of the FAS−670A allele was found in dcSSc. The FAS−670AA genotype significantly influenced the predisposition to SSc (OR 1.97, 95% CI 1.35 to 2.88, p = 0.001) and to both lcSSc (OR 1.84, 95% CI 1.23 to 2.75, p = 0.003) and dcSSc (OR 2.37, 95% CI 1.41 to 3.99, p = 0.001). FAS−670A allele frequency was greater, although not significantly, in anti-Scl-70 antibody-positive dcSSc and ILD dcSSc. sFAS was significantly higher in patients and controls carrying the FAS−670AA genotype compared with those carrying the FAS−670GG genotype (p = 0.003 in SSc, p = 0.004 in controls).Conclusion:The FAS−670A allele is significantly associated with susceptibility to SSc, suggesting a role for a genetic control of apoptosis in the pathogenesis of the disease.

scholarly journals French recommendations for the management of systemic sclerosis

2021 ◽  
Vol 16 (S2) ◽  
Author(s):  
Eric Hachulla ◽  
Christian Agard ◽  
Yannick Allanore ◽  
Jerome Avouac ◽  
Brigitte Bader-Meunier ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Proximal Region ◽  
Scleroderma Renal Crisis ◽  
Cardiac Damage ◽  
Favorable Prognosis ◽  
Causes Of Mortality ◽  
Cutaneous Form ◽  
Pulmonary Arterial ◽  
Renal Crisis ◽  
Severe Pulmonary Arterial Hypertension

AbstractSystemic sclerosis (SSc) is a generalized disease of the connective tissue, arterioles, and microvessels, characterized by the appearance of fibrosis and vascular obliteration. There are two main phenotypical forms of SSc: a diffuse cutaneous form that extends towards the proximal region of the limbs and/or torso, and a limited cutaneous form where the cutaneous sclerosis only affects the extremities of the limbs (without passing beyond the elbows and knees). There also exists in less than 10% of cases forms that never involve the skin. This is called SSc sine scleroderma. The prognosis depends essentially on the occurrence of visceral damage and more particularly interstitial lung disease (which is sometimes severe), pulmonary arterial hypertension, or primary cardiac damage, which represent the three commonest causes of mortality in SSc. Another type of involvement with poor prognosis, scleroderma renal crisis, is rare (less than 5% of cases). Cutaneous extension is also an important parameter, with the diffuse cutaneous forms having less favorable prognosis.

scholarly journals Vascular Complications of Systemic Sclerosis during Pregnancy

2010 ◽  
Vol 2010 ◽  
pp. 1-5 ◽  
Author(s):  
Eliza F. Chakravarty
Keyword(s):  
Systemic Sclerosis ◽  
Pulmonary Arterial Hypertension ◽  
Pregnancy Outcomes ◽  
Vascular Complications ◽  
Autoimmune Disorder ◽  
Morbidity And Mortality ◽  
Scleroderma Renal Crisis ◽  
Hemodynamic Changes ◽  
Pulmonary Arterial ◽  
Renal Crisis

Systemic sclerosis (SSc) is a chronic autoimmune disorder characterized by progressive fibrosis of the skin and visceral tissues as well as a noninflammatory vasculopathy. Vascular disease in systemic sclerosis is a major cause of morbidity and mortality among nonpregnant patients with SSc and is even a bigger concern in the pregnant SSc patient, as the underlying vasculopathy may prevent the required hemodynamic changes necessary to support a growing pregnancy. Vascular manifestations including scleroderma renal crisis and pulmonary arterial hypertension should be considered relative contraindications against pregnancy due to the high associations of both maternal and fetal morbidity and mortality. In contrast, Raynaud's phenomenon may actually improve somewhat during pregnancy. Women with SSc who are considering a pregnancy or discover they are pregnant require evaluation for the presence and extent of underlying vasculopathy. In the absence of significant visceral vasculopathy, most women with SSc can expect to have reasonable pregnancy outcomes.

scholarly journals Successful Use of Hyperbaric Oxygen as Adjunctive Therapy for a Nonhealing Venous Ulcer in a Patient with Systemic Sclerosis and Pulmonary Arterial Hypertension: A Case Report and Review of the Literature

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Isaac Biney ◽  
Tina Dudney ◽  
Mitchell Goldman ◽  
Lee Carder ◽  
Elise Schriver
Keyword(s):  
Quality Of Life ◽  
Systemic Sclerosis ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Hyperbaric Oxygen ◽  
Venous Ulcer ◽  
Left Lower Extremity ◽  
Skin Ulcers ◽  
Pulmonary Arterial

Skin ulcers are a common complication of systemic sclerosis (SSc) that can significantly impact the quality of life. There have been recent reports on the use of hyperbaric oxygen therapy (HBO2T) in the management of nonhealing systemic sclerosis skin ulcers. The effect of HBO2T on pulmonary arterial hypertension (PAH), another common and potentially life-threatening complication of SSc, is unclear with literature on the subject lacking. We present the case of a 65-year-old female with limited SSc complicated by severe PAH and a nonhealing left lower extremity venous ulcer. HBO2T was successfully used as an adjunct in her management resulting in complete resolution of the venous ulcer and improved quality of life without any adverse effects on her pulmonary arterial hypertension.

scholarly journals Association of SNP T125A on KiSS1 gene with reproduction hormone levels in Kaligesing goat

2020 ◽  
Vol 45 (4) ◽  
pp. 253-260
Author(s):  
G. Hardyta ◽  
D.T. Widayati ◽  
D. Maharani
Keyword(s):  
Luteal Phase ◽  
Reproductive Traits ◽  
Genotype Distribution ◽  
Single Nucleotide ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Hardy Weinberg Equilibrium ◽  
17Β Estradiol ◽  
Hormonal Analysis ◽  
Hormonal Levels

The objective of this study was to assess the association of KiSS1 gene polymorphism with reproductive traits in Kaligesing goat. Genotypes of 48 ewes aged three years old were determined using PCR-RFLP and DNA sequencing. Sixteen out of 48 samples were monitored for the estrus cycle and determined their 17β-estradiol and progesterone levels using ELISA method. The results showed that KISS1 gene in the studied population was polymorphic with one single nucleotide polymorphism (SNP T125A). Then SNP was used to analyze genotype all individuals by PCR-RFLP method using MboII enzyme. Three genotypes (TT, TA and AA) were identified. Genotype frequencies of TA were 59.57%, AA were 40.43% while TT was not inculed in calculation for genetic diversity and assosication analysis since the number of genotype only one goat. The allele frequencies of T and A were 29.79% and 70.21%, respectively. The genotype distribution for the SNP was deviated from Hardy-Weinberg equilibrium (χ2=8.10; P<0.025). Hormonal analysis showed that the levels of 17β-estradiol in the follicular and luteal phase were 50.12±61.26 and 42.35±42.43 pg/ml, respectively, while the levels of progesterone hormone in the follicular and luteal phase were 7.87±10.59 and 12.39±15.93 ng/ml. No significant associations of the polymorphism were observed for any hormonal levels. However, it was first report about polymorfism in KiSS1 gene of local Indonesian goat especially Kaligesing goat. 

Angiotensin-Converting Enzyme Gene Does Not Contribute to Genetic Susceptibility to Systemic Sclerosis in European Caucasians

2009 ◽  
Vol 36 (2) ◽  
pp. 337-340 ◽  
Author(s):  
JULIEN WIPFF ◽  
GUILLAUME GALLIER ◽  
PHILIPPE DIEUDE ◽  
JEROME AVOUAC ◽  
KIET TIEV ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Angiotensin Converting Enzyme ◽  
Digital Ulcers ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Converting Enzyme ◽  
Combined Analysis ◽  
Genotype Frequencies ◽  
Pulmonary Arterial ◽  
Disease Haplotype

Objective.To determine whether angiotensin-converting enzyme (ACE) polymorphisms including I/D and 2 single-nucleotide polymorphisms (SNP) affect susceptibility to systemic sclerosis (SSc) in a large French Caucasian population.Methods.A case-control study was performed in 494 patients with SSc and 280 healthy controls for I/D polymorphism. Two supplementary exonic SNP of ACE gene (rs4309, rs4362) were genotyped in 659 patients with SSc and 511 matched healthy controls. Among the whole SSc population, 453 (67%) patients with SSc had the limited cutaneous subtype, 47 (7%) had precapillary pulmonary arterial hypertension, 209 (32%) had digital ulcers, and 10 (1.5%) had renal crisis. A combined analysis of the available results for ACE I/D genotypes in Caucasians was also performed.Results.There was no association between the 3 polymorphic markers and SSc for allelic and genotype frequencies. No association was observed for the different vascular subsets of the disease. Haplotype analyses did not detect any association. The lack of association for ACE I/D was confirmed by the combined analysis.Conclusion.These results in a large cohort of European Caucasian patients with SSc do not support that the ACE gene is implicated in the pathogenesis of SSc and its vascular damage.

scholarly journals A Unique Presentation of Anti-RNA Polymerase III Positive Systemic Sclerosis Sine Scleroderma

2016 ◽  
Vol 2016 ◽  
pp. 1-4
Author(s):  
Cody M. Lee ◽  
Diana Girnita ◽  
Arundhati Sharma ◽  
Surabhi Khanna ◽  
Jean M. Elwing
Keyword(s):  
Systemic Sclerosis ◽  
Rna Polymerase ◽  
Wide Spectrum ◽  
Rna Polymerase Iii ◽  
Clinical Manifestations ◽  
Autoimmune Disorder ◽  
Scleroderma Renal Crisis ◽  
Polymerase Iii ◽  
Digital Ischemia ◽  
Pulmonary Arterial

Systemic sclerosis is a rare autoimmune disorder with a wide spectrum of clinical manifestations and a multitude of autoantibodies that are associated with it. In the past several years, advances in serologic testing have led to research indicating important prognostic and phenotypic associations with certain subsets of autoantibodies. In particular, anti-RNA polymerase III (anti-RNAP III) has been associated with diffuse cutaneous disease, scleroderma renal crisis, a temporal relationship with malignancy, myositis, synovitis, joint contractures, and gastric antral vascular ectasia. However, anti-RNAP III has not been associated with systemic sclerosis sine scleroderma. We describe a patient with an atypical presentation of anti-RNAP III positive systemic sclerosis sine scleroderma who presented without the typical features of anti-RNAP III disease. Instead, she presented with critical digital ischemia, pulmonary arterial hypertension, gastroesophageal reflux disease, interstitial lung disease, and no clinically detectable sclerodactyly.

Cerebral Vasculopathy Is Associated with Severe Vascular Manifestations in Systemic Sclerosis

2009 ◽  
Vol 36 (7) ◽  
pp. 1486-1494 ◽  
Author(s):  
BENJAMIN TERRIER ◽  
FRÉDÉRIQUE CHARBONNEAU ◽  
EMMANUEL TOUZÉ ◽  
ALICE BEREZNE ◽  
CHRISTIAN PAGNOUX ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Ct Scan ◽  
Vascular Complications ◽  
Scleroderma Renal Crisis ◽  
American College Of Rheumatology ◽  
Increased Risk ◽  
Brain Involvement ◽  
Pulmonary Arterial ◽  
Magnetic Resonance Imaging Mri ◽  
The Brain

Objective.To investigate brain involvement in patients with systemic sclerosis (SSc).Methods.Sixty-three patients with SSc fulfilling the American College of Rheumatology and/or Leroy and Medsger criteria were retrospectively studied, including 30 (47.6%) with limited cutaneous and 27 (42.9%) with diffuse cutaneous SSc. Forty-one patients underwent computed tomography (CT) scan and magnetic resonance imaging (MRI) of the brain, 11 patients only CT scan, and the remaining 11 patients only MRI. Cerebral vasculopathy on MRI and CT scan was defined as absent or mild (score < 1), moderate (1 ≤ score < 2), or severe (score ≥ 2) on a 4-point scale (0 to 3).Results.Cerebral vasculopathy was identified on CT scan in 22 patients (moderate in 12 and severe in 10) and on MRI in 38 patients (moderate in 28 and severe in 10). Patients with severe cerebral vasculopathy seen on MRI were more likely to have pulmonary arterial hypertension (PAH; p = 0.003) and showed a tendency to have scleroderma renal crisis (SRC; p = 0.25, test for trend p = 0.097). A similar association was found between severe cerebral vasculopathy seen on CT scan and PAH (p = 0.026) or SRC (p = 0.04). After adjusting for age and hypertension, severe cerebral vasculopathy was still associated with increased risk of severe vascular manifestations [odds ratio (OR) 32, 95% confidence interval (CI) 3.45–297, p = 0.002 for CT scan; OR 26, 95% CI 1.71–394, p = 0.019 for MRI].Conclusion.Severe cerebral vasculopathy is associated with severe vascular manifestations in SSc patients. SSc patients with severe vascular complications should undergo neuroradiological imaging assessment of brain involvement.

Systemic sclerosis

2021 ◽  
pp. 179-184
Author(s):  
Eliza Chakravarty
Keyword(s):  
Systemic Sclerosis ◽  
Pulmonary Fibrosis ◽  
Pregnancy Outcomes ◽  
Disease Onset ◽  
Scleroderma Renal Crisis ◽  
Cutaneous Manifestations ◽  
Organ Manifestations ◽  
Pulmonary Arterial ◽  
Relative Prevalence ◽  
Renal Crisis

Systemic sclerosis (SSc) is characterized by a non-inflammatory vasculopathy as well as fibrosis of the skin and vital organs. It presents in two distinct subtypes depending on the extent of cutaneous involvement, with each subtype (diffuse vs limited SSc) having different relative prevalence of extra-cutaneous manifestations. Experience describing pregnancy outcomes in SSc is limited because of disease onset mainly in the 4th and 5th decade. Common symptoms, including cutaneous fibrosis and Raynaud’s phenomenon, are not worsened, and may even improve during pregnancy. Severe organ manifestations of SSc, including pulmonary fibrosis, scleroderma renal crisis, and pulmonary arterial hypertension, are associated with increased risks of pregnancy complications and can be more difficult to treat during pregnancy. Therapies for SSc are mostly directed at managing symptoms with vasodilators, angiotensin-renin antagonists, proton pump inhibitors, and immunosuppressives in the case of pulmonary fibrosis.

scholarly journals Study on the association SLC2A9 RS12510549 with uric acid and gout in Vietnamese population

2020 ◽  
Vol 18 (1) ◽  
pp. 49-57
Author(s):  
Nguyen Tran Minh Thang ◽  
Nguyen Doan Tinh ◽  
Nong Van Hai ◽  
Nguyen Thuy Duong
Keyword(s):  
Uric Acid ◽  
Genotype Distribution ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Blood Uric Acid ◽  
Vietnamese Population ◽  
Study Population ◽  
The Relationship ◽  
Protein Channels ◽  
Larger Sample

Gout is the most common form of arthritis in Vietnam and around the world, caused by an excess of blood uric acid levels. The occurrence of gout is influenced by many risk factors such as diet, living and genetic factors. Studies showed gout is associated with polymorphisms located on genes that encode transport protein channels, including SLC2A9 rs12510549. To evaluate the association of polymorphism SLC2A9 rs12510549 to uric acid levels and gout in the Vietnamese population, we genotyped rs12510549 of 519 subjects (168 gout patients and 351 healthy people) by the PCR–RFLP method. The relationship between genotype distribution, the allele frequency of polymorphism with uric acid levels and gout was assessed through statistical methods. The results show that SLC2A9rs12510549 was in accordance with HWE (p> 0.05) and the genotype frequencies of TT, TC and CC were 0.73, 0.25 and 0.02, respectively, confirming the randomness and representation of the study population. The genotype distribution and frequency of the rs12510549 allele were determined unrelated to uric acid levels and gout in the Vietnamese population (p>0.05). Further study with a larger sample size should be implemented to confirm our results on the association of SLC2A9rs12510549 and gout in the Vietnamese population.

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