Association Between Thr21Met and Ser89Asn Polymorphisms of the Urotensin II Gene and Systemic Sclerosis

2011 ◽  
Vol 39 (1) ◽  
pp. 106-111 ◽  
Author(s):  
YAVUZ PEHLIVAN ◽  
BULENT GOGEBAKAN ◽  
SERDAR OZTUZCU ◽  
METIN OZGEN ◽  
GÖZDE YILDIRIM CETIN ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Gene Polymorphisms ◽  
Turkish Population ◽  
Allele Frequencies ◽  
Lung Involvement ◽  
Urotensin Ii ◽  
Finger Flexion ◽  
Fibrotic Disorder ◽  
Genotype And Allele Frequencies

Objective.Systemic sclerosis (SSc) is an autoimmune chronic fibrotic disorder. Urotensin II (U-II) is predominantly a vasoactive peptide with fibrotic and prothrombotic features. Like endothelin-1 (ET-1), U-II could play an important role in SSc pathogenesis. We evaluated the possible role of the U-II gene polymorphisms (Thr21Met and Ser89Asn) in the genetic susceptibility to SSc in a Turkish population.Methods.A total of 189 patients with SSc and 205 healthy controls were enrolled in our study. We analyzed the genotype and allele frequencies of the U-II (UTS2) gene polymorphisms Thr21Met and Ser89Asn in patients with SSc and in controls.Results.We found that the Thr21Met polymorphism of the UTS2 gene was markedly associated with the risk of developing SSc (p < 0.0001), but there was no relationship between the Ser89Asn polymorphism and SSc (p > 0.05). Two haplotypes (MS and TS) were markedly associated with SSc (p < 0.05). There were significant associations between the genotype and allele frequencies of UTS2 gene Thr21Met polymorphism and cases with diffuse or limited SSc, systemic or lung involvement, finger flexion deformity, pitting scars at the fingertips, positive anticentromere, or positive antitopoisomerase 1 antibody groups.Conclusion.Our study shows the association between Thr21Met, but not Ser89Asn, in the UTS2 gene and SSc. The results strongly suggest that this single-nucleotide polymorphism may be an important risk factor in the development of SSc, and a powerful indicator of severe skin and lung involvement in patients with SSc.

scholarly journals AB0658 ROLE OF NAILFOLD CAPILLAROSCOPY IN MONITORING LUNG INVOLVEMENT OF SYSTEMIC SCLEROSIS

2019 ◽  
Author(s):  
Laura Groseanu ◽  
Patricia Paraschiva ◽  
Andra Balanescu ◽  
Violeta Bojinca ◽  
Daniela Opris-Belinski ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Nailfold Capillaroscopy ◽  
Lung Involvement

scholarly journals Polymorphisms in FCGR2A (131H/R) and FCGR2B (232I/T) are associated with the development of inhibitors in Chinese hemophilia A patients

2020 ◽  
Author(s):  
Hong Qu ◽  
Yongfang Chen ◽  
Wenjing Zeng ◽  
Xiaohua Huang ◽  
Shuqin Cheng
Keyword(s):  
Direct Sequencing ◽  
Allele Frequencies ◽  
Chinese Han ◽  
Chi Square ◽  
Inhibitor Development ◽  
Fviii Inhibitor ◽  
Gamma Receptor ◽  
Sequencing Method ◽  
Genotype And Allele Frequencies

Abstract Background: Present study was to explore the association between gene polymorphisms in Fc gamma receptor IIa (FCGR2A) and Iib (FCGR2B) and factor VIII (FVIII) inhibitor development in patients with hemophili A (HA) in a Chinese Han population.Methods: FCGR2A (131H/R) and FCGR2B (232I/T) polymorphsims were genotyped using PCR and direct sequencing method in 108 HA patients, including 23 cases with inhibitors and 85 without inhibitors. Chi-square (c2) test was applied to compare the genotype and allele frequencies between two groups. Odds ratio (OR) and 95% confidence interval (95%CI) were calculated to indicate the relative susceptibility of HA.Results: FCGR2A 131RH genotype frequency had a significantly increased trend in inhibitor group compared with the non-inhibitor group, suggesting a momentous role of 131H/R polymorphism for inhibitor development in HA patients. Individuals carrying 131RH genotype showed higher risk to be attacked by the inhibitor development in HA patients (OR=4.929; 95%CI=1.029-23.605). However, there were no significant differences of FCGR2B (232I/T) polymorphism genotype and allele frequencies between inhibitor and non-inhibitor groups.Conclusion: FCGR2A (131H/R) was in relation to the susceptibility of FVIII inhibitors development in HA patients.

scholarly journals Genotype and allele frequencies of SLCO1B1 g.89595 T C polymorphism in a healthy Turkish population

2019 ◽  
Vol 23 (6) ◽  
pp. 1149-1156
Author(s):  
Zuhal UÇKUN ŞAHİNOĞULLARI ◽  
Necmiye CANACANKATAN ◽  
Mehmet CANACANKATAN
Keyword(s):  
Turkish Population ◽  
Allele Frequencies ◽  
Genotype And Allele Frequencies

Evaluation of the possible association of Body Mass Index and four metabolic gene polymorphisms with longevity in an Italian cohort: a role forAPOE, eNOS, andFTOgene polymorphisms

2019 ◽  
Author(s):  
Alfredo Santovito ◽  
Gabriella Galli ◽  
Stefano Ruberto
Keyword(s):  
Body Mass Index ◽  
Body Mass ◽  
Gene Polymorphisms ◽  
Genetic Factors ◽  
Age Groups ◽  
Population Data ◽  
Allele Frequencies ◽  
Age Group ◽  
Italian Cohort

ABSTRACTBackgroundlongevity is considered the result of interactions between environmental and genetic factors.Aimwe investigated the possible association of body mass index and the frequencies ofAPOE, ACE, eNOS, andFTOgene polymorphisms with longevity.Subjects and Method1,100 healthy volunteers aged 10-100 were recruited. We genotyped subjects forAPOE, ACE, eNOS, andFTOgene polymorphisms. Data about height and weight were also collected. The sample was split in four age groups: 1-24, 25-49, 50-85 and 86-100.Resultssignificant differences were found in BMI values between age groups, with exception of 1-24 with respect to 86-100. A significant decrease of theAPO E4, eNOS 393andFTO Aand allele frequencies was observed in the 86-100 age group with respect to younger groups. ForACEgene, no significant differences were found in the allele frequencies between groups. A similar trend was also observed subdividing the sample in two main age groups: 1-85 and 86-100.Conclusionthis study provides evidences for a role ofAPOE, eNOS, andFTOgene polymorphisms in longevity. It has been estimated that the number of centenarians worldwide will double each decade until 2100, making population data about gene polymorphisms relevant for further studies about longevity.

scholarly journals Variants in the 3′ End of SLC6A3 in Northwest Han Population with Parkinson’s

2019 ◽  
Vol 2019 ◽  
pp. 1-7
Author(s):  
Peiye Chang ◽  
Yongwang Fu ◽  
Ping Zhao ◽  
Chunmei Wang ◽  
Mingfang Jiang ◽  
...  
Keyword(s):  
Genetic Factors ◽  
Allele Frequencies ◽  
Control Group ◽  
Control Groups ◽  
Han Population ◽  
Significant Difference ◽  
And Control ◽  
Normal Controls ◽  
Genotype And Allele Frequencies

Parkinson’s disease (PD) is one of the most common neurodegenerative disorders in neurology. It is possible that multifactorial and genetic factors are related to its pathogenesis. Recently, there have been reports of SLC6A3 genetic variants leading to PD. However, the role of 3′ end of SLC6A3 in PD is less studied in different ethnic groups. To explore the roles of 3′ end of SLC6A3 in PD development, 17 SNP sites in 3′ end of SLC6A3 were analyzed in 360 PD patients and 392 normal controls of Han population residing in northwest of China. The significant difference of gene type and allele frequencies between the PD and control groups was detected only in rs40184 (P = 0.013 and 0.004, respectively; odds ratio 2.529, 95% confidence interval 1.325–4.827). The genotype and allele frequencies of the other 16 SNP sites were not found to be different between the PD group and the control group. rs2550936, rs3776510, and rs429699 were selected to construct the haplotypes; no significant difference was found in a frequency of 5 haplotypes between the PD group and the control group. These results suggest that the SLC6A3 variant in rs40184 A allele may increase the risk of PD in northwest Han population and may be a biomarker of PD.

Analysis of paraoxonase-1 (PON1) gene polymorphisms in vitiligo / Vitiligo’da paroksinaz-1 (PON1) gen polimorfizminin araştırılması

2015 ◽  
Vol 40 (5) ◽  
Author(s):  
Havva Yıldız Seçkin ◽  
Göknur Kalkan ◽  
İsmail Benli ◽  
İlknur Bütün ◽  
Yalçın Baş ◽  
...  
Keyword(s):  
Gene Polymorphisms ◽  
Statistical Difference ◽  
Turkish Population ◽  
Allele Frequencies ◽  
Paraoxonase 1 ◽  
Control Group ◽  
Healthy Controls ◽  
Loss Of Function ◽  
Pon1 Gene ◽  
Homozygous Genotype

AbstractObjective: Vitiligo is a chronic autoimmune depigmentation disease, which is characterized by loss of function of the melanocytes in epidermis. Recent studies suggest that oxidant/antioxidant status plays important role in the pathogenesis of vitiligo. We aimed to investigate possible associations between vitiligo and PON1 M / L55 and PON Q192R gene polymorphisms in the Turkish community.Methods: The 57 patients with vitiligo and 69 healthy controls were enrolled into the study. Genotyping was performed to identify PON1 M / L55 and PON Q192R gene polymorphism. Genotype and allele frequencies were compared between patients with vitiligo and healthy control group.Results: In patients (p=0.0061) and healthy controls (p=0.550), there was no significant statistical difference between L55M and Q192R polymorphisms of the PON1 gene. However, when L55M polymorphism was compared to MM homozygous genotype and LL+LM genotypes, it was notably higher in controls than in patients, which seems to be protective against the disease (p=0.034, OR:0. 3, 95% CU: 0.08-0.93). Although, there was no not a statistical difference in allele frequencies of Q192R polymorphism between patients and controls (p=0.242), the M allele of L55M polymorphism was significantly higher in controls than in patients with vitiligo, which means that it might be protective against vitiligo (p=0.009, OR: 0.48, 95% CI: 0.27-0.84).Conclusion: Even though there were no differences between patients and controls, this is the first study that investigated the possible associations between the PON1 M/L55 and PON Q192R gene polymorphisms within the Turkish population.

The Role of Chest CT in Deciphering Interstitial Lung Involvement: Systemic Sclerosis Versus COVID-19

2021 ◽  
Author(s):  
Martina Orlandi ◽  
Nicholas Landini ◽  
Gianluca Sambataro ◽  
Cosimo Nardi ◽  
Lorenzo Tofani ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Chest Ct ◽  
Lung Involvement

The Functional Polymorphism 844 A>G in FcαRI (CD89) Does Not Contribute to Systemic Sclerosis or Rheumatoid Arthritis Susceptibility

2010 ◽  
Vol 38 (3) ◽  
pp. 446-449 ◽  
Author(s):  
JASPER C.A. BROEN ◽  
MARIEKE J.H. COENEN ◽  
BLANCA RUEDA ◽  
TORSTEN WITTE ◽  
LEONID PADYUKOV ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Systemic Sclerosis ◽  
Functional Polymorphism ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Negative Results ◽  
Study Population ◽  
Genotype And Allele Frequencies ◽  
Arthritis Susceptibility

Objective.To investigate the role of the FcαRI 844 A>G functional polymorphism in the genetic predisposition to rheumatoid arthritis (RA) and systemic sclerosis (SSc) susceptibility.Methods.The study population was composed of 1401 patients with SSc, 642 patients with RA, and 1317 healthy controls. The FcαRI (CD89) single-nucleotide polymorphism rs16986050 was genotyped by pyrosequencing.Results.We observed no significant deviation of the genotype and allele frequencies in RA and SSc compared to controls. A metaanalysis and a recessive and dominant model yielded similar negative results.Conclusion.Our data show that the FcαRI 844 A>G polymorphism is not associated with SSc or RA susceptibility.

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