scholarly journals Association of Functional Polymorphism in Protein Tyrosine Phosphatase Nonreceptor 22 (PTPN22) Gene with Vitiligo

2020 ◽  
Vol 15 ◽  
pp. 117727192090303
Author(s):  
Ghaleb Bin Huraib ◽  
Fahad Al Harthi ◽  
Misbahul Arfin ◽  
Abdulrahman Aljamal ◽  
Abdulqader Saeed Alrawi ◽  
...  
Keyword(s):  
Protein Tyrosine Phosphatase ◽  
Tyrosine Phosphatase ◽  
Amplification Refractory Mutation System ◽  
Functional Polymorphism ◽  
Ptpn22 Gene ◽  
Protein Tyrosine ◽  
Mutation System ◽  
Pcr Method ◽  
Polymerase Chain ◽  
Saudi Arabians

The protein tyrosine phosphatase nonreceptor 22 (PTPN22) is associated with susceptibility to autoimmune diseases. The functional polymorphism in PTPN22 at 1857 is a strong risk factor for vitiligo susceptibility in Europeans; however, controversy exits in other populations. Present study was aimed to determine whether the PTPN22 C1857T polymorphism confers susceptibility to vitiligo in Saudi Arabians. Genomic DNA was extracted and amplified using tetra primer amplification-refractory mutation system polymerase chain reaction (ARMS-PCR) method. The frequencies of allele T and genotype CT of PTPN22 C1858T polymorphism were significantly higher, whereas those of allele C and genotype CC were lower in patients as compared with controls ( P < 0.0001). The genotype TT was absent in both the patients and controls. It is concluded that PTPN22 C1858T polymorphism is strongly associated with vitiligo susceptibility. However, additional studies are warranted using large number of samples from different ethnicities and geographical areas.

scholarly journals The Protein Tyrosine Phosphatase Nonreceptor 22 (PTPN22) R620W Functional Polymorphism in Psoriasis

2018 ◽  
Vol 11 ◽  
pp. 117954411775143 ◽  
Author(s):  
Ghaleb Bin Huraib ◽  
Fahad Al Harthi ◽  
Misbahul Arfin ◽  
Sadaf Rizvi ◽  
Abdulrahaman Al-Asmari
Keyword(s):  
Protein Tyrosine Phosphatase ◽  
Tyrosine Phosphatase ◽  
Middle Eastern ◽  
Polymerase Chain Reaction Method ◽  
Amplification Refractory Mutation System ◽  
Homozygous Genotype ◽  
Mutation System ◽  
Polymerase Chain ◽  
Genetic And Environmental Factors ◽  
Complex Autoimmune Disease

Background: Psoriasis is a complex autoimmune disease caused by the interaction of genetic and environmental factors. PTPN22 gene polymorphism has been reported to affect psoriasis susceptibility; however, no data are available for Middle Eastern populations. Objective: The aim of this study was to investigate the association of PTPN22 (1858C/T) R620W polymorphism with psoriasis in a Saudi cohort. Methods: Saudi subjects (n = 306) including patients with psoriasis (n = 106) and matched controls (n = 200) were studied for PTPN22 variants using tetra-primer amplification refractory mutation system-polymerase chain reaction method. The frequencies of alleles and genotypes of PTPN22 (1858C/T) polymorphism were compared between patients and controls. Results: The frequency of CT genotype of PTPN22 (1858C/T) polymorphism was significantly higher, whereas that of CC genotype was lower in patients with psoriasis than in controls ( P < .001, relative risk [RR] = 7.151). The homozygous genotype TT was absent in both the patients and healthy controls. The frequency of allele T encoding tryptophan (W) was significantly increased ( P < .001, RR = 5.76), whereas that of allele C encoding arginine (R) decreased in psoriasis cases as compared with controls ( P < .001, RR = 0.173) indicating that individuals carrying allele T are more susceptible to psoriasis than noncarriers. Conclusions: PTPN22 (1858C/T) polymorphism is positively associated with susceptibility of psoriasis in Saudis and can be developed as biomarker for evaluating psoriasis risk. However, further studies on PTPN22 polymorphism in larger samples from different geographical areas and ethnicity are warranted.

scholarly journals Associations between vaspin rs2236242 gene polymorphism, walking time and the risk of metabolic syndrome

2019 ◽  
Vol 22 (1) ◽  
pp. 41-48 ◽  
Author(s):  
E Suliga ◽  
D Kozieł ◽  
E Cieśla ◽  
D Rębak ◽  
M Wawszczak ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Polycystic Ovary ◽  
Genetic Material ◽  
Amplification Refractory Mutation System ◽  
Ovary Syndrome ◽  
Mutation System ◽  
Pcr Method ◽  
Polymerase Chain ◽  
Artery Disease ◽  
Walking Time

AbstractThe associations between serum vaspin levels and metabolic or coronary artery disease (CAD) and polycystic ovary syndrome (PCOS) is under the scope of current researchers. Therefore, this adipokine can be considered as a biomarker of metabolic syndrome (MetS). The aim of the study was to analyze the associations between the vaspin rs2236242 polymorphism and physical activity in relation to MetS and its components. The analysis involved the genetic material and clinical data of 108 individuals with MetS and 110 controls. Vaspin rs2236242 polymorphism was detected using the tetra-primer amplification-refractory mutation system polymerase chain reaction (T-ARMS PCR) method. The TA genotype of vaspin rs2236242 was associated with a greater risk of MetS and its components compared with the TT genotype. The analysis of interactions between genotype and walking time revealed that a walking time longer than 60 min./day significantly decreased the risk of MetS in the TA carriers (p = 0.007). The obtained results suggest that any unfavorable effect of the TA genotype of the vaspin rs2236242 polymorphism can be essentially reduced, or even reversed, in a case of individuals walking longer than 60 min. a day. The analysis of the interaction between vaspin rs2236242 polymorphism and walking showed that a walking time of longer than 1 hour a day significantly reduced the risk of MetS, elevated blood pressure and triglycerides concentration.

Associations of Protein Tyrosine Phosphatase Nonreceptor 22 (PTPN22) Gene Polymorphisms with Susceptibility to Graves' Disease in a Japanese Population

Thyroid ◽  
2008 ◽  
Vol 18 (6) ◽  
pp. 625-630 ◽  
Author(s):  
Michiko Ichimura ◽  
Hiroo Kaku ◽  
Tomoka Fukutani ◽  
Hirohisa Koga ◽  
Tokunori Mukai ◽  
...  
Keyword(s):  
Protein Tyrosine Phosphatase ◽  
Japanese Population ◽  
Gene Polymorphisms ◽  
Tyrosine Phosphatase ◽  
Graves Disease ◽  
Ptpn22 Gene ◽  
Protein Tyrosine

scholarly journals Noninvasive prenatal screening test for compound heterozygous beta thalassemia using an amplification refractory mutation system real-time polymerase chain reaction technique

2019 ◽  
Vol 11 (3) ◽  
Author(s):  
Narutchala Suwannakhon ◽  
Tanapat Pangeson ◽  
Teerapat Seeratanachot ◽  
Khwanruedee Mahingsa ◽  
Arunee Pingyod ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Real Time ◽  
Beta Thalassemia ◽  
Amplification Refractory Mutation System ◽  
Rt Pcr ◽  
Chain Reaction ◽  
Mutation System ◽  
Pcr Method ◽  
Polymerase Chain ◽  
Thalassemia Mutation

We propose using a modified amplification refractory mutation system real-time polymerase chain reaction (ARMS RTPCR) technique to exclude the invasive prenatal diagnosis for a non-paternally inherited beta thalassemia mutation in couples atrisk for having a baby with CHBT. The ARMS RT-PCR method was performed for 36 at-risk couples by using isolated fetal cell-free DNA from maternal plasma. The modified ARMS RT-PCR primers targeted one of the following paternally inherited beta thalassemia mutation: -28 A→G, CD17 A→T, CD 26 G→A, IVS1-1 G→T and CD 41-42 -CTTT. The method could be successfully employed for NIPST starting with the 7th week of gestation. The results showed that 19 pregnant women were negative for PIBTM (53%). After an on-track and on-time of one year, including postnatal thalassemia blood tests, none of the babies showed symptoms or signs of beta thalassemia disease. We concluded that the modified ARMS RT-PCR method was an accurate, cost-effective and feasible method for use as a NIPST for at-risk couples with the potential of having a baby with CHBT.

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