Association of Signal Transducer and Activator of Transcription 4 rs10181656 Polymorphism With Rheumatoid Arthritis and Systemic Sclerosis in Khuzestan Province in Southwestern Iran

Ghanavati, Fatemeh Kamari; Nezhad, Seyed Reza Kazemi; Hajjari, Mohammadreza; Akhoond, Mohammad Reza

doi:10.5606/archrheumatol.2020.7376

Cited by 4 publications

(5 citation statements)

References 32 publications

(32 reference statements)

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“…A meta-analysis showed that the STAT4 rs7574865 T allele was associated with RA in Europeans (OR = 1.300; 95% CI = 1.195-1.414; p < 0.001) [34]. Another study found a statistical association between rs10181656 and RA (p = 0.007) [35]. Furthermore, Hanan et al found that patients carrying the T allele of rs7574865 have a high risk of RA and SLE compared to healthy controls (p < 0.001) [36].…”

Section: Discussionmentioning

confidence: 99%

Influence of STAT4 Genetic Variants and Serum Levels on Multiple Sclerosis Occurrence in the Lithuanian Population

Bruzaite,

Gedvilaite,

Balnyte

et al. 2024

JCM

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Background: Multiple sclerosis (MS) is an autoimmune disease involving demyelination, inflammation, gliosis, and the loss of neurons. MS is a growing global health problem most likely caused by genetic, immunological, and environmental factors. However, the exact etiology of the disease is still unknown. Since MS is related to a dysregulation of the immune system, it could be linked to signal transducer and activator of transcription 4 (STAT4). To fully comprehend the significance of the STAT4 gene and STAT4 serum levels in MS, further research is required. Methods: A total of 200 MS patients and 200 healthy controls participated in the study. Deoxyribonucleic acid (DNA) was extracted using silica-based membrane technology. Polymerase chain reaction was used in real time for genotyping. Using the ELISA technique, serum levels were measured. Results:STAT4 rs7601754 AA genotype and the A allele were statistically significantly less frequent in MS patients (p = 0.003). Also, rs7601754 was associated with 1.9-fold increased odds of MS occurrence (p = 0.004). The rs7601754 AG genotype was more common in males with MS (p = 0.011) and was associated with 2.5-fold increased odds of MS occurrence in males (p = 0.012). STAT4 serum levels were statistically significantly lower in MS patients compared to the control group (p = 0.007). Conclusions:STAT4 rs7601754 increases the odds of MS occurrence. STAT4 serum levels were statistically significantly lower in MS patients compared to the control group.

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Section: Discussionmentioning

confidence: 99%

Influence of STAT4 Genetic Variants and Serum Levels on Multiple Sclerosis Occurrence in the Lithuanian Population

Bruzaite,

Gedvilaite,

Balnyte

et al. 2024

JCM

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“…There are few studies on the STAT4 rs10181656 SNP in the scientific literature databases. Scientific databases state that this SNP is associated with RA, SS, and SLE [20][21][22]. In a 2017-2018 study conducted in Iran, the STAT4 rs10181656 polymorphism was strongly associated with RA risk (p = 0.007), but no association was found with SS [21].…”

Section: Discussionmentioning

confidence: 99%

“…Scientific databases state that this SNP is associated with RA, SS, and SLE [20][21][22]. In a 2017-2018 study conducted in Iran, the STAT4 rs10181656 polymorphism was strongly associated with RA risk (p = 0.007), but no association was found with SS [21]. The STAT4 rs10181656 polymorphism has been associated with autoimmune diseases such as rheumatoid arthritis, systemic sclerosis, and systemic lupus erythematosus [21,22].…”

Section: Discussionmentioning

confidence: 99%

“…In a 2017-2018 study conducted in Iran, the STAT4 rs10181656 polymorphism was strongly associated with RA risk (p = 0.007), but no association was found with SS [21]. The STAT4 rs10181656 polymorphism has been associated with autoimmune diseases such as rheumatoid arthritis, systemic sclerosis, and systemic lupus erythematosus [21,22]. Studies investigating the association of the STAT4 rs10181656 SNP with the above diseases can be found in the literature.…”

Section: Discussionmentioning

confidence: 99%

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Association of STAT4 Gene Polymorphisms (rs10181656, rs7574865, rs7601754, rs10168266) and Serum STAT4 Levels in Age-Related Macular Degeneration

Blekeris,

Gedvilaite,

Kaikaryte

et al. 2023

Biomedicines

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Age-related macular degeneration (AMD) is a progressive degenerative disease that affects the central part of the retina: the macula. AMD is the most common cause of central vision loss in industrialized countries. Increasing attention is being paid to the study of genetic factors that may influence the manifestation of AMD. STAT4 protein is involved in the pathogenesis of numerous inflammatory processes, so we decided to investigate the association between STAT4 gene polymorphisms (rs10181656, rs7574865, rs7601754, and rs10168266) and age-related macular degeneration. Purpose: To investigate the association between STAT4 (rs10181656, rs7574865, rs7601754, and rs10168266) gene polymorphisms and STAT4 serum levels in patients with age-related macular degeneration. Methods and participants: The study included 150 individuals with early AMD, 150 individuals with exudative AMD, and 200 healthy subjects. DNA was extracted from peripheral blood leukocytes using the DNA salting-out method, and the genotyping was performed using a real-time polymerase chain reaction (RT-PCR) method. STAT4 serum levels were evaluated using the ELISA method. Statistical analysis was performed using “IBM SPSS “Statistics 29.0” software”. Results: The study revealed no statistically significant differences in the distribution of genotypes and alleles for the STAT4 polymorphisms (rs10181656, rs7574865, rs7601754, and rs10168266) between patients with AMD and the control group. Similarly, a gender-based analysis did not yield any significant differences in the genotype or allele frequencies. Age group comparisons also showed no statistically significant variations in the presence of these STAT4 polymorphisms between AMD patients and the control group. However, notably, individuals with exudative AMD displayed lower levels of serum STAT4 in comparison to the control group (median (IQR): 0.118 (0.042) vs. 0.262 (0.385), p = 0.005). Conclusion: Investigating STAT4 gene polymorphisms (rs10181656, rs7574865, rs7601754, and rs10168266) did not reveal a significant association with AMD. However, further analysis demonstrated intriguing findings regarding serum STAT4 levels. Exudative AMD patients with at least one G allele of the STAT4 rs10181656 exhibited significantly lower serum STAT4 levels than the control group subjects (p = 0.011). Similarly, those with at least one T allele of STAT4 rs10168266 had lower serum STAT4 levels compared to the control group subjects (p = 0.039). These results suggest a potential link between specific STAT4 genotypes and serum STAT4 levels in exudative AMD patients, shedding light on a novel aspect of the disease.

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“…According to the scientific literature, the rs10181656, rs7574865, rs7601754 and rs10168266 polymorphisms influence the manifestation of various diseases, including autoimmune diseases. Associations have been found with Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) as well as an increased risk of rheumatoid arthritis, systemic lupus erythematosus and type 1 diabetes [ 12 , 30 , 31 , 32 , 33 , 34 ]. However, no study has examined the impact of the occurrence of ON.…”

Section: Discussionmentioning

confidence: 99%

Optic Neuritis: The Influence of Gene Polymorphisms and Serum Levels of STAT4 (rs10181656, rs7574865, rs7601754, rs10168266)

Gedvilaite,

Duseikaitė,

Dubinskaite

et al. 2023

JCM

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The aim of the study was to evaluate the associations of STAT4 (rs10181656, rs7574865, rs7601754, rs10168266) gene polymorphisms and STAT4 serum level in patients with optic neuritis. Eighty-one subjects with optic neuritis (ON) and 158 healthy subjects participated in the study. Genotyping was performed using real-time polymerase chain reaction to obtain data. STAT4 serum level was determined using the ELISA method. Statistical analysis revealed that STAT4 rs7574865 allele G was statistically significantly more frequent in patients with ON and multiple sclerosis (MS) than in the control group (84.38% vs. 65.93%, p = 0.003). STAT4 rs10168266 allele C was statistically significantly more frequent in the ON group with MS than in the control group (89.06% vs. 71.75%, p = 0.003). The haplotypes G-G-A-C and C-T-A-T of STAT4 (rs10181656, rs7574865, rs7601754, rs10168266) were associated with an 11.5- and 19.5-fold increased odds of ON occurrence (p = 0.003; p = 0.008, respectively). In optic neuritis without MS occurrence, STAT4 (rs10181656, rs7574865, rs7601754, rs10168266) haplotypes G-G-A-C and C-T-A-T were found to be associated with 32.6- and 9-fold increased odds of ON without MS (p = 0.002, p = 0.016, respectively). The current findings may indicate a risk role of STAT4 (rs10181656, rs7574865, rs7601754, rs10168266) G-G-A-C and C-T-A-T haplotypes in the occurrence of optic neuritis.

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Association of Signal Transducer and Activator of Transcription 4 rs10181656 Polymorphism With Rheumatoid Arthritis and Systemic Sclerosis in Khuzestan Province in Southwestern Iran

Cited by 4 publications

References 32 publications

Influence of STAT4 Genetic Variants and Serum Levels on Multiple Sclerosis Occurrence in the Lithuanian Population

Influence of STAT4 Genetic Variants and Serum Levels on Multiple Sclerosis Occurrence in the Lithuanian Population

Association of STAT4 Gene Polymorphisms (rs10181656, rs7574865, rs7601754, rs10168266) and Serum STAT4 Levels in Age-Related Macular Degeneration

Optic Neuritis: The Influence of Gene Polymorphisms and Serum Levels of STAT4 (rs10181656, rs7574865, rs7601754, rs10168266)

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