Association of the long pentraxin PTX3 gene polymorphism (rs3816527) with migraine in an Iranian population

Zandifar, Alireza; Iraji, Niloufar; Taheriun, Maryam; Tajaddini, Mohamadhasan; Javanmard, Shaghayegh Haghjooy

doi:10.1016/j.jns.2015.01.015

Cited by 11 publications

(10 citation statements)

References 28 publications

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“…From the included studies, a brief description of the study design and sample is provided, followed by identifying the genes involved in the pathophysiology of either PHD ( Table 3 ) [29] , [30] , [31] , [32] , [33] , [34] , [35] , [36] , [37] , [38] , [39] , [40] , [41] , [42] , [43] , [44] , [45] , [46] , [47] , [48] , [49] , [50] , [51] , [52] , [53] , [54] , [55] , [56] , [57] , [58] , [59] , [60] , [61] , [62] , [63] , [64] , [65] , [66] , [67] , [68] , [69] , [70] , [71] , [72] , [73] , [74] , [75] , [76] , [77] , [78] , [79] , [80] or TMD ( Table 4 ) [81] , [82] , [83] , [84] , [85] , [86] , [87] , [88] , [89] , [90] , [91] , [92] , [93] , [94] ,…”

Section: Resultsmentioning

confidence: 99%

“… - no evidence for association between rs2653349 and CH was found. Zandifar, A., et al (2015) [78] Case-control study Migraine (103); & controls (148) PTX3 (rs3816527) - genotype frequency of PTX3 was significantly different between the migraine patients and the control subjects; - CC variant homozygote genotype was statistically more frequent in the patients than in the controls; - C allele was not significantly more frequent in the patients. - association between the PTX3 rs3816527 gene with susceptibility to migraine only in men migraineurs.…”

Section: Methodsmentioning

confidence: 99%

See 1 more Smart Citation

Genetic overlap between temporomandibular disorders and primary headaches: A systematic review

Cruz

Monteiro

Paço

et al. 2022

Japanese Dental Science Review

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Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Genetic overlap between temporomandibular disorders and primary headaches: A systematic review

Cruz

Monteiro

Paço

et al. 2022

Japanese Dental Science Review

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“…Some reports state the association of this polymorphism with susceptibility to diabetic nephropathy 26 , 27 and also its association with PTX3 plasma levels and cardiovascular disease events 25 , 28 . PTX3 genetic variants [ PTX3 (+ 1449 A > G), second intron: rs1840680, PTX3 (+ 734A > C), second exon: rs3816527, and PTX3 (C > A) 5’-UTR: rs2120243] have been associated with several clinical conditions, such as infections, female fertility, risk and progression of oral cancer 29 , type II diabetes nephropathy 27 , hypertension 30 and migraine 31 . The circulating levels of PTX3 are elevated in CKD patients and appear to independently predict cardiovascular complications 5 .…”

Section: Introductionmentioning

confidence: 99%

Interleukin 6 (rs1800795) and pentraxin 3 (rs2305619) polymorphisms-association with inflammation and all-cause mortality in end-stage-renal disease patients on dialysis

Rocha

Valente

Coimbra

et al. 2021

Sci Rep

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Chronic inflammation plays an important role in the progression and outcome of chronic kidney disease (CKD). The circulating levels of the inflammatory biomarkers interleukin 6 (IL6) and pentraxin 3 (PTX3) are enhanced in CKD patients, and are associated with the progression of the disease and with higher risk for cardiovascular events, the major cause of death in CKD patients. Our aim was to study how specific polymorphisms of IL6 and PTX3 encoding genes affect the inflammatory response and outcome of end-stage renal disease (ESRD) patients on dialysis. Methodology included the analysis of two single nucleotide polymorphisms (SNP), namely the IL6 (rs1800795) polymorphism in the promoter region (-174G > C), and the PTX3 (rs2305619) polymorphism in the intron 1 (+ 281A > G), which were analyzed in ESRD patients on dialysis and in a group of heathy individuals. The allelic frequencies, genotype distribution and their association with circulating levels of the inflammatory markers C-reactive protein (CRP), IL6, growth differentiation factor 15 (GDF15) and PTX3, were determined in ESRD patients. Events of death were recorded along one year, to assess the association of the studied SNPs with all-cause mortality and the inflammatory biomarkers, in ESRD patients. Results showed that the allelic frequencies and genotype distribution for IL6 and PTX3 SNPs in the control group and ESRD patients were similar and in agreement with other European reports. For the IL6 polymorphism, we found a trend towards higher levels of high-sensitivity (hs) CRP, IL6 and PTX3 in the homozygous genotypes; the CC genotype also showed the highest levels of GDF15. The mortality rate after the 1-year follow-up was 10.4%. The CC genotype (IL6 SNP) was associated to a higher risk of mortality and deceased patients carrying this genotype also showed the highest levels of hsCRP. Regarding the studied PTX3 SNP, the AA genotype was linked to an enhanced inflammatory response, showing the highest values of hsCRP and IL6. Nevertheless, this genotype had no significant impact on the mortality rate. In conclusion, both studied SNPs seem to modulate the inflammatory response in ESRD and may, therefore, be determinant on disease progression and patients’ outcome. Our data also highlights the importance of research on genetic variants that, although less frequent, may have significant biological value.

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“…The PTX3 polymorphism (+ 281A/G) (rs2305619) is located at intron 1 (boundary) 33 . PTX3 genetic variants [PTX3 (+ 1449 A/G), second intron: rs1840680, PTX3 (+ 734A/C), second exon: rs3816527, and PTX3 (C > A) 5'-UTR: rs2120243] have been associated with several clinical conditions, such as infections, female fertility, risk and progression of oral cancer 34 , type II diabetes nephropathy 35 , hypertension 36 and migraine 37 . Circulating levels of PTX3 are elevated in CKD patients, and appear to independently predict cardiovascular complications, both in dialysis and pre-dialysis patients 6 .…”

Section: Introductionmentioning

confidence: 99%

Interleukin 6 (rs1800795) and Pentraxin 3 (rs2305619) Polymorphisms - Association with Inflammation and All-Cause Mortality in End-stage-renal Disease Patients on Dialysis

Rocha

Valente

Coimbra

et al. 2021

Preprint

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Chronic inflammation plays an important role in the progression and outcome of chronic kidney disease (CKD). The inflammatory biomarkers interleukin-6 (IL6) and pentraxin 3 (PTX3) are enhanced in CKD patients and associated with progression of the disease and higher risk for cardiovascular events, the major cause of death in these patients. Our aim was to study how the polymorphisms of their encoding genes affect the inflammatory response and outcome of end-stage renal disease (ESRD) patients on dialysis. We analyzed two single nucleotide polymorphisms (SNP), the IL6 (rs1800795) polymorphism in the promoter region (-174G/C), and the PTX3 polymorphism in the intron 1 (+ 281A/G), in ESRD patients on dialysis and in heathy individuals. The allelic frequencies, genotype distribution and their association with the circulating levels of the inflammatory markers high sensitivity C-reactive protein (hsCRP), interleukin (IL6), growth differentiation factor 15 (GDF15) and PTX3, were determined in ESRD patients; events of death were recorded along one year to evaluate all-cause mortality and the association between inflammation and the studied polymorphisms. The allelic frequencies and genotyping distribution for IL6 and PTX3 in controls and ESRD patients were similar and in agreement with European reports. For the IL6 polymorphism, we found an association of the GG and CC genotype with higher IL6 levels; the CC genotype showed also high PTX3, hsCRP and GDF15 levels. For the PTX3 polymorphism, the AA genotype was linked to the highest values of hsCRP and IL6. The mortality rate after 1-year follow-up was 10.4%. The CC genotype (IL6 polymorphism), in deceased patients, was associated to increased levels of hsCRP, IL6 and PTX3, with low levels of GDF15 and with a highest mortality risk. The AA genotype for PTX3 polymorphism, in spite of the enhancement in inflammation, showed no significant impact on mortality. Our results show that the CC genotype of the IL6 polymorphism was associated with an enhanced inflammatory state and a poorer survival rate. Both IL6 and PTX3 polymorphisms seem to modulate the inflammatory response and, therefore, disease progression and outcome. Our data also highlights the importance of research on genetic variants that, although less frequent, may have significant biological value.

show abstract

Association of the long pentraxin PTX3 gene polymorphism (rs3816527) with migraine in an Iranian population

Cited by 11 publications

References 28 publications

Genetic overlap between temporomandibular disorders and primary headaches: A systematic review

Genetic overlap between temporomandibular disorders and primary headaches: A systematic review

Interleukin 6 (rs1800795) and pentraxin 3 (rs2305619) polymorphisms-association with inflammation and all-cause mortality in end-stage-renal disease patients on dialysis

Interleukin 6 (rs1800795) and Pentraxin 3 (rs2305619) Polymorphisms - Association with Inflammation and All-Cause Mortality in End-stage-renal Disease Patients on Dialysis

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