Heritability of<i>IL-1A</i>Gene Promoter Polymorphism in Patients With Coronary Artery Disease: A Trio-Family Study

Haroon, Javeria; Hussain, Shahzad; Javed, Qamar

doi:10.1309/lm1sapzqrnqt4bo9

Cited by 4 publications

(4 citation statements)

References 25 publications

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“…IL-1A gene polymorphism was closely related to many diseases. Earlier studies have confirmed that IL-1A gene polymorphism is related to renal cell carcinoma (Wang et al, 2017), coronary heart disease (Haroon, Hussain, & Javed, 2015) and ischaemic stroke (Olsson et al, 2012). Existing researches have revealed the association between polymorphisms of IL-1A and several gynaecological diseases, such as endometriosis (Hata et al, 2013), polycystic ovary syndrome (Kolbus et al, 2007) and cervical cancer (Wang, Zhang, Walayat, Chen, & Wang, 2011 (Hata et al, 2013).…”

Section: Introductionmentioning

confidence: 94%

Polymorphisms in IL‐1A are associated with endometrial cancer susceptibility among Chinese Han population: A case–control study

Liu

Sun

et al. 2020

Int J Immunogenetics

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Endometrial cancer (EC) is one of the most common malignant tumours of the female genital tract, and it has become a serious malignant disease of the female genital tract in China. Existing researches have revealed the association between polymorphisms of IL‐1A and several gynaecological diseases. In this research, we analysed the association between IL‐1A gene polymorphisms and endometrial cancer susceptibility in Chinese female population. A total of 81 patients and 198 healthy people were selected. Odds ratio (OR) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression. Genetic models and analyses showed that IL‐1A rs3783550 TT and rs3783546 CC increased the risk of endometrial cancer under the recessive model, respectively (rs3783550: OR = 2.80, 95%CI: 1.32–5.92, p = .008; rs3783546: OR = 2.79, 95%CI: 1.32–5.89, p = .008). In the recessive model, we also found that both IL‐1A rs1609682 and IL‐1A rs3783521 increased the risk of endometrial cancer, respectively (rs1609682: OR = 2.79, 95%CI: 1.32–5.89, p = .0081; rs3783521: OR = 2.80, 95%CI: 1.32–5.92, p = .008). Haplotype analysis was performed that did not reveal any significant results. In summary, IL‐1A rs3783550, rs3783546, rs1609682 and rs3783521 polymorphisms may be associated with an increased risk of endometrial cancer in Chinese female populations.

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Section: Introductionmentioning

confidence: 94%

Polymorphisms in IL‐1A are associated with endometrial cancer susceptibility among Chinese Han population: A case–control study

Liu

Sun

et al. 2020

Int J Immunogenetics

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“…The IL-1A gene manifests polymorphisms at several loci. A single base substitution (C/T) at position (-889) (rs1800587) is linked with elevated cytokine synthesis [6]. IL-1B gene has a CT bi-allelic polymorphism (rs16944) in the promoter region at position -511 [7].…”

Section: Introductionmentioning

confidence: 99%

Interleukin-1 gene variants and the risk of non-syndromic microtia

Bekerecioğlu¹,

Büyükgüral²,

Pehlıvan³

2018

Pau Med J

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Microtia is a congenital anomaly, manifested by a small and disfigured auricle. Interleukin (IL) 1 is an important mediator of inflammation and cartilage destruction, This study is aimed at investigating association of IL-1A (-889) and IL-1B (-511) variants in a Turkish patient population with microtia. Meterials and Methods: Nineteen patients diagnosed with microtia and 40 healthy controls were enrolled to the study. The IL-1A (-889) and IL-1B (-511) variants were evaluated using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. For statistical analysis, SPSS version 22.0 was used. Results: The genotype distribution of the IL-1A (-889) variant was statistically different between the cases and the control group. IL-1A-889 CC genotype was lower in microtia cases while TT genotype was more prevalent in microtia cases, respectively (p=0.008, p=0.008). High difference was also observed when the patient group and the control group were compared according to IL-1 (-889) CT+TT (p=0.003). IL-1A (-889) C allele was lower in microtia patients and T allele was higher in patients (p=0.005). The allele frequency and genotype distribution of IL-1B (-511) CT variant did not show any statistically difference between patients and controls (p>0.05). Conclusion: To our knowledge, for the first time in the literature we have demonstrated a significant association of the IL-1A (-889) functional variant with microtia in a Turkish cohort.

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“…It is reported that premature CAD is closely associated with specific family history (Yucel et al 2012). A close relative with CAD increases the risk of developing CAD (Mayer et al 2007;Haroon et al 2015). Moreover, a mounting number of susceptibility genes linked to CAD have been reported (O'Donnell et al 2011;Schunkert et al 2011).…”

Section: Introductionmentioning

confidence: 99%

The T Allele of rs8075977 in the 5′-Flanking Region of the PEDF Gene Is Associated with Reduced Risk of Coronary Artery Disease in Elderly Chinese Men

Guo

Wang

et al. 2017

Tohoku J. Exp. Med.

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Coronary artery disease (CAD) is a multifactorial disease with a genetic component. Pigment epitheliumderived factor (PEDF) exerts anti-inflammatory, anti-oxidant, anti-thrombotic, and anti-angiogenic effects and thus has received increasing attention as a sensitive biomarker of atherosclerosis and CAD. To explore the potential association between PEDF single nucleotide polymorphisms (SNPs) and CAD, we performed this case-control study of consecutive elderly Chinese Han male patients (n = 416) and age-matched male controls (n = 528) without a history of CAD or electrocardiographic signs of CAD. The enrolled CAD patients (age ≥ 60 years) are not biologically related. A tag approach was used to examine 100% of common variations in the PEDF gene (r 2 ≥ 0.8, minor allele frequency > 0.1). PEDF tag SNPs (tSNPs) were selected using the HapMap Data-CHB which describes the common patterns of human DNA sequence variation and Tagger program. SNPs were genotyped using ligase detection reaction (LDR). Seven tSNPs (rs8075977, rs11658342, rs1136287, rs12603825, rs12453107, rs6828 and rs11078634) were selected. Among them, only one SNP, rs8075977 (C/T) located in the 5'-flanking region, showed the significant effect on the susceptibility to CAD. The frequency of its T allele was significantly higher in the controls (52.7%) than that in the CAD group (46.2%) (adjusted OR = 0.88, 95% CI: 0.80-0.96; P = 0.005).In conclusion, the T allele of rs8075977 in the 5'-flanking region of the PEDF gene may be protective for CAD. Conversely, the C allele at this variation site is associated with CAD in elderly Chinese Han men.

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Heritability ofIL-1AGene Promoter Polymorphism in Patients With Coronary Artery Disease: A Trio-Family Study

Cited by 4 publications

References 25 publications

Polymorphisms in IL‐1A are associated with endometrial cancer susceptibility among Chinese Han population: A case–control study

Polymorphisms in IL‐1A are associated with endometrial cancer susceptibility among Chinese Han population: A case–control study

Interleukin-1 gene variants and the risk of non-syndromic microtia

The T Allele of rs8075977 in the 5′-Flanking Region of the PEDF Gene Is Associated with Reduced Risk of Coronary Artery Disease in Elderly Chinese Men

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