Is there any association between rs1303 (Pi*M3) variant of alpha‐1 antitrypsin gene and atrial septal aneurysm development?

Çağlar, Fatma Nihan Turhan; Işıksaçan, Nilgün; Bıyık, İsmail; Türeli, Hande Oktay; Katkat, Fahrettin; Karabulut, Dilay; Öztaş, Didem Melis; Uğurlucan, Murat

doi:10.1111/jocs.14256

Cited by 2 publications

(2 citation statements)

References 29 publications

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“…Previous studies have identified rs709932 and rs1303 as PiM2 and PiM3 variants, respectively [30][31][32]. In that context, despite these alleles are considered as "normal", in a Tunisian population, PiM2 allele has been identified as a risk factor for COPD with higher frequency in COPD patients than controls [33].…”

Section: Discussionmentioning

confidence: 99%

Haplotype in SERPINA1 (AAT) Is Associated with Reduced Risk for COPD in a Mexican Mestizo Population

Ponce-Gallegos

Pérez-Rubio

García-Carmona

et al. 2019

IJMS

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Protease inhibitor S (PiS) and protease inhibitor Z (PiZ) variants in the SERPINA1 gene are the main genetics factors associated with COPD; however, investigations about other polymorphisms are scanty. The aim of this study was to evaluate two missense single nucleotide polymorphisms (SNPs) (rs709932 and rs1303) in the SERPINA1 gene in Mexican mestizo patients with chronic obstructive pulmonary disease (COPD) related to tobacco smoking and biomass-burning exposure. 1700 subjects were genotyped and divided into four groups: COPD related to tobacco smoking (COPD-S, n = 297), COPD related to biomass-burning exposure (COPD-BB, n = 178), smokers without COPD (SWOC, n = 674), and biomass-burning exposed subjects (BBES, n = 551) by real-time PCR. Moreover, the patients’ groups were divided according to their exacerbations’ frequency. We carried out a haplotype analysis. We did not find differences in allele and genotype frequencies between groups in unadjusted and adjusted analyses, neither with these SNPs and lung function decline. Exacerbations’ frequency is not associated with these SNPs. However, we found a haplotype with major alleles (CT) associated with reduced risk for COPD (p < 0.05). Our analysis reveals that SNPs different from PiS and PiZ (rs709932 and rs1303) in the SERPINA1 gene are not associated with COPD and lung function decline in a Mexican mestizo population. However, a haplotype shaped by both major alleles (CT haplotype) is associated with reduced risk for COPD.

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Section: Discussionmentioning

confidence: 99%

Haplotype in SERPINA1 (AAT) Is Associated with Reduced Risk for COPD in a Mexican Mestizo Population

Ponce-Gallegos

Pérez-Rubio

García-Carmona

et al. 2019

IJMS

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“…11 Recently, genetic defect involving the Alpha-1 antitrypsin (A1AT) gene has been described in patients with ASA; presence of higher homozygote A1AT rs1303 (PiM3M3) variant may be associated with ASA development. 12 ASA may result from congenital malformation of the atrial septum involving the fossa ovalis region or the entire septum, inherent deficiency in connective tissue, or may be secondary to interatrial pressure difference. 2,3,13 ASA may be asymptomatic, or may show increased predisposition to migraine, 14,15 arrhythmias including atrial fibrillation, 16 thrombus formation within the aneurysmal sac, 2,17 and embolic stroke.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of Atrial Septal Aneurysm in Bangladeshi Subjects: Analysis of 2598 Subjects by Echocardiography

Islam

Majumder²,

Rahman

et al. 2020

Cardiovasc. j.

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Background: An atrial septal aneurysm (ASA) is a redundancy or saccular deformity of the atrial septum. This itself is usually of no clinical significance and is often diagnosed incidentally. However, it may be associated with significant cardiac and non-cardiac diagnoses, the most important of which are intracardiac shunts, arrhythmias, embolic stroke, and migraine. ASA may be present in 1 to 3% of general population. However, the prevalence of ASA in Bangladeshi subjects is not known. Methods: The study was carried out in a private consultation centre of Dhaka City during February 2018 to July 2019. All the patients who are referred for TTE were included in the study, the study has been carried out to find out the prevalence of this often-overlooked anatomical structure by trans-thoracic echocardiography Results: Out of 2598 echo studies, ASA was found in 111 subjects giving a prevalence of 4.27%. Majority of the patients with ASA belonged to 40-79-year age group; 42.3% were 40-59 years of age while 32.4% were of 60-79 years More than half (59.5%) had otherwise normal heart, 20.7% had ischaemic heart disease, 13.5% had left ventricular hypertrophy, 5.4% congenital heart disease, while 4.5% had chronic rheumatic heart disease. Conclusion: The ASA is often an incidental diagnosis, though it may not be so rare. Once diagnosed, other associations should be sought for. Cardiovasc. j. 2020; 13(1): 7-11

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Is there any association between rs1303 (Pi*M3) variant of alpha‐1 antitrypsin gene and atrial septal aneurysm development?

Cited by 2 publications

References 29 publications

Haplotype in SERPINA1 (AAT) Is Associated with Reduced Risk for COPD in a Mexican Mestizo Population

Haplotype in SERPINA1 (AAT) Is Associated with Reduced Risk for COPD in a Mexican Mestizo Population

Prevalence of Atrial Septal Aneurysm in Bangladeshi Subjects: Analysis of 2598 Subjects by Echocardiography

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