Prevalence of Alpha-1 Antitrypsin High-risk Variants in Mexican Mestizo Population and Their Association With Lung Function Values

Pérez-Rubio, Gloría; Jiménez-Valverde, Luis Octavio; Ramírez‐Venegas, Alejandra; Camarena, Ángel; Sansores, Raúl H; Flores-Trujillo, Fernando; Reséndiz-Hernández, Juan M.; Falfán-Valencia, Ramcés

doi:10.1016/j.arbr.2014.11.002

Cited by 9 publications

(6 citation statements)

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“…Mutations in DIP2C have been identified in lung cancer samples [ 40 ]. Among the 15 suggestive DMPs, cg19904425 ( SERPINA12 ) is 127kb away from SERPINA1 , an important gene for COPD [ 41 ] and lung function [ 42 ]. A recent exome-wide association analysis [ 43 ] reported a rare variant (rs140198372) in SERPINA12 30kb away from cg19904425 was associated with airflow limitation.…”

Section: Discussionmentioning

confidence: 99%

Epigenome-Wide Association Study of Chronic Obstructive Pulmonary Disease and Lung Function in Koreans

et al. 2017

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Aim:To identify differentially methylated probes (DMPs) and regions (DMRs) in relation to chronic obstructive pulmonary disease (COPD) and lung function traits.Methods:We performed an epigenome-wide association study of COPD and spirometric parameters, including forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC, in blood DNA using the Infinium HumanMethylation450 (n = 100, a Korean COPD cohort).Results:We found one significant DMP (cg03559389, DIP2C) and 104 significant DMRs after multiple-testing correction. Of these, 34 DMRs mapped to genes differential expressed with respect to the same trait. Five of the genes were associated with more than two traits: CTU2, USP36, ZNF516, KLK10 and CPT1B.Conclusion:We identified novel differential methylation loci related to COPD and lung function in blood DNA in Koreans and confirmed previous findings in non-Asians. Epigenetic modification could contribute to the etiology of these phenotypes.

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Section: Discussionmentioning

confidence: 99%

Epigenome-Wide Association Study of Chronic Obstructive Pulmonary Disease and Lung Function in Koreans

et al. 2017

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“…Alpha-1 antitrypsin deficiency in COPD patients is another pending issue [ 28 ]. Despite its low prevalence [ 29 ], the clinical implications of this genetic form of COPD, the possibility of a specific treatment and the accessible noninvasive diagnostic procedure make it one aspect that should be generalized. Accordingly, indications for active case searches have recently been updated in Spain [ 30 ].…”

Section: Discussionmentioning

confidence: 99%

Guideline Adherence in Outpatient Clinics for Chronic Obstructive Pulmonary Disease: Results from a Clinical Audit

et al. 2016

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ObjectivesPrevious clinical audits of COPD have provided relevant information about medical intervention in exacerbation admissions. The present study aims to evaluate adherence to current guidelines in COPD through a clinical audit.MethodsThis is a pilot clinical audit performed in hospital outpatient respiratory clinics in Andalusia, Spain (eight provinces with more than 8 million inhabitants), including 9 centers (20% of the public centers in the area) between 2013 and 2014. Cases with an established diagnosis of COPD based on risk factors, clinical symptoms, and a post-bronchodilator FEV1/FVC ratio of less than 0.70 were deemed eligible. The performance of the outpatient clinics was benchmarked against three guidance documents available at the time of the audit. The appropriateness of the performance was categorized as excellent (>80%), good (60−80%), adequate (40−59%), inadequate (20−39%), and highly inadequate (<20%).ResultsDuring the audit, 621 clinical records were audited. Adherence to the different guidelines presented a considerable variability among the different participating hospitals, with an excellent or good adherence for symptom recording, MRC or CAT use, smoking status evaluation, spirometry, or bronchodilation therapy. The most outstanding areas for improvement were the use of the BODE index, the monitoring of treatments, the determination of alpha1-antitrypsin, the performance of exercise testing, and vaccination recommendations.ConclusionsThe present study reflects the situation of clinical care for COPD patients in specialized secondary care outpatient clinics. Adherence to clinical guidelines shows considerable variability in outpatient clinics managing COPD patients, and some aspects of the clinical care can clearly be improved.

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“…The total population of participants was 1138, of which 988 were smokers: 330 patients with COPD from the COPD Clinic, 658 smokers without COPD (SNC) from the Smoking Cessation Clinic and 150 healthy nonsmoker subjects without clinical evidence of respiratory diseases. Previously, a part of these study groups were analyzed for other genes [23,24]. All participants were Mexican by descent (Mexican parents and grandparents), over 40 years in age and the smokers had smoked at least ten cigarettes a day for 10 years or more.…”

Section: Methodsmentioning

confidence: 99%

Genetic Polymorphisms of Matrix Metalloproteinases and Protein Levels in Chronic Obstructive Pulmonary Disease in a Mexican Population

et al. 2015

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Prevalence of Alpha-1 Antitrypsin High-risk Variants in Mexican Mestizo Population and Their Association With Lung Function Values

Cited by 9 publications

References 26 publications

Epigenome-Wide Association Study of Chronic Obstructive Pulmonary Disease and Lung Function in Koreans

Epigenome-Wide Association Study of Chronic Obstructive Pulmonary Disease and Lung Function in Koreans

Guideline Adherence in Outpatient Clinics for Chronic Obstructive Pulmonary Disease: Results from a Clinical Audit

Genetic Polymorphisms of Matrix Metalloproteinases and Protein Levels in Chronic Obstructive Pulmonary Disease in a Mexican Population

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