Bronchiectasis in adult patients: an expression of heterozygosity for <i>CFTR</i> gene mutations?

Casals, Teresa; Gracia, Javier de; Gallego, María Esther Quintana; Dorca, Jordi; Rodriguez-Sanchon, Benigno; Ramos, Oscar E.; Giménez, Joaquím; Cisteró-Bahíma, A; Olveira, Casilda; Estivill, Xavier

doi:10.1111/j.0009-9163.2004.00265.x

Cited by 82 publications

(56 citation statements)

References 25 publications

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“…T5 may be the most common atypical CF mutation worldwide. Prior studies have demonstrated that some individuals who carry T5 with a severe CF-causing mutation may have non-classic CF; others may have male infertility due to CBAVD [5,[17][18][19][20] , lung disease such as bronch iectasis [6,21,22] and chronic pancreatitis [23,24] ; and approximately 40% may be healthy and fertile as a consequence of incomplete penetrance [5,17] . In our study, the frequency of the T5 allele in the Chinese population was 3.8%, which is similar to the Vietnamese (3.7%) [14] , but lower than that in Caucasians (7.0%) [5,13] , and higher than in Japanese (0.6-1.0%) [14,15] and Koreans (1.7%) [16] .…”

Section: Discussionmentioning

confidence: 99%

Comparative analysis of common CFTR polymorphisms poly-T, TG-repeats and M470V in a healthy Chinese population

Qin¹,

Ding²,

Wei³

2008

WJG

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Huang Q, Ding W, Wei MX. Comparative analysis of common CFTR polymorphisms poly-T, TG-repeats and M470V in a healthy Chinese population. World J Gastroenterol 2008; 14(12): 1925-1930 INTRODUCTIONThe cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7q31 spans approximately 250 kb of DNA and encodes 27 exons encodes [1] . The CFTR gene encodes a cAMP-and ATP-dependent chloride channel that is present in the apical membrane of the epithelial cells that line most exocrine glands [2] . Phosphorylation of the regulatory domain by protein kinase A, followed by binding and hydrolysis of ATP at both nucleotide-binding domains, regulates the transport of chloride ions through the channel [3] . Absence, reduced levels, or malfunction of the CFTR protein results in cystic fibrosis (CF), and CF-like diseases such as congenital bilateral absence of the vas deferens (CBAVD) [4,5] , bronchiectasis [6] and chronic pancreatitis [7] . Since the discovery of the CFTR gene, more than 1000 mutations and 200 polymorphisms have been identified [8] . CF is one of the most common autosomal recessive disorders in Caucasians, with an incidence of approximately 1 in 2500 Caucasian births and a carrier frequency of approximately 1 in 25. However, in Asians, the prevalence of CF is very low, with an incidence of approximately 1 in 100 000, and in particular, the severe mutations, such as ∆F508, G542X and N1303K, are rarely found in Asians. Previous studies have demonstrated that polymorphisms outside the CFTR gene [9,10] , as well as within the gene, may affect transcription or function of the CFTR protein and modify the phenotype of some CF mutations. It has been mentioned that poly-T, TG-repeats and M470V polymorphisms play a role in the development of CF-like diseases. The poly-T tract located at the junction of intron Abstract AIM: To investigate the three important cystic fibrosis transmembrane conductance regulator (CFTR ) haplotypes poly-T, TG-repeats and the M470V polymorphisms in the Chinese population, and to compare their distribution with that in Caucasians and other Asian populations. RAPID COMMUNICATION METHODS:Genomic DNA was extracted from blood leukocytes. Exons 9 and 10 of the CFTR gene were obtained through polymerase chain reaction (PCR). Exon 9 DNA sequences were directly detected by an automated sequencer and poly-T and TG-repeats were identified by direct sequence analysis. Pure exon 10 PCRamplified products were digested by Hph Ⅰ restriction enzyme and the M470V mutation was detected by the AGE photos of digestion products.RESULTS: T7 was the most common (93.6%) haplotype and the (TG)11 frequency of 57.2% and (TG)12 frequency of 40.9% were dominant haplotypes in the junction of intron 8 (IVS-8) and exon 9. The frequency of T5 was 3.8% and all T5 allele tracts (10 alleles) were joined with (TG)12. Four new alleles of T6 (1.5%) were found in three healthy individuals. In exon 10, the V allele (56.1%) was slightly more frequent than the M allele (43.9%), and the M/V (45.5%) was the dominan...

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Section: Discussionmentioning

confidence: 99%

Comparative analysis of common CFTR polymorphisms poly-T, TG-repeats and M470V in a healthy Chinese population

Qin¹,

Ding²,

Wei³

2008

WJG

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“…Casals et al performed CFTR gene analysis in 55 adult patients with BR and found mutations in 20 patients (36%); in 14 of the patients (25%) only one mutant allele (in most cases the more functional M470 allele) was detected. 20 They concluded that CFTR heterozygous mutations might contribute to the development of BR. It should be noted, however, that Pasteur et al did not find an excess of heterozygous CFTR mutations in their study of adult BR.…”

Section: Etiologymentioning

confidence: 99%

Coexistence of Bronchiectasis and Rheumatoid Arthritis: Revisited

2013

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The presence of bronchiectasis (BR) in patients with rheumatoid arthritis (RA) has been recognized for many decades; nevertheless, little research has been undertaken in this area. It is important to recognize that BR coexistent with RA differs from the other types of BR. The purpose of this descriptive review was to delineate the epidemiology, etiology, risk factors, pulmonary function testing, imaging, prognosis and management of concomitant BR and RA. To inform our study we searched the PubMed, EMBASE, CINAHL, and MEDLINE databases, using combinations of the following key words: computed tomography, lung function tests, rheumatoid arthritis, bronchiectasis, biological agents, and interstitial lung disease. The number of published papers covering this topic is limited, but several relevant conclusions can be drawn. Patients with concomitant RA and BR have worse obstructive airways disease, increased susceptibility to recurrent pulmonary infections, faster lung function decline, and higher mortality, compared with subjects with either RA or BR alone. The use of disease-modifying anti-rheumatic drugs (both biological and non-biological) for RA in RA-BR patients imparts a further challenge in managing these patients. Although there are not any published guidelines on the management of coexisting RA-BR, we have attempted to provide such recommendations, based on the literature review and our experience.

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“…An increased incidence of CFTR mutation has been found in bronchiectasis and at least one CFTR mutation was reported in 10% -50% of a series of patients in different studies (Girodon et al 1997;Bombieri et al 1998;Casals et al 2004;King et al 2004). Often in these patients, only one mutation is CF-causing and no particular mutations have been associated only with bronchiectasis.…”

Section: Cftr Mutations and Disseminated Bronchiectasismentioning

confidence: 99%