Spectrum and distribution of CFTR gene mutations in asthma and chronic pancreatitis cases of North Indian population

Muthuswamy, Srinivasan; Agarwal, Sarita; Awasthi, Sanjay; Singh, Shweta; Dixit, Pratibha; Maurya, Nutan; Choudhuri, Gourdas

doi:10.1016/j.gene.2014.01.022

Cited by 10 publications

(31 citation statements)

References 47 publications

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“…Table 1 lists the characteristics of the 15 papers. In 7 studies asthma was physician-diagnosed using the Global Initiative for Asthma (GINA) guidelines or in accordance with the American Thoracic Society (ATS) guidelines [5,7,[11][12][13]16,17]. In 5 studies asthma diagnosis was based on questionnaire or self-reported [3,[8][9][10]15] and in 1 study asthma diagnosis was based on current wheeze and use of medications [6].…”

Section: Resultsmentioning

confidence: 99%

“…In 1 study the age of the participants was not mentioned [7]. In 6 studies the population size (N) was ≥ 500 [3,7,8,11,14,15].…”

Section: Resultsmentioning

confidence: 99%

“…When analyzing only those papers in which patients were Caucasians [3,4,[9][10][11][12]15,16], the summary OR was attenuated at 1.23 (0.81-1.87). When analyzing the papers in which patients were of Asian origin [5][6][7]13,14,17] the summary OR was elevated at 2.78 (1.99-3.89). Heterogeneity was possible in the Caucasian subgroup analysis as p = 0.03.…”

Section: Subgroup-analysesmentioning

confidence: 99%

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Risk of asthma in heterozygous carriers for cystic fibrosis: A meta-analysis

Nielsen

Qayum

Bouchelouche

et al. 2016

7.3 Cystic Fibrosis

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Background: Patients with cystic fibrosis (CF) have a higher prevalence of asthma than the background population, however, it is unclear whether heterozygous CF carriers are susceptible to asthma. Given this, a meta-analysis is necessary to determine the veracity of the association of CF heterozygosity with asthma. Methods: We screened the medical literature from 1966 to 2015 and performed a meta-analysis to determine the risk of asthma in CF heterozygotes vs. non-carriers. Results: Aggregating data from 15 studies, the odds ratio for asthma in CF heterozygotes compared with non-carriers was significantly elevated at 1.61 (95% CI: 1.18-2.21). When analyzing the studies considered of high quality in which asthma was diagnosed by a physician, the patients were N 18 years, or study size was ≥ 500, the trend remained the same, that heterozygous carriers of CF had elevated risk for asthma. Conclusions: The results show that heterozygous carriers for CF have a higher risk of asthma than non-carriers.

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Section: Resultsmentioning

confidence: 99%

“…In 1 study the age of the participants was not mentioned [7]. In 6 studies the population size (N) was ≥ 500 [3,7,8,11,14,15].…”

Section: Resultsmentioning

confidence: 99%

Section: Subgroup-analysesmentioning

confidence: 99%

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Risk of asthma in heterozygous carriers for cystic fibrosis: A meta-analysis

Nielsen

Qayum

Bouchelouche

et al. 2016

7.3 Cystic Fibrosis

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“…In spite of definitive role of CFTR gene in CP pathogenesis, [6] there are contradictory reports that claim no association of CFTR gene [7,8]. However, recent studies have reported an increased occurrence of CFTR gene mutations in alcohol related CP patients [9,10]. In this case report, we have demonstrated the coexistence of CFTR and SPINK1 gene mutations in an Idiopathic CP cases.…”

Section: Introductionmentioning

confidence: 61%

“…The CTSB was analysed for p.L26V mutation by PCR RFLP method [13]. The CFTR gene was examined for p.DF508, p.G542X, p.G551D, p.R117H, p.S549N and IVS8 T polymorphism as described by Muthuswamy et al, [10]. The patient was found be heterozygous for p.N34S and G551D in SPINK1 and CFTR gene.…”

Section: Case Reportmentioning

confidence: 99%

Co-existence of CFTR and SPINK1 Gene Mutations in an Idiopathic Chronic Pancreatitis Case

Muthuswamy¹

2014

Gene Technology

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Familial aggregation of CP suggests genetic factors for disease without definitive mode of inheritance. The hypothesized primary putative gene for CP includes SPINK1, CTSB, CTRC, PRSS1 and CFTR. These genes interact with each other and exhibit a variable phenotype in patients. The present report describes a male adult aged 42 years with a complaint of severe recurrent pain in the abdomen and weight loss and the age of onset was 35 years. The family history of chronic pancreatitis was not found. The biochemical examination revealed the exocrine insufficiency. Abdominal CT identified a dilated main pancreatic duct with numerous stones in the pancreas head. Genetic studies identified the patient to be heterozygous for p.N34S and G551D in SPINK1 and CFTR gene. Extended family screening identified his son (10 years) to have the both mutation p.N34S and G551D mutation in heterozygous state. Present findings suggest the need of genetic diagnosis in familial CP cases thereby precaution can be taken to delay or avoid the disease onset.

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IVS8-5T Allele of CFTR is the Risk Factor in Chronic Pancreatitis, Especially in Idiopathic Chronic Pancreatitis

Jiang

et al. 2020

The American Journal of the Medical Sciences

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Spectrum and distribution of CFTR gene mutations in asthma and chronic pancreatitis cases of North Indian population

Cited by 10 publications

References 47 publications

Risk of asthma in heterozygous carriers for cystic fibrosis: A meta-analysis

Risk of asthma in heterozygous carriers for cystic fibrosis: A meta-analysis

Co-existence of CFTR and SPINK1 Gene Mutations in an Idiopathic Chronic Pancreatitis Case

IVS8-5T Allele of CFTR is the Risk Factor in Chronic Pancreatitis, Especially in Idiopathic Chronic Pancreatitis

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