Matches in SemOpenAlex for { <https://semopenalex.org/work/W4310334140> ?p ?o ?g. }
- W4310334140 endingPage "1485" @default.
- W4310334140 startingPage "1478" @default.
- W4310334140 abstract "Background/aim: Alpha-1 antitrypsin (?1-AT) is a protease inhibitor that is largely released from liver cells. It inhibits neutrophil elastase and its deficiency increases the risk of developing chronic obstructive pulmonary disease (COPD). The frequency of ?1-AT deficiency has been reported with different prevalence rates in different parts of the world. The most common ?1-AT variant causing ?1-AT deficiency is the Pi*Z allele. In this study, we aimed to determine the frequency of the ?1-AT genotypic variant in COPD patients in our country. Materials and methods: In this study, 196 consecutive COPD patients admitted to our clinic were included. In addition to recording the demographic data of the volunteers, a dry drop of blood sample was taken from the fingertip for the SERPINA1 genotype study. Results: One hundred and fifty-eight (80.6%) of the patients were male and the mean age was 56.92 ± 9.84 years. A variant in the SERPINA1 gene was detected in a total of 14 (7.1%) COPD patients. Pi*ZZ homozygous variant was detected in only 1 (0.51%) patient, while Pi*MZ was detected in 3 (1.53%) patients. The Pi*S variant was never detected. Various rare heterozygous variants were detected in 9 (4.6%) patients and a single point mutation was found in one (0.51%) patient. Serum ?1-AT levels were significantly lower in patients with variants compared to the Pi*MM group (p < 0.001). Conclusion: In this study, which investigated the genotypic ?1-AT variant frequency in COPD patients for the first time in our country, we found that the percentage of homozygous Pi*ZZ patients was 0.51%, but when heterozygous ?1-AT gene variant and single point mutation were included, the frequency was 7.1%. At the same time, while the Pi*S variant was never detected, rare variants were found more frequently than expected." @default.
- W4310334140 created "2022-12-08" @default.
- W4310334140 creator A5010809956 @default.
- W4310334140 creator A5014615459 @default.
- W4310334140 creator A5020948414 @default.
- W4310334140 creator A5023310596 @default.
- W4310334140 creator A5025697202 @default.
- W4310334140 creator A5033846193 @default.
- W4310334140 creator A5060821645 @default.
- W4310334140 creator A5066010099 @default.
- W4310334140 creator A5085357475 @default.
- W4310334140 creator A5087207086 @default.
- W4310334140 date "2022-01-01" @default.
- W4310334140 modified "2023-09-26" @default.
- W4310334140 title "Frequency of alpha-1 antitrypsin deficiency and unexpected results in COPD patients in Turkey; rare variants are common" @default.
- W4310334140 cites W1980025102 @default.
- W4310334140 cites W2098263835 @default.
- W4310334140 cites W2104238967 @default.
- W4310334140 cites W2126501872 @default.
- W4310334140 cites W2137731450 @default.
- W4310334140 cites W2165156191 @default.
- W4310334140 cites W2334275983 @default.
- W4310334140 cites W2588299338 @default.
- W4310334140 cites W2606113276 @default.
- W4310334140 cites W2773851838 @default.
- W4310334140 cites W2790766488 @default.
- W4310334140 cites W2987082542 @default.
- W4310334140 cites W3011508755 @default.
- W4310334140 cites W3138821058 @default.
- W4310334140 cites W3143316780 @default.
- W4310334140 cites W3188531684 @default.
- W4310334140 cites W3199917567 @default.
- W4310334140 cites W4205823462 @default.
- W4310334140 cites W4211049690 @default.
- W4310334140 cites W4290772198 @default.
- W4310334140 doi "https://doi.org/10.55730/1300-0144.5486" @default.
- W4310334140 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36422500" @default.
- W4310334140 hasPublicationYear "2022" @default.
- W4310334140 type Work @default.
- W4310334140 citedByCount "2" @default.
- W4310334140 countsByYear W43103341402023 @default.
- W4310334140 crossrefType "journal-article" @default.
- W4310334140 hasAuthorship W4310334140A5010809956 @default.
- W4310334140 hasAuthorship W4310334140A5014615459 @default.
- W4310334140 hasAuthorship W4310334140A5020948414 @default.
- W4310334140 hasAuthorship W4310334140A5023310596 @default.
- W4310334140 hasAuthorship W4310334140A5025697202 @default.
- W4310334140 hasAuthorship W4310334140A5033846193 @default.
- W4310334140 hasAuthorship W4310334140A5060821645 @default.
- W4310334140 hasAuthorship W4310334140A5066010099 @default.
- W4310334140 hasAuthorship W4310334140A5085357475 @default.
- W4310334140 hasAuthorship W4310334140A5087207086 @default.
- W4310334140 hasBestOaLocation W43103341401 @default.
- W4310334140 hasConcept C104317684 @default.
- W4310334140 hasConcept C126322002 @default.
- W4310334140 hasConcept C135763542 @default.
- W4310334140 hasConcept C180754005 @default.
- W4310334140 hasConcept C181199279 @default.
- W4310334140 hasConcept C185592680 @default.
- W4310334140 hasConcept C2776317360 @default.
- W4310334140 hasConcept C2776780178 @default.
- W4310334140 hasConcept C2776914184 @default.
- W4310334140 hasConcept C2780535462 @default.
- W4310334140 hasConcept C2781044401 @default.
- W4310334140 hasConcept C54355233 @default.
- W4310334140 hasConcept C55493867 @default.
- W4310334140 hasConcept C71924100 @default.
- W4310334140 hasConcept C86803240 @default.
- W4310334140 hasConcept C90924648 @default.
- W4310334140 hasConceptScore W4310334140C104317684 @default.
- W4310334140 hasConceptScore W4310334140C126322002 @default.
- W4310334140 hasConceptScore W4310334140C135763542 @default.
- W4310334140 hasConceptScore W4310334140C180754005 @default.
- W4310334140 hasConceptScore W4310334140C181199279 @default.
- W4310334140 hasConceptScore W4310334140C185592680 @default.
- W4310334140 hasConceptScore W4310334140C2776317360 @default.
- W4310334140 hasConceptScore W4310334140C2776780178 @default.
- W4310334140 hasConceptScore W4310334140C2776914184 @default.
- W4310334140 hasConceptScore W4310334140C2780535462 @default.
- W4310334140 hasConceptScore W4310334140C2781044401 @default.
- W4310334140 hasConceptScore W4310334140C54355233 @default.
- W4310334140 hasConceptScore W4310334140C55493867 @default.
- W4310334140 hasConceptScore W4310334140C71924100 @default.
- W4310334140 hasConceptScore W4310334140C86803240 @default.
- W4310334140 hasConceptScore W4310334140C90924648 @default.
- W4310334140 hasIssue "5" @default.
- W4310334140 hasLocation W43103341401 @default.
- W4310334140 hasLocation W43103341402 @default.
- W4310334140 hasOpenAccess W4310334140 @default.
- W4310334140 hasPrimaryLocation W43103341401 @default.
- W4310334140 hasRelatedWork W1836610674 @default.
- W4310334140 hasRelatedWork W2154095597 @default.
- W4310334140 hasRelatedWork W2329146742 @default.
- W4310334140 hasRelatedWork W2343855333 @default.
- W4310334140 hasRelatedWork W2347679288 @default.
- W4310334140 hasRelatedWork W2379166800 @default.
- W4310334140 hasRelatedWork W2807182230 @default.
- W4310334140 hasRelatedWork W2967530929 @default.