Comparative analysis of Adam33 mutations in murine lung cancer cell lines by droplet digital PCR, real-time PCR and Insight Onco™ NGS

Kim, Soojin; Kim, Eun‐Hee; Rim, Kyung-Taek

doi:10.1007/s13273-018-0024-2

Cited by 3 publications

(1 citation statement)

References 55 publications

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“…5 ml blood sampleswere drawn from antecubital vein by aseptic technique in EDTA vacutainers. Fresh spirometry was not done due to restrictions of COVID pandemic and previous records of pulmonary lung function were used to con rm diagnosis of COPD as per international criteria [17]. PCR_RFLP: DNA was extracted using commercial kit by following manufacturer's instructions.…”

Section: Data Collection and Sampling Methodmentioning

confidence: 99%

Association Of ADAM33 SNP (RS528557) Gene Polymorphism With COPD In Pakistani Population

Ijaz

Hadi

Rehman

et al. 2022

PBMJ

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Chronic obstructive pulmonary disease (COPD) is a major health Problem worldwide. It is currently the fourth leading cause of death with the highest morbidity and mortality throughout the world. ADAM33 has been implicated in the etiology of asthma, another obstructive pulmonary disease. Research shows that its genetic polymorphism may play a pivotal role in COPD pathophysiology; however, data is still inconclusive and no research has been done on it in Pakistan. A total of 102 subjects (51 cases + 51 controls) were recruited. Blood samples were drawn for deoxyribonucleic acid (DNA) isolation from individuals. DNA extraction and Polymerase Chain Reaction (PCR) was optimized and restriction fragment length polymorphism (RFLP) was carried out by incubation at 37οC with digesting enzyme’ Fsel’ for minor allele rs528557. Data was analyzed by using SPSS version 26.0. Data for age, pack smoking/year, frequency of exacerbation and BMI was described by mean ± SD. Alleles and genotypes were described as proportions and percentages. Comparison of the said variables between two groups was performed by Chi-Square as applicable. G allele was found in all cases (100%) and in 74.5% controls at p= <0.001. On the other hand, the frequency of minor allele C was 11.8% and 29.4% in cases and controls respectively at p=0.03. Homozygous major genotype (G/G) was 88.2%, in controls versus 70.6% in cases (p=0.09). Heterozygous genotype (G/C) was 9.2% in controls and 25.5% in cases. Similarly homozygous minor genotype (C/C) was 0.8% in controls and 3.9% in cases respectively at p=0.56. Thus, we show that G allele of rs528557 may be associated with risk of COPD in Pakistani subjects.

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Section: Data Collection and Sampling Methodmentioning

confidence: 99%

Association Of ADAM33 SNP (RS528557) Gene Polymorphism With COPD In Pakistani Population

Ijaz

Hadi

Rehman

et al. 2022

PBMJ

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Association between F+1 polymorphism in a disintegrin and metalloprotease 33 (ADAM33) gene and chronic obstructive pulmonary disease susceptibility: An evidence-based meta-analysis

Feng

Mao

Pan

et al. 2019

Gene

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Association of ADAM33 gene with COPD pathophysiology: a case–control study

Soomro,

Mallah,

Nisa

et al. 2023

Egypt J Med Hum Genet

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Background Worldwide, Chronic Obstructive pulmonary disease (COPD) is a main cause of morbidity and mortality. Considering the global increase in the prevalence of COPD, research on the genetic factors that predispose to COPD is reviving. Recently, ADAM 33 has been found to be related to severe lung function decline and COPD. Aim and objective The present study is carried out with the main aim of determining the association of SNP, i.e., S2 (rs528557), with COPD. Method A case–control methodology is used to recruit participants. 50 COPD patients over 40 years of age and with a history of more than 20 pack years of cigarette smoking were enlisted. The same number of age and gender-matched controls with no COPD history were involved. PCR sequencing was used to analyze the genetic polymorphism of the ADAM 33 gene (SNP, i.e., S2 (rs528557). Statistical analysis was carried out using SPSS version 21. The Chi-square test was used to determine the difference in SNP rs528557 genotypes and alleles between controls and COPD. Results The findings of this study revealed that the G allele was present in all COPD cases (100%) and 72% of control (p = < 0.001). The minor C allele was 14% and 32% in COPD patients and control, respectively. The G/G genotype is overrepresented in cases (25.5%) than in the control (9.2%). The C/C genotype is overrepresented in controls (3.8%) than in COPD patients (0.9%). Conclusion The findings of this study demonstrate a significant association of the ADAM 33 gene (SNP, i.e., S2 (rs528557) with COPD pathophysiology in the studied group.

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Comparative analysis of Adam33 mutations in murine lung cancer cell lines by droplet digital PCR, real-time PCR and Insight Onco™ NGS

Cited by 3 publications

References 55 publications

Association Of ADAM33 SNP (RS528557) Gene Polymorphism With COPD In Pakistani Population

Association Of ADAM33 SNP (RS528557) Gene Polymorphism With COPD In Pakistani Population

Association between F+1 polymorphism in a disintegrin and metalloprotease 33 (ADAM33) gene and chronic obstructive pulmonary disease susceptibility: An evidence-based meta-analysis

Association of ADAM33 gene with COPD pathophysiology: a case–control study

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