Targeting both rs12979860 and rs8099917 Polymorphisms with a Single-Tube High-Resolution Melting Assay for
            <i>IL28B</i>
            Genotyping

Poon, Kok Siong; Ho, S.; Tang, Julian W.; Chua, Cui Wen; Chiu, Lily; Koay, Evelyn Siew-Chuan

doi:10.1128/jcm.01718-12

Cited by 5 publications

(4 citation statements)

References 11 publications

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“…Poon et al have recently reported, this method can be readily adopted by any molecular diagnostic laboratory with HRM capability and will be clinically beneficial in predicting treatment response in HCV genotype 1 infected patients, also this method was sensitive and cost-effective (Poon et al, 2012).…”

Section: Discussionmentioning

confidence: 98%

High Resolution Melting Curve Assay for Detecting rs12979860 IL28B Polymorphisms Involved in Response of Iranian Patients to Chronic Hepatitis C Treatment

Fateh¹,

Aghasadeghi²,

Keyvani³

et al. 2015

Asian Pacific Journal of Cancer Prevention

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Background: A recent genome-wide association study (GWAS) on patients with chronic hepatitis C (CHC) treated with peginterferon and ribavirin (pegIFN-α/RBV) identified a single nucleotide polymorphism (SNP) on chromosome 19 (rs12979860) which was strongly associated with a sustained virological response (SVR). The aim of this study was twofold: to study the relationship between IL28B rs12979860 and sustained virological response (SVR) to pegIFN-α/RVB therapy among CHC patients and to detect the rs12979860 polymorphism by high resolution melting curve (HRM) assay as a simple, fast, sensitive, and inexpensive method. Materials and Methods: The study examined outcomes in 100 patients with chronic hepatitis C in 2 provinces of Iran from December 2011 to June 2013. Two methods were applied to detect IL28B polymorphisms: PCR-sequencing as a gold standard method and HRM as a simple, fast, sensitive, and inexpensive method. Results: The frequencies of IL28B rs12979860 CC, CT, and TT alleles in chronic hepatitis C genotype 1a patients were 10% (10/100), 35% (35/100), and 6% (6/100) and in genotype 3a were 13% (13/100), 31% (31/100), and 5% (5/100), respectively. In genotype 3a infected patients, rs12979860 (CC and CT alleles) and in genotype 1a infected patients (CC allele) were significantly associated with a sustained virological response (SVR). The SVR rates for CC, CT and TT (IL28B rs12979860) were 18%, 34% and 4%, respectively. Multiple logistic regression analysis identified two independent factors that were significantly associated with SVR: IL-28B genotype (rs 12979860 CC vs TT and CT; odds ratio [ORs], 7.86 and 4.084, respectively), and HCV subtype 1a (OR, 7.46). In the present study, an association between SVR rates and IL28B polymorphisms was observed. Conclusions: The HRM assay described herein is rapid, inexpensive, sensitive and accurate for detecting rs12979860 alleles in CHC patients. This method can be readily adopted by any molecular diagnostic laboratory with HRM capability and will be clinically beneficial in predicting treatment response in HCV genotype 1 and 3 infected patients. In addition, it was demonstrated that CC and CT alleles in HCV-3a and the CC allele in HCV-1a were significantly associated with response to pegIFN-α/RBV treatment. The present results may help identify subjects for whom the therapy might be successful.

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Section: Discussionmentioning

confidence: 98%

High Resolution Melting Curve Assay for Detecting rs12979860 IL28B Polymorphisms Involved in Response of Iranian Patients to Chronic Hepatitis C Treatment

Fateh¹,

Aghasadeghi²,

Keyvani³

et al. 2015

Asian Pacific Journal of Cancer Prevention

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“…Blood collection on filter paper requires a small amount of sample, is minimally invasive and produces a specimen that is inexpensive to ship and needs no special storage conditions. The extremely high sensitivity of this technology, which is able to study a very low amount of DNA recovered from DBS samples, could potentially allow similar studies in Brought to you by | Universitat de Barcelona Authenticated Download Date | 4/27/18 7:13 PM residual DNA which remains in standard clinical serum samples [22].…”

Section: Discussionmentioning

confidence: 99%

Rapid detection of Mmalton α1-antitrypsin deficiency allele by real-time PCR and melting curves in whole blood, serum and dried blood spot samples

Belmonte¹,

Montoto

Miravitlles³

et al. 2016

Clinical Chemistry and Laboratory Medicine (CCLM)

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AbstractαWe tested the applicability of this new technique for the identification of the Mmalton allele in AATD screening using whole blood, dried blood spot (DBS) and serum samples. Mmalton heterozygote and homozygote samples and samples without this allele were included in the study.This new assay is able to detect homozygous and heterozygous genotypes in the same reaction and in a single step, giving matching results with those obtained byThis technology is optimal for working with small amounts of DNA, such as in DBS and even with residual DNA present in serum samples, allowing improvement in routine algorithms of AATD diagnosis or large-scale screening. This method will be useful for obtaining more in depth knowledge of the real incidence of the Mmalton variant.

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“…In our cohort, there is a significantly higher SVR of 73.8% among patients with hepatitis C genotype 1 infection that is similar to Korea [ 9 ] and Taiwan [ 10 ]. This may be due to the IL28B CC polymorphism prevalent in our predominantly Chinese population [ 17 ]. Singapore comprises 74.3% Chinese, 13.3% Malays and 9.1% Indians [ 13 ].…”

Section: Discussionmentioning

confidence: 99%

“…The IL28B CC genotype, which is the favourable genotype, is the predominant genotype in China [ 16 ]. Singapore, which is a multi-ethnic country with a predominantly Chinese population, also demonstrates a high proportion of CC genotype [ 17 ].…”

Section: Introductionmentioning

confidence: 99%

Real world experience with pegylated interferon and ribavirin in hepatitis C genotype 1 population with favourableIL28Bpolymorphism

Ekstrom

Kumar

Zhao

et al. 2016

Gastroenterol. Rep.

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Background and aim: Conventional hepatitis C treatment using pegylated interferon (PEG-IFN) and ribavirin is associated with significant side effects. IL28B polymorphism can predict response to treatment, with CC genotype having a better response. ITPA gene deficiency protects against clinically significant anaemia induced by treatment. The purpose of this study was to determine IL28B polymorphism and ITPA variation among hepatitis C genotype 1 patients who have undergone therapy with PEG-IFN and ribavirin and their association with sustained viral response (SVR). Methods: All hepatitis C genotype 1 patients who had been treated with PEG-IFN and ribavirin over the past 10 years were identified by available medical records and were contacted by letter of invitation to participate in the study. Blood samples for IL28B and ITPA genotyping were obtained. Medical records were reviewed for verification of treatment response, development of anaemia and if treatment reduction was required during the treatment. Results: A total of 61 patients with hepatitis C genotype 1 were treated with PEG-IFN and ribavirin, of whom 42 agreed to participate in the study. Mean age was 45.6±12.9 years at time of treatment, and 83.3% of patients were males. Thirty-three (78.6%) had IL28B CC genotype, of whom 25 (75.8%) obtained SVR compared with only 3 of 9 (33.3%) non C/C genotype patients who achieved SVR (P=0.041). Eleven (26.1%) patients had ITPA AC genotype, and 30 (71.4%) had CC genotype. There was no statistically significant difference between ITPA AC and CC genotypes in predicting clinically significant anaemia (45.5% vs 63.3%, P=0.302). Even among patients who developed anaemia, 70.8% still managed to achieve SVR. Treatment reduction also had no impact on SVR. Conclusion: Hepatitis C genotype 1 patients should be informed of the response rate for treatment with PEG-IFN and ribavirin in a population with favourable IL28B genotype before consideration of newer therapeutic options.

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Targeting both rs12979860 and rs8099917 Polymorphisms with a Single-Tube High-Resolution Melting Assay for IL28B Genotyping

Cited by 5 publications

References 11 publications

High Resolution Melting Curve Assay for Detecting rs12979860 IL28B Polymorphisms Involved in Response of Iranian Patients to Chronic Hepatitis C Treatment

High Resolution Melting Curve Assay for Detecting rs12979860 IL28B Polymorphisms Involved in Response of Iranian Patients to Chronic Hepatitis C Treatment

Rapid detection of Mmalton α1-antitrypsin deficiency allele by real-time PCR and melting curves in whole blood, serum and dried blood spot samples

Real world experience with pegylated interferon and ribavirin in hepatitis C genotype 1 population with favourableIL28Bpolymorphism

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