Polymorphisms

14,000,000 Leading Edge Experts on the ideXlab platform

Scan Science and Technology

Contact Leading Edge Experts & Companies

Scan Science and Technology

Contact Leading Edge Experts & Companies

The Experts below are selected from a list of 398580 Experts worldwide ranked by ideXlab platform

Jason T Blackard - One of the best experts on this subject based on the ideXlab platform.

  • the distribution of hepatitis b virus surface antigen Polymorphisms at positions associated with vaccine escape
    Journal of Medical Virology, 2020
    Co-Authors: Mahad Raheel, Wonderful T Choga, Jason T Blackard
    Abstract:

    : Hepatitis B virus (HBV) infects over 250 million people worldwide. Vaccination is effective at preventing infection, although several mutations within the "a" determinant region of the HBV surface antigen (HBsAg) are associated with vaccine escape. We evaluated the frequency, genotype, and global distribution of Polymorphisms at sites associated with vaccine escape in 4244 unique full-length HBV genomes. The "a" determinant within the Surface gene was inspected for Polymorphisms at sites identified previously associated with vaccine escape. Nearly, 268 (6.3%) sequences from 36 countries contained a polymorphism at a site associated with vaccine escape including 22 genotype A, 99 genotype B, 93 genotype C, 32 genotype D, 14 genotype E, 3 genotype F, 2 genotype G, and 3 genotype I. In genotype A, the most common polymorphism occurred at M133. In genotype B, Q129 and M133 occurred 45 and 51 times, respectively, accounting for 94% of Polymorphisms. Polymorphisms at G145 were most frequent in genotype C, while P120 was most common in genotype D. Among all genotypes, Polymorphisms at M133 were the most common and accounted for 30.9% of Polymorphisms. Polymorphisms at T116, P120, F134, K141, and P142 occurred in geographically diverse locations, whereas Polymorphisms at Q129, M133, D144, and G145 were concentrated in East Asia. While the sample size is large, this approach relied on convenience sampling within each country, and many countries have no data available, thereby highlighting the need for additional routine surveillance of surface antigen mutations associated with vaccine escape. METHODS: We evaluated the frequency, genotype, and global distribution of Polymorphisms at sites associated with vaccine escape in 4,244 unique full-length HBV genomes. The 'a' determinant within the Surface gene was inspected for Polymorphisms at sites identified previously associated with vaccine escape. RESULTS: 268 (6.3%) sequences from 36 countries contained a polymorphism at a site associated with vaccine escape including 22 genotype A, 99 genotype B, 93 genotype C, 32 genotype D, 14 genotype E, 3 genotype F, 2 genotype G, and 3 genotype I. In genotype A, the most common polymorphism occurred at M133. In genotype B, Q129 and M133 occurred 45 and 51 times, respectively, accounting for 94% of Polymorphisms. Polymorphisms at G145 were most frequent in genotype C, while P120 was most common in genotype D. Amongst all genotypes, Polymorphisms at M133 were the most common and accounted for 30.9% of Polymorphisms. Polymorphisms at T116, P120, F134, K141, and P142 occurred in geographically diverse locations, whereas Polymorphisms at Q129, M133, D144, and G145 were concentrated in East Asia. CONCLUSION: While the sample size is large, this approach relied on convenience sampling within each country, and many countries have no data available, thereby highlighting the need for additional routine surveillance of surface antigen mutations associated with vaccine escape. This article is protected by copyright. All rights reserved.

  • the distribution of hepatitis b virus surface antigen Polymorphisms at positions associated with vaccine escape
    Journal of Medical Virology, 2020
    Co-Authors: Mahad Raheel, Wonderful T Choga, Jason T Blackard
    Abstract:

    Hepatitis B virus (HBV) infects over 250 million people worldwide. Vaccination is effective at preventing infection, although several mutations within the "a" determinant region of the HBV surface antigen (HBsAg) are associated with vaccine escape. We evaluated the frequency, genotype, and global distribution of Polymorphisms at sites associated with vaccine escape in 4244 unique full-length HBV genomes. The "a" determinant within the Surface gene was inspected for Polymorphisms at sites identified previously associated with vaccine escape. Nearly, 268 (6.3%) sequences from 36 countries contained a polymorphism at a site associated with vaccine escape including 22 genotype A, 99 genotype B, 93 genotype C, 32 genotype D, 14 genotype E, 3 genotype F, 2 genotype G, and 3 genotype I. In genotype A, the most common polymorphism occurred at M133. In genotype B, Q129 and M133 occurred 45 and 51 times, respectively, accounting for 94% of Polymorphisms. Polymorphisms at G145 were most frequent in genotype C, while P120 was most common in genotype D. Among all genotypes, Polymorphisms at M133 were the most common and accounted for 30.9% of Polymorphisms. Polymorphisms at T116, P120, F134, K141, and P142 occurred in geographically diverse locations, whereas Polymorphisms at Q129, M133, D144, and G145 were concentrated in East Asia. While the sample size is large, this approach relied on convenience sampling within each country, and many countries have no data available, thereby highlighting the need for additional routine surveillance of surface antigen mutations associated with vaccine escape.

Wonderful T Choga - One of the best experts on this subject based on the ideXlab platform.

  • the distribution of hepatitis b virus surface antigen Polymorphisms at positions associated with vaccine escape
    Journal of Medical Virology, 2020
    Co-Authors: Mahad Raheel, Wonderful T Choga, Jason T Blackard
    Abstract:

    : Hepatitis B virus (HBV) infects over 250 million people worldwide. Vaccination is effective at preventing infection, although several mutations within the "a" determinant region of the HBV surface antigen (HBsAg) are associated with vaccine escape. We evaluated the frequency, genotype, and global distribution of Polymorphisms at sites associated with vaccine escape in 4244 unique full-length HBV genomes. The "a" determinant within the Surface gene was inspected for Polymorphisms at sites identified previously associated with vaccine escape. Nearly, 268 (6.3%) sequences from 36 countries contained a polymorphism at a site associated with vaccine escape including 22 genotype A, 99 genotype B, 93 genotype C, 32 genotype D, 14 genotype E, 3 genotype F, 2 genotype G, and 3 genotype I. In genotype A, the most common polymorphism occurred at M133. In genotype B, Q129 and M133 occurred 45 and 51 times, respectively, accounting for 94% of Polymorphisms. Polymorphisms at G145 were most frequent in genotype C, while P120 was most common in genotype D. Among all genotypes, Polymorphisms at M133 were the most common and accounted for 30.9% of Polymorphisms. Polymorphisms at T116, P120, F134, K141, and P142 occurred in geographically diverse locations, whereas Polymorphisms at Q129, M133, D144, and G145 were concentrated in East Asia. While the sample size is large, this approach relied on convenience sampling within each country, and many countries have no data available, thereby highlighting the need for additional routine surveillance of surface antigen mutations associated with vaccine escape. METHODS: We evaluated the frequency, genotype, and global distribution of Polymorphisms at sites associated with vaccine escape in 4,244 unique full-length HBV genomes. The 'a' determinant within the Surface gene was inspected for Polymorphisms at sites identified previously associated with vaccine escape. RESULTS: 268 (6.3%) sequences from 36 countries contained a polymorphism at a site associated with vaccine escape including 22 genotype A, 99 genotype B, 93 genotype C, 32 genotype D, 14 genotype E, 3 genotype F, 2 genotype G, and 3 genotype I. In genotype A, the most common polymorphism occurred at M133. In genotype B, Q129 and M133 occurred 45 and 51 times, respectively, accounting for 94% of Polymorphisms. Polymorphisms at G145 were most frequent in genotype C, while P120 was most common in genotype D. Amongst all genotypes, Polymorphisms at M133 were the most common and accounted for 30.9% of Polymorphisms. Polymorphisms at T116, P120, F134, K141, and P142 occurred in geographically diverse locations, whereas Polymorphisms at Q129, M133, D144, and G145 were concentrated in East Asia. CONCLUSION: While the sample size is large, this approach relied on convenience sampling within each country, and many countries have no data available, thereby highlighting the need for additional routine surveillance of surface antigen mutations associated with vaccine escape. This article is protected by copyright. All rights reserved.

  • the distribution of hepatitis b virus surface antigen Polymorphisms at positions associated with vaccine escape
    Journal of Medical Virology, 2020
    Co-Authors: Mahad Raheel, Wonderful T Choga, Jason T Blackard
    Abstract:

    Hepatitis B virus (HBV) infects over 250 million people worldwide. Vaccination is effective at preventing infection, although several mutations within the "a" determinant region of the HBV surface antigen (HBsAg) are associated with vaccine escape. We evaluated the frequency, genotype, and global distribution of Polymorphisms at sites associated with vaccine escape in 4244 unique full-length HBV genomes. The "a" determinant within the Surface gene was inspected for Polymorphisms at sites identified previously associated with vaccine escape. Nearly, 268 (6.3%) sequences from 36 countries contained a polymorphism at a site associated with vaccine escape including 22 genotype A, 99 genotype B, 93 genotype C, 32 genotype D, 14 genotype E, 3 genotype F, 2 genotype G, and 3 genotype I. In genotype A, the most common polymorphism occurred at M133. In genotype B, Q129 and M133 occurred 45 and 51 times, respectively, accounting for 94% of Polymorphisms. Polymorphisms at G145 were most frequent in genotype C, while P120 was most common in genotype D. Among all genotypes, Polymorphisms at M133 were the most common and accounted for 30.9% of Polymorphisms. Polymorphisms at T116, P120, F134, K141, and P142 occurred in geographically diverse locations, whereas Polymorphisms at Q129, M133, D144, and G145 were concentrated in East Asia. While the sample size is large, this approach relied on convenience sampling within each country, and many countries have no data available, thereby highlighting the need for additional routine surveillance of surface antigen mutations associated with vaccine escape.

Xinru Wang - One of the best experts on this subject based on the ideXlab platform.

  • ercc1 and ercc2 Polymorphisms and risk of idiopathic azoospermia in a chinese population
    Reproductive Biomedicine Online, 2008
    Co-Authors: Guixiang Ji, Yuzhu Peng, Chuncheng Lu, Shoulin Wang, Aihua Gu, Jie Liang, Xinru Wang
    Abstract:

    Abstract The ERCC1 (excision repair cross complementation group 1) and ERCC2 (excision repair cross complementation group 2) genes are important in repairing DNA damage and genomic instability in germ cells, and are essential for normal spermatogenesis. It has been verified that Polymorphisms of these two genes could alter DNA repair capacity in some phenotypic studies. However, little information is available on these Polymorphisms in male infertility. This study was designed to examine whether ERCC1 Polymorphisms 3 UTR (C8092A), Asn118Asn (G19007A) and ERCC2 Polymorphisms Asp312Asn (G→A), Lys751Gln (A→C), which have been reported to contribute to some cancers, are associated with idiopathic azoospermia in the Chinese population. The four Polymorphisms were genotyped using polymerase chain reaction–restriction fragment length polymorphism assay in a hospital-based case–control study, comprising 202 infertile patients with idiopathic azoospermia and 187 fertile controls. It was found that the ERCC1 8092 CA + AA genotypes were significantly associated with an increased risk of idiopathic azoospermia (OR = 1.750, 95% CI = 1.170–2.618), while other Polymorphisms appeared to show no significant differences between cases and controls. Further studies are needed to confirm the roles of these Polymorphisms in idiopathic azoospermia.

  • ercc1 and ercc2 Polymorphisms and risk of idiopathic azoospermia in a chinese population
    Reproductive Biomedicine Online, 2008
    Co-Authors: Guixiang Ji, Yuzhu Peng, Chuncheng Lu, Shoulin Wang, Aihua Gu, Jie Liang, Xinru Wang
    Abstract:

    Abstract The ERCC1 (excision repair cross complementation group 1) and ERCC2 (excision repair cross complementation group 2) genes are important in repairing DNA damage and genomic instability in germ cells, and are essential for normal spermatogenesis. It has been verified that Polymorphisms of these two genes could alter DNA repair capacity in some phenotypic studies. However, little information is available on these Polymorphisms in male infertility. This study was designed to examine whether ERCC1 Polymorphisms 3 UTR (C8092A), Asn118Asn (G19007A) and ERCC2 Polymorphisms Asp312Asn (G→A), Lys751Gln (A→C), which have been reported to contribute to some cancers, are associated with idiopathic azoospermia in the Chinese population. The four Polymorphisms were genotyped using polymerase chain reaction–restriction fragment length polymorphism assay in a hospital-based case–control study, comprising 202 infertile patients with idiopathic azoospermia and 187 fertile controls. It was found that the ERCC1 8092 CA + AA genotypes were significantly associated with an increased risk of idiopathic azoospermia (OR = 1.750, 95% CI = 1.170–2.618), while other Polymorphisms appeared to show no significant differences between cases and controls. Further studies are needed to confirm the roles of these Polymorphisms in idiopathic azoospermia.

Mahad Raheel - One of the best experts on this subject based on the ideXlab platform.

  • the distribution of hepatitis b virus surface antigen Polymorphisms at positions associated with vaccine escape
    Journal of Medical Virology, 2020
    Co-Authors: Mahad Raheel, Wonderful T Choga, Jason T Blackard
    Abstract:

    : Hepatitis B virus (HBV) infects over 250 million people worldwide. Vaccination is effective at preventing infection, although several mutations within the "a" determinant region of the HBV surface antigen (HBsAg) are associated with vaccine escape. We evaluated the frequency, genotype, and global distribution of Polymorphisms at sites associated with vaccine escape in 4244 unique full-length HBV genomes. The "a" determinant within the Surface gene was inspected for Polymorphisms at sites identified previously associated with vaccine escape. Nearly, 268 (6.3%) sequences from 36 countries contained a polymorphism at a site associated with vaccine escape including 22 genotype A, 99 genotype B, 93 genotype C, 32 genotype D, 14 genotype E, 3 genotype F, 2 genotype G, and 3 genotype I. In genotype A, the most common polymorphism occurred at M133. In genotype B, Q129 and M133 occurred 45 and 51 times, respectively, accounting for 94% of Polymorphisms. Polymorphisms at G145 were most frequent in genotype C, while P120 was most common in genotype D. Among all genotypes, Polymorphisms at M133 were the most common and accounted for 30.9% of Polymorphisms. Polymorphisms at T116, P120, F134, K141, and P142 occurred in geographically diverse locations, whereas Polymorphisms at Q129, M133, D144, and G145 were concentrated in East Asia. While the sample size is large, this approach relied on convenience sampling within each country, and many countries have no data available, thereby highlighting the need for additional routine surveillance of surface antigen mutations associated with vaccine escape. METHODS: We evaluated the frequency, genotype, and global distribution of Polymorphisms at sites associated with vaccine escape in 4,244 unique full-length HBV genomes. The 'a' determinant within the Surface gene was inspected for Polymorphisms at sites identified previously associated with vaccine escape. RESULTS: 268 (6.3%) sequences from 36 countries contained a polymorphism at a site associated with vaccine escape including 22 genotype A, 99 genotype B, 93 genotype C, 32 genotype D, 14 genotype E, 3 genotype F, 2 genotype G, and 3 genotype I. In genotype A, the most common polymorphism occurred at M133. In genotype B, Q129 and M133 occurred 45 and 51 times, respectively, accounting for 94% of Polymorphisms. Polymorphisms at G145 were most frequent in genotype C, while P120 was most common in genotype D. Amongst all genotypes, Polymorphisms at M133 were the most common and accounted for 30.9% of Polymorphisms. Polymorphisms at T116, P120, F134, K141, and P142 occurred in geographically diverse locations, whereas Polymorphisms at Q129, M133, D144, and G145 were concentrated in East Asia. CONCLUSION: While the sample size is large, this approach relied on convenience sampling within each country, and many countries have no data available, thereby highlighting the need for additional routine surveillance of surface antigen mutations associated with vaccine escape. This article is protected by copyright. All rights reserved.

  • the distribution of hepatitis b virus surface antigen Polymorphisms at positions associated with vaccine escape
    Journal of Medical Virology, 2020
    Co-Authors: Mahad Raheel, Wonderful T Choga, Jason T Blackard
    Abstract:

    Hepatitis B virus (HBV) infects over 250 million people worldwide. Vaccination is effective at preventing infection, although several mutations within the "a" determinant region of the HBV surface antigen (HBsAg) are associated with vaccine escape. We evaluated the frequency, genotype, and global distribution of Polymorphisms at sites associated with vaccine escape in 4244 unique full-length HBV genomes. The "a" determinant within the Surface gene was inspected for Polymorphisms at sites identified previously associated with vaccine escape. Nearly, 268 (6.3%) sequences from 36 countries contained a polymorphism at a site associated with vaccine escape including 22 genotype A, 99 genotype B, 93 genotype C, 32 genotype D, 14 genotype E, 3 genotype F, 2 genotype G, and 3 genotype I. In genotype A, the most common polymorphism occurred at M133. In genotype B, Q129 and M133 occurred 45 and 51 times, respectively, accounting for 94% of Polymorphisms. Polymorphisms at G145 were most frequent in genotype C, while P120 was most common in genotype D. Among all genotypes, Polymorphisms at M133 were the most common and accounted for 30.9% of Polymorphisms. Polymorphisms at T116, P120, F134, K141, and P142 occurred in geographically diverse locations, whereas Polymorphisms at Q129, M133, D144, and G145 were concentrated in East Asia. While the sample size is large, this approach relied on convenience sampling within each country, and many countries have no data available, thereby highlighting the need for additional routine surveillance of surface antigen mutations associated with vaccine escape.

Anna F Dominiczak - One of the best experts on this subject based on the ideXlab platform.

  • common Polymorphisms at the cyp17a1 locus associate with steroid phenotypenovelty and significance support for blood pressure genome wide association study signals at this locus
    Hypertension, 2016
    Co-Authors: Louise A Diver, Scott M Mackenzie, R Fraser, Frances Mcmanus, Marie E Freel, Samantha Alvarezmadrazo, John D Mcclure, Elaine C Friel, Neil A Hanley, Anna F Dominiczak
    Abstract:

    Genome-wide association studies implicate the CYP17A1 gene in human blood pressure regulation although the causative Polymorphisms are as yet unknown. We sought to identify common Polymorphisms likely to explain this association. We sequenced the CYP17A1 locus in 60 normotensive individuals and observed 24 previously identified single-nucleotide Polymorphisms with minor allele frequency >0.05. From these, we selected, for further studies, 7 Polymorphisms located ≤2 kb upstream of the CYP17A1 transcription start site. In vitro reporter gene assays identified 3 of these (rs138009835, rs2150927, and rs2486758) as having significant functional effects. We then analyzed the association between the 7 Polymorphisms and the urinary steroid metabolites in a hypertensive cohort (n=232). Significant associations included that of rs138009835 with aldosterone metabolite excretion; rs2150927 associated with the ratio of tetrahydrodeoxycorticosterone to tetrahydrodeoxycortisol, which we used as an index of 17α-hydroxylation. Linkage analysis showed rs138009835 to be the only 1 of the 7 Polymorphisms in strong linkage disequilibrium with the blood pressure–associated Polymorphisms identified in the previous studies. In conclusion, we have identified, characterized, and investigated common Polymorphisms at the CYP17A1 locus that have functional effects on gene transcription in vitro and associate with corticosteroid phenotype in vivo. Of these, rs138009835—which we associate with changes in aldosterone level—is in strong linkage disequilibrium with Polymorphisms linked by genome-wide association studies to blood pressure regulation. This finding clearly has implications for the development of high blood pressure in a large proportion of the population and justifies further investigation of rs138009835 and its effects.

  • common Polymorphisms at the cyp17a1 locus associate with steroid phenotypenovelty and significance
    Hypertension, 2016
    Co-Authors: Louise A Diver, Scott M Mackenzie, R Fraser, Frances Mcmanus, Marie E Freel, Samantha Alvarezmadrazo, John D Mcclure, Elaine C Friel, Neil A Hanley, Anna F Dominiczak
    Abstract:

    Genome-wide association studies implicate the CYP17A1 gene in human blood pressure regulation although the causative Polymorphisms are as yet unknown. We sought to identify common Polymorphisms likely to explain this association. We sequenced the CYP17A1 locus in 60 normotensive individuals and observed 24 previously identified single-nucleotide Polymorphisms with minor allele frequency >0.05. From these, we selected, for further studies, 7 Polymorphisms located ≤2 kb upstream of the CYP17A1 transcription start site. In vitro reporter gene assays identified 3 of these (rs138009835, rs2150927, and rs2486758) as having significant functional effects. We then analyzed the association between the 7 Polymorphisms and the urinary steroid metabolites in a hypertensive cohort (n=232). Significant associations included that of rs138009835 with aldosterone metabolite excretion; rs2150927 associated with the ratio of tetrahydrodeoxycorticosterone to tetrahydrodeoxycortisol, which we used as an index of 17α-hydroxylation. Linkage analysis showed rs138009835 to be the only 1 of the 7 Polymorphisms in strong linkage disequilibrium with the blood pressure–associated Polymorphisms identified in the previous studies. In conclusion, we have identified, characterized, and investigated common Polymorphisms at the CYP17A1 locus that have functional effects on gene transcription in vitro and associate with corticosteroid phenotype in vivo. Of these, rs138009835—which we associate with changes in aldosterone level—is in strong linkage disequilibrium with Polymorphisms linked by genome-wide association studies to blood pressure regulation. This finding clearly has implications for the development of high blood pressure in a large proportion of the population and justifies further investigation of rs138009835 and its effects. # Novelty and Significance {#article-title-30}