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Abstract
Discussion Forum (0)
Prevalence estimation of transthyretin familial amyloid polyneuropathy in China based on genetic databases
Poster No: 1353
Presenter: Victor Zheng
Institution:
Introduction: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare hereditary disease caused by single amino-acid changes in the transthyretin gene. Its global prevalence is traditionally estimated as 5,000 to 10,000. However, it might be underestimated and the exact prevalence of ATTR in China mainland remains unknown
Methods: GnomAD database and two Chinese population-based genomic sequencing databases, a public population-based genomic sequencing database named ChinaMAP and a commercial genomic sequencing database named Amcare lab gene database, were integrated to estimate the possible prevalence of TTR-FAP in world population and mainland Chinese population. The variants were divided into the five categories: affects function, probably affects function, uncertain significance, probably does not affect the function and does not affect function variants. Affects function and probably affects function were defined as pathological mutation variants. Prevalence estimation was calculated as pathological variant alleles/Total alleles in the database
Results: Five variants, including 441 alleles, were defined as pathological variants in gnomAD. The prevalence of TTR-FAP in the world population is thus 3.7/10,000. Two alleles were defined as pathological variants in the ChinaMAP database and 29 alleles in the Amcare lab exome database. Thus, the estimated prevalence interval of TTR-FAP in mainland China is 1.89/10,000-2.62/1,000 based on the exome database
Conclusions: The lower limit of prevalence interval in China mainland is 20-fold higher than that in America and Caucasians concluded by traditional epidemiological methods. In addition, together with the estimated prevalence of 3.7/10,000 in the world population, it shows that the previous prevalence was seriously underestimated concluded from traditional methods. Therefore, raising awareness of the disease is essential for recognizing TTR-FAP in its early stage
References: No
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Grant Support:
Keywords: Transthyretin familial amyloid polyneuropathy, prevalence, genomic sequencing databases
Poster No: 1353
Presenter: Victor Zheng
Institution:
Introduction: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare hereditary disease caused by single amino-acid changes in the transthyretin gene. Its global prevalence is traditionally estimated as 5,000 to 10,000. However, it might be underestimated and the exact prevalence of ATTR in China mainland remains unknown
Methods: GnomAD database and two Chinese population-based genomic sequencing databases, a public population-based genomic sequencing database named ChinaMAP and a commercial genomic sequencing database named Amcare lab gene database, were integrated to estimate the possible prevalence of TTR-FAP in world population and mainland Chinese population. The variants were divided into the five categories: affects function, probably affects function, uncertain significance, probably does not affect the function and does not affect function variants. Affects function and probably affects function were defined as pathological mutation variants. Prevalence estimation was calculated as pathological variant alleles/Total alleles in the database
Results: Five variants, including 441 alleles, were defined as pathological variants in gnomAD. The prevalence of TTR-FAP in the world population is thus 3.7/10,000. Two alleles were defined as pathological variants in the ChinaMAP database and 29 alleles in the Amcare lab exome database. Thus, the estimated prevalence interval of TTR-FAP in mainland China is 1.89/10,000-2.62/1,000 based on the exome database
Conclusions: The lower limit of prevalence interval in China mainland is 20-fold higher than that in America and Caucasians concluded by traditional epidemiological methods. In addition, together with the estimated prevalence of 3.7/10,000 in the world population, it shows that the previous prevalence was seriously underestimated concluded from traditional methods. Therefore, raising awareness of the disease is essential for recognizing TTR-FAP in its early stage
References: No
References 1:
References 2:
References 3:
References 4:
Grant Support:
Keywords: Transthyretin familial amyloid polyneuropathy, prevalence, genomic sequencing databases
Prevalence estimation of transthyretin familial amyloid polyneuropathy in China based on genetic databases
Poster No: 1353
Presenter: Victor Zheng
Institution:
Introduction: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare hereditary disease caused by single amino-acid changes in the transthyretin gene. Its global prevalence is traditionally estimated as 5,000 to 10,000. However, it might be underestimated and the exact prevalence of ATTR in China mainland remains unknown
Methods: GnomAD database and two Chinese population-based genomic sequencing databases, a public population-based genomic sequencing database named ChinaMAP and a commercial genomic sequencing database named Amcare lab gene database, were integrated to estimate the possible prevalence of TTR-FAP in world population and mainland Chinese population. The variants were divided into the five categories: affects function, probably affects function, uncertain significance, probably does not affect the function and does not affect function variants. Affects function and probably affects function were defined as pathological mutation variants. Prevalence estimation was calculated as pathological variant alleles/Total alleles in the database
Results: Five variants, including 441 alleles, were defined as pathological variants in gnomAD. The prevalence of TTR-FAP in the world population is thus 3.7/10,000. Two alleles were defined as pathological variants in the ChinaMAP database and 29 alleles in the Amcare lab exome database. Thus, the estimated prevalence interval of TTR-FAP in mainland China is 1.89/10,000-2.62/1,000 based on the exome database
Conclusions: The lower limit of prevalence interval in China mainland is 20-fold higher than that in America and Caucasians concluded by traditional epidemiological methods. In addition, together with the estimated prevalence of 3.7/10,000 in the world population, it shows that the previous prevalence was seriously underestimated concluded from traditional methods. Therefore, raising awareness of the disease is essential for recognizing TTR-FAP in its early stage
References: No
References 1:
References 2:
References 3:
References 4:
Grant Support:
Keywords: Transthyretin familial amyloid polyneuropathy, prevalence, genomic sequencing databases
Poster No: 1353
Presenter: Victor Zheng
Institution:
Introduction: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare hereditary disease caused by single amino-acid changes in the transthyretin gene. Its global prevalence is traditionally estimated as 5,000 to 10,000. However, it might be underestimated and the exact prevalence of ATTR in China mainland remains unknown
Methods: GnomAD database and two Chinese population-based genomic sequencing databases, a public population-based genomic sequencing database named ChinaMAP and a commercial genomic sequencing database named Amcare lab gene database, were integrated to estimate the possible prevalence of TTR-FAP in world population and mainland Chinese population. The variants were divided into the five categories: affects function, probably affects function, uncertain significance, probably does not affect the function and does not affect function variants. Affects function and probably affects function were defined as pathological mutation variants. Prevalence estimation was calculated as pathological variant alleles/Total alleles in the database
Results: Five variants, including 441 alleles, were defined as pathological variants in gnomAD. The prevalence of TTR-FAP in the world population is thus 3.7/10,000. Two alleles were defined as pathological variants in the ChinaMAP database and 29 alleles in the Amcare lab exome database. Thus, the estimated prevalence interval of TTR-FAP in mainland China is 1.89/10,000-2.62/1,000 based on the exome database
Conclusions: The lower limit of prevalence interval in China mainland is 20-fold higher than that in America and Caucasians concluded by traditional epidemiological methods. In addition, together with the estimated prevalence of 3.7/10,000 in the world population, it shows that the previous prevalence was seriously underestimated concluded from traditional methods. Therefore, raising awareness of the disease is essential for recognizing TTR-FAP in its early stage
References: No
References 1:
References 2:
References 3:
References 4:
Grant Support:
Keywords: Transthyretin familial amyloid polyneuropathy, prevalence, genomic sequencing databases
Prevalence estimation of transthyretin familial amyloid polyneuropathy in China based on genetic databases
Dr. Yongsheng Zheng
Abstract
Discussion Forum (0)
Prevalence estimation of transthyretin familial amyloid polyneuropathy in China based on genetic databases
Poster No: 1353
Presenter: Victor Zheng
Institution:
Introduction: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare hereditary disease caused by single amino-acid changes in the transthyretin gene. Its global prevalence is traditionally estimated as 5,000 to 10,000. However, it might be underestimated and the exact prevalence of ATTR in China mainland remains unknown
Methods: GnomAD database and two Chinese population-based genomic sequencing databases, a public population-based genomic sequencing database named ChinaMAP and a commercial genomic sequencing database named Amcare lab gene database, were integrated to estimate the possible prevalence of TTR-FAP in world population and mainland Chinese population. The variants were divided into the five categories: affects function, probably affects function, uncertain significance, probably does not affect the function and does not affect function variants. Affects function and probably affects function were defined as pathological mutation variants. Prevalence estimation was calculated as pathological variant alleles/Total alleles in the database
Results: Five variants, including 441 alleles, were defined as pathological variants in gnomAD. The prevalence of TTR-FAP in the world population is thus 3.7/10,000. Two alleles were defined as pathological variants in the ChinaMAP database and 29 alleles in the Amcare lab exome database. Thus, the estimated prevalence interval of TTR-FAP in mainland China is 1.89/10,000-2.62/1,000 based on the exome database
Conclusions: The lower limit of prevalence interval in China mainland is 20-fold higher than that in America and Caucasians concluded by traditional epidemiological methods. In addition, together with the estimated prevalence of 3.7/10,000 in the world population, it shows that the previous prevalence was seriously underestimated concluded from traditional methods. Therefore, raising awareness of the disease is essential for recognizing TTR-FAP in its early stage
References: No
References 1:
References 2:
References 3:
References 4:
Grant Support:
Keywords: Transthyretin familial amyloid polyneuropathy, prevalence, genomic sequencing databases
Poster No: 1353
Presenter: Victor Zheng
Institution:
Introduction: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare hereditary disease caused by single amino-acid changes in the transthyretin gene. Its global prevalence is traditionally estimated as 5,000 to 10,000. However, it might be underestimated and the exact prevalence of ATTR in China mainland remains unknown
Methods: GnomAD database and two Chinese population-based genomic sequencing databases, a public population-based genomic sequencing database named ChinaMAP and a commercial genomic sequencing database named Amcare lab gene database, were integrated to estimate the possible prevalence of TTR-FAP in world population and mainland Chinese population. The variants were divided into the five categories: affects function, probably affects function, uncertain significance, probably does not affect the function and does not affect function variants. Affects function and probably affects function were defined as pathological mutation variants. Prevalence estimation was calculated as pathological variant alleles/Total alleles in the database
Results: Five variants, including 441 alleles, were defined as pathological variants in gnomAD. The prevalence of TTR-FAP in the world population is thus 3.7/10,000. Two alleles were defined as pathological variants in the ChinaMAP database and 29 alleles in the Amcare lab exome database. Thus, the estimated prevalence interval of TTR-FAP in mainland China is 1.89/10,000-2.62/1,000 based on the exome database
Conclusions: The lower limit of prevalence interval in China mainland is 20-fold higher than that in America and Caucasians concluded by traditional epidemiological methods. In addition, together with the estimated prevalence of 3.7/10,000 in the world population, it shows that the previous prevalence was seriously underestimated concluded from traditional methods. Therefore, raising awareness of the disease is essential for recognizing TTR-FAP in its early stage
References: No
References 1:
References 2:
References 3:
References 4:
Grant Support:
Keywords: Transthyretin familial amyloid polyneuropathy, prevalence, genomic sequencing databases
Prevalence estimation of transthyretin familial amyloid polyneuropathy in China based on genetic databases
Poster No: 1353
Presenter: Victor Zheng
Institution:
Introduction: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare hereditary disease caused by single amino-acid changes in the transthyretin gene. Its global prevalence is traditionally estimated as 5,000 to 10,000. However, it might be underestimated and the exact prevalence of ATTR in China mainland remains unknown
Methods: GnomAD database and two Chinese population-based genomic sequencing databases, a public population-based genomic sequencing database named ChinaMAP and a commercial genomic sequencing database named Amcare lab gene database, were integrated to estimate the possible prevalence of TTR-FAP in world population and mainland Chinese population. The variants were divided into the five categories: affects function, probably affects function, uncertain significance, probably does not affect the function and does not affect function variants. Affects function and probably affects function were defined as pathological mutation variants. Prevalence estimation was calculated as pathological variant alleles/Total alleles in the database
Results: Five variants, including 441 alleles, were defined as pathological variants in gnomAD. The prevalence of TTR-FAP in the world population is thus 3.7/10,000. Two alleles were defined as pathological variants in the ChinaMAP database and 29 alleles in the Amcare lab exome database. Thus, the estimated prevalence interval of TTR-FAP in mainland China is 1.89/10,000-2.62/1,000 based on the exome database
Conclusions: The lower limit of prevalence interval in China mainland is 20-fold higher than that in America and Caucasians concluded by traditional epidemiological methods. In addition, together with the estimated prevalence of 3.7/10,000 in the world population, it shows that the previous prevalence was seriously underestimated concluded from traditional methods. Therefore, raising awareness of the disease is essential for recognizing TTR-FAP in its early stage
References: No
References 1:
References 2:
References 3:
References 4:
Grant Support:
Keywords: Transthyretin familial amyloid polyneuropathy, prevalence, genomic sequencing databases
Poster No: 1353
Presenter: Victor Zheng
Institution:
Introduction: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare hereditary disease caused by single amino-acid changes in the transthyretin gene. Its global prevalence is traditionally estimated as 5,000 to 10,000. However, it might be underestimated and the exact prevalence of ATTR in China mainland remains unknown
Methods: GnomAD database and two Chinese population-based genomic sequencing databases, a public population-based genomic sequencing database named ChinaMAP and a commercial genomic sequencing database named Amcare lab gene database, were integrated to estimate the possible prevalence of TTR-FAP in world population and mainland Chinese population. The variants were divided into the five categories: affects function, probably affects function, uncertain significance, probably does not affect the function and does not affect function variants. Affects function and probably affects function were defined as pathological mutation variants. Prevalence estimation was calculated as pathological variant alleles/Total alleles in the database
Results: Five variants, including 441 alleles, were defined as pathological variants in gnomAD. The prevalence of TTR-FAP in the world population is thus 3.7/10,000. Two alleles were defined as pathological variants in the ChinaMAP database and 29 alleles in the Amcare lab exome database. Thus, the estimated prevalence interval of TTR-FAP in mainland China is 1.89/10,000-2.62/1,000 based on the exome database
Conclusions: The lower limit of prevalence interval in China mainland is 20-fold higher than that in America and Caucasians concluded by traditional epidemiological methods. In addition, together with the estimated prevalence of 3.7/10,000 in the world population, it shows that the previous prevalence was seriously underestimated concluded from traditional methods. Therefore, raising awareness of the disease is essential for recognizing TTR-FAP in its early stage
References: No
References 1:
References 2:
References 3:
References 4:
Grant Support:
Keywords: Transthyretin familial amyloid polyneuropathy, prevalence, genomic sequencing databases
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