المؤلفون: Adeyemo, Adebowale A., Zaghloul, Norann A., Chen, Guanjie, Doumatey, Ayo P., Leitch, Carmen C., Hostelley, Timothy L., Nesmith, Jessica E., Zhou, Jie, Bentley, Amy R., Shriner, Daniel, Fasanmade, Olufemi, Okafor, Godfrey, Eghan, Benjamin, Agyenim-Boateng, Kofi, Chandrasekharappa, Settara, Adeleye, Jokotade, Balogun, William, Owusu, Samuel, Amoah, Albert, Acheampong, Joseph, Johnson, Thomas, Oli, Johnnie, Adebamowo, Clement, Collins, Francis, Dunston, Georgia, Rotimi, Charles N., Chen, Ji, Sun, Meng, Pirie, Fraser, Carstensen, Tommy, Pomilla, Cristina, Young, Elizabeth H., Sandhu, Manjinder, Morris, Andrew P., Barroso, Inês, McCarthy, Mark I., Mahajan, Anubha, Wheeler, Eleanor, Motala, Ayesha A.

مصطلحات موضوعية: Article, /706/134, /631/208/4041/3196, /631/208/205/2138, /692/163/2743/137/773, /38/43, /38/109, /64/116, /14/19, /13/2, /13/31, /13/51

الوصف: Genome analysis of diverse human populations has contributed to the identification of novel genomic loci for diseases of major clinical and public health impact. Here, we report a genome-wide analysis of type 2 diabetes (T2D) in sub-Saharan Africans, an understudied ancestral group. We analyze ~18 million autosomal SNPs in 5,231 individuals from Nigeria, Ghana and Kenya. We identify a previously-unreported genome-wide significant locus: ZRANB3 (Zinc Finger RANBP2-Type Containing 3, lead SNP p = 2.831 × 10−9). Knockdown or genomic knockout of the zebrafish ortholog results in reduction in pancreatic β-cell number which we demonstrate to be due to increased apoptosis in islets. siRNA transfection of murine Zranb3 in MIN6 β-cells results in impaired insulin secretion in response to high glucose, implicating Zranb3 in β-cell functional response to high glucose conditions. We also show transferability in our study of 32 established T2D loci. Our findings advance understanding of the genetics of T2D in non-European ancestry populations.

وصف الملف: application/pdf; text/xml

العلاقة: https://www.repository.cam.ac.uk/handle/1810/308130Test

الإتاحة: https://doi.org/10.17863/CAM.55224Test
https://www.repository.cam.ac.uk/handle/1810/308130Test

المؤلفون: Mensah, Adwoa Bemah Boamah, Nunoo, Humaima, Boamah Mensah, Kofi, Okyere, Joshua, Dzomeku, Veronica Millicent, Apiribu, Felix, Agyenim Boateng, Kofi, Asoogo, Comfort, Opare-Lokko, Edwina, Clegg-Lamptey, Joe-Nat

المصدر: Journal of Child Health Care ; ISSN 1367-4935 1741-2889

مصطلحات موضوعية: Pediatrics, Pediatrics, Perinatology and Child Health

الوصف: Parental involvement in childhood cancer care is of utmost importance, but the understanding of parental recognition, appraisal, and reactions to childhood cancer in settings such as Ghana is limited. We conducted an empirical phenomenological study to explore these aspects among Ghanaian parents. Twenty parents were purposively sampled to participate in semi-structured interviews between June and September 2022. All interviews were transcribed and analysed using an inductive thematic approach. We found that parents recognised symptoms through personal observation and their child's self-report, often perceiving them as non-severe. Emotional reactions upon receiving their child's cancer diagnosis included psychological distress, fear, doubts, and confusion. Enduring emotions experienced by parents were fears of disease recurrence and impending death of their child. Parents assumed the role of nurses at home, monitoring therapy effects, managing pain and symptoms, and dressing wounds. In conclusion, parents in Ghana play a crucial role in the recognition, diagnosis, and treatment pathways of childhood cancer. To enhance their ability to recognise symptoms and take timely actions, it is recommended to implement media programs and health education initiatives targeting parents.

الإتاحة: https://doi.org/10.1177/13674935231225715Test

المؤلفون: Adeyemo, Adebowale A, Zaghloul, Norann A, Chen, Guanjie, Doumatey, Ayo P, Leitch, Carmen C, Hostelley, Timothy L, Nesmith, Jessica E, Zhou, Jie, Bentley, Amy R, Shriner, Daniel, Fasanmade, Olufemi, Okafor, Godfrey, Eghan, Benjamin, Agyenim-Boateng, Kofi, Chandrasekharappa, Settara, Adeleye, Jokotade, Balogun, William, Owusu, Samuel, Amoah, Albert, Acheampong, Joseph, Johnson, Thomas, Oli, Johnnie, Adebamowo, Clement, South Africa Zulu Type 2 Diabetes Case-Control Study, Collins, Francis, Dunston, Georgia, Rotimi, Charles N

مصطلحات موضوعية: Africa, Northern, Animals, Apoptosis, Base Sequence, Blood Glucose, CRISPR-Cas Systems, DNA Helicases, Diabetes Mellitus, Type 2, Disease Models, Animal, Female, Gene Editing, Gene Knockout Techniques, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Ghana, Glucose, Homozygote, Humans, Insulin, Insulin-Secreting Cells, Kenya, Male, Mice, Middle Aged, Mutation, Nigeria

الوصف: Genome analysis of diverse human populations has contributed to the identification of novel genomic loci for diseases of major clinical and public health impact. Here, we report a genome-wide analysis of type 2 diabetes (T2D) in sub-Saharan Africans, an understudied ancestral group. We analyze ~18 million autosomal SNPs in 5,231 individuals from Nigeria, Ghana and Kenya. We identify a previously-unreported genome-wide significant locus: ZRANB3 (Zinc Finger RANBP2-Type Containing 3, lead SNP p = 2.831 × 10-9). Knockdown or genomic knockout of the zebrafish ortholog results in reduction in pancreatic β-cell number which we demonstrate to be due to increased apoptosis in islets. siRNA transfection of murine Zranb3 in MIN6 β-cells results in impaired insulin secretion in response to high glucose, implicating Zranb3 in β-cell functional response to high glucose conditions. We also show transferability in our study of 32 established T2D loci. Our findings advance understanding of the genetics of T2D in non-European ancestry populations.

وصف الملف: Electronic; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/295967Test

الإتاحة: https://doi.org/10.17863/CAM.43015Test
https://www.repository.cam.ac.uk/handle/1810/295967Test

المؤلفون: Adeyemo, Adebowale A., Zaghloul, Norann A., Chen, Guanjie, Doumatey, Ayo P., Leitch, Carmen C., Hostelley, Timothy L., Nesmith, Jessica E., Zhou, Jie, Bentley, Amy R., Shriner, Daniel, Fasanmade, Olufemi, Okafor, Godfrey, Eghan, Benjamin, Agyenim-Boateng, Kofi, Chandrasekharappa, Settara, Adeleye, Jokotade, Balogun, William, Owusu, Samuel, Amoah, Albert, Acheampong, Joseph, Johnson, Thomas, Oli, Johnnie, Adebamowo, Clement, Chen, Ji, Sun, Meng, Pirie, Fraser, Carstensen, Tommy, Pomilla, Cristina, Young, Elizabeth H., Sandhu, Manjinder, Morris, Andrew P., Barroso, Inês, McCarthy, Mark I., Mahajan, Anubha, Wheeler, Eleanor, Motala, Ayesha A., Collins, Francis, Dunston, Georgia, Rotimi, Charles N.

المساهمون: U.S. Department of Health & Human Services | National Institutes of Health

المصدر: Nature Communications ; volume 10, issue 1 ; ISSN 2041-1723

مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary

الوصف: Genome analysis of diverse human populations has contributed to the identification of novel genomic loci for diseases of major clinical and public health impact. Here, we report a genome-wide analysis of type 2 diabetes (T2D) in sub-Saharan Africans, an understudied ancestral group. We analyze ~18 million autosomal SNPs in 5,231 individuals from Nigeria, Ghana and Kenya. We identify a previously-unreported genome-wide significant locus: ZRANB3 (Zinc Finger RANBP2-Type Containing 3, lead SNP p = 2.831 × 10 −9 ). Knockdown or genomic knockout of the zebrafish ortholog results in reduction in pancreatic β-cell number which we demonstrate to be due to increased apoptosis in islets. siRNA transfection of murine Zranb3 in MIN6 β-cells results in impaired insulin secretion in response to high glucose, implicating Zranb3 in β-cell functional response to high glucose conditions. We also show transferability in our study of 32 established T2D loci. Our findings advance understanding of the genetics of T2D in non-European ancestry populations.

الإتاحة: https://doi.org/10.1038/s41467-019-10967-7Test
https://www.nature.com/articles/s41467-019-10967-7.pdfTest
https://www.nature.com/articles/s41467-019-10967-7Test

المؤلفون: Ekoru, Kenneth, Doumatey, Ayo, Bentley, Amy R., Chen, Guanjie, Zhou, Jie, Shriner, Daniel, Fasanmade, Olufemi, Okafor, Godfrey, Eghan, Benjamin, Agyenim-Boateng, Kofi, Adeleye, Jokotade, Balogun, Williams, Amoah, Albert, Acheampong, Joseph, Johnson, Thomas, Oli, Johnnie, Adebamowo, Clement, Collins, Francis, Dunston, Georgia, Adeyemo, Adebowale, Rotimi, Charles

المساهمون: National Human Genome Research Institute, National Institute of Diabetes and Digestive and Kidney Diseases, NIH

المصدر: EClinicalMedicine ; volume 16, page 30-41 ; ISSN 2589-5370

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1016/j.eclinm.2019.09.001Test
https://api.elsevier.com/content/article/PII:S2589537019301622?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2589537019301622?httpAccept=text/plainTest

المؤلفون: Adebamowo, Sally N., Adeyemo, Adebowale A., Tekola-Ayele, Fasil, Doumatey, Ayo P., Bentley, Amy R., Chen, Guanjie, Zhou, Jie, Shriner, Daniel, Fasanmade, Olufemi Adetola, Okafor, Godfrey, Eghan, Benjamin, Agyenim-Boateng, Kofi, Adeleye, Jokotade, Balogun, Williams, Amoah, Albert G., Owusu, Samuel, Acheampong, Joseph, Johnson, Thomas, Oli, Johnnie, Adebamowo, Clement A., Rotimi, Charles N.

المساهمون: National Institutes of Health

المصدر: Frontiers in Endocrinology ; volume 7 ; ISSN 1664-2392

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.3389/fendo.2016.00050Test

المؤلفون: Adeyemo, Adebowale A., Tekola-Ayele, Fasil, Doumatey, Ayo P., Bentley, Amy R., Chen, Guanjie, Huang, Hanxia, Zhou, Jie, Shriner, Daniel, Fasanmade, Olufemi, Okafor, Godfrey, Eghan, Benjamin, Agyenim-Boateng, Kofi, Adeleye, Jokotade, Balogun, Williams, Elkahloun, Abdel, Chandrasekharappa, Settara, Owusu, Samuel, Amoah, Albert, Acheampong, Joseph, Johnson, Thomas, Oli, Johnnie, Adebamowo, Clement, Collins, Francis, Dunston, Georgia, Rotimi, Charles N.

المساهمون: National Institutes of Health, National Human Genome Research Institute, National Institute of Diabetes and Digestive and Kidney Diseases, Center for Information Technology, National Center on Minority Health and Health Disparities, National Center for Research Resources

المصدر: Frontiers in Genetics ; volume 6 ; ISSN 1664-8021

الإتاحة: https://doi.org/10.3389/fgene.2015.00335Test

المؤلفون: Rotimi, Charles, Daniel, Harold, Zhou, Jie, Obisesan, Augustine, Chen, Guanjie, Chen, Yuanxiu, Amoah, Albert, Opoku, Victoria, Acheampong, Joseph, Agyenim-Boateng, Kofi, Eghan, Benjamin Ackon, Oli, Johnnie, Okafor, Godfrey, Ofoegbu, Ester, Osotimehin, Babatunde, Abbiyesuku, Fayeofori, Johnson, Thomas, Fasanmade, Olufemi, Doumatey, Ayo, Aje, Temilolu, Collins, Francis, Dunston, Georgia

المصدر: Ethnicity & Disease, 2003 Apr 01. 13, 110-117.

الوصول الحر: https://www.jstor.org/stable/48666392Test

المؤلفون: Doumatey, Ayo P., Chen, Guanjie, Ayele, Fasil Tekola, Zhou, Jie, Erdos, Michael, Shriner, Daniel, Huang, Hanxia, Adeleye, Jokotade, Balogun, Williams, Fasanmade, Olufemi, Johnson, Thomas, Oli, Johnnie, Okafor, Godfrey, Amoah, Albert, Eghan, Benjamin A, Agyenim-Boateng, Kofi, Acheampong, Joseph, Adebamowo, Clement, Gerry, Norman P., Christman, Michael F., Adeyemo, Adebowale, Rotimi, Charles N.

مصطلحات موضوعية: Article

الوصف: C-reactive protein (CRP) is an acute phase reactant protein produced primarily by the liver. Circulating CRP levels are influenced by genetic and non-genetic factors, including infection and obesity. Genome-wide association studies (GWAS) provide an unbiased approach towards identifying loci influencing CRP levels. None of the six GWAS for CRP levels has been conducted in an African ancestry population. The present study aims to: (i) identify genetic variants that influence serum CRP in African Americans (AA) using a genome-wide association approach and replicate these findings in West Africans (WA), (ii) assess transferability of major signals for CRP reported in European ancestry populations (EA) to AA and (iii) use the weak linkage disequilibrium (LD) structure characteristic of African ancestry populations to fine-map the previously reported CRP locus. The discovery cohort comprised 837 unrelated AA, with the replication of significant single-nucleotide polymorphisms (SNPs) assessed in 486 WA. The association analysis was conducted with 2 366 856 genotyped and imputed SNPs under an additive genetic model with adjustment for appropriate covariates. Genome-wide and replication significances were set at P < 5 × 10−8 and P < 0.05, respectively. Ten SNPs in ( CRP pseudogene-1 ) CRPP1 and CRP genes were associated with serum CRP ( P = 2.4 × 10−09 to 4.3 × 10−11). All but one of the top-scoring SNPs associated with CRP in AA were successfully replicated in WA. CRP signals previously identified in EA samples were transferable to AAs, and we were able to fine-map this signal, reducing the region of interest from the 25 kb of LD around the locus in the HapMap CEU sample to only 8 kb in our AA sample.

وصف الملف: text/html

العلاقة: http://hmg.oxfordjournals.org/cgi/content/short/dds133v1Test; http://dx.doi.org/10.1093/hmg/dds133Test

الإتاحة: https://doi.org/10.1093/hmg/dds133Test
http://hmg.oxfordjournals.org/cgi/content/short/dds133v1Test

المؤلفون: Ekoru, Kenneth, Doumatey, Ayo, Bentley, Amy R., Chen, Guanjie, Zhou, Jie, Shriner, Daniel, Fasanmade, Olufemi, Okafor, Godfrey, Eghan, Benjamin, Agyenim-Boateng, Kofi, Adeleye, Jokotade, Balogun, Williams, Amoah, Albert, Acheampong, Joseph, Johnson, Thomas, Oli, Johnnie, Adebamowo, Clement, Collins, Francis, Dunston, Georgia, Adeyemo, Adebowale, Rotimi, Charles

المصدر: SSRN Electronic Journal ; ISSN 1556-5068

الإتاحة: https://doi.org/10.2139/ssrn.3365067Test