@article{Blumenthal2018,
abstract = {BACKGROUND To determine if variations exist in the KSHV host receptor EPHA2′s coding region that affect KSHV infectivity and/or KS prevalence among South African HIV-infected patients. METHODS A retrospective candidate gene association study was performed on 150 patients which were randomly selected from a total of 756 HIV-infected patients and grouped according to their KS status and KSHV serodiagnosis; namely group 1: KS+/KSHV+; group 2: KS−/KSHV+; group 3: KS−/KSHV−. Peripheral blood DNA was used to extract DNA and PCR amplify and sequence the entire EPHA2 coding region, which was compared to the NCBI reference through multiple alignment. RESULTS 100{\%} (95{\%} CI 92.9–100{\%}) of the KS positive patients, and 31.6{\%} (95{\%} CI 28.3–35.1{\%}) of the KS negative patients were found to be KSHV seropositive. Aggregate variation across the entire EPHA2 coding region identified an association with KS (OR = 6.6 (95{\%} CI 2.8, 15.9), p = 2.2 × 10−5). This was primarily driven by variation in the functionally important protein tyrosine kinase domain (Pkinase-Tyr; OR = 4.9 (95{\%} CI 1.9, 12.4), p = 0.001) and the sterile-$\alpha$-motif (SAM; OR = 13.8 (95{\%} CI 1.7, 111.6), p = 0.014). Mutation analysis revealed two novel, non-synonymous heterozygous variants (c.2254 T {\textgreater} C: OR undefined, adj. p = 0.02; and c.2990 G {\textgreater} T: OR undefined, adj. p = 0.04) in Pkinase-Tyr and SAM, respectively, to be statistically associated with KS; and a novel heterozygous transition (c.2727C {\textgreater} T: OR = 6.4 (95{\%} CI 1.4, 28.4), adj. p = 0.03) in Pkinase-Tyr to be statistically associated with KSHV. CONCLUSIONS Variations in the KSHV entry receptor gene EPHA2 affected susceptibility to KSHV infection and KS development in a South African HIV-infected patient cohort.},
author = {Blumenthal, Melissa J and Schutz, Charlotte and Meintjes, Graeme A and Mohamed, Zainab and Mendelson, Marc and Ambler, Jon M and Whitby, Denise and Mackelprang, Romel D and Carse, Sinead and Katz, Arieh A and Sch{\"{a}}fer, Georgia},
doi = {10.1016/J.CANEP.2018.08.005},
journal = {Cancer Epidemiology},
keywords = {OA,fund{\_}not{\_}ack,original},
mendeley-tags = {OA,fund{\_}not{\_}ack,original},
month = {oct},
pages = {133--139},
pmid = {30176543},
publisher = {Elsevier},
title = {{EPHA2 sequence variants are associated with susceptibility to Kaposi's sarcoma-associated herpesvirus infection and Kaposi's sarcoma prevalence in HIV-infected patients}},
url = {https://www.sciencedirect.com/science/article/pii/S1877782118302480?via{\%}3Dihub},
volume = {56},
year = {2018}
}

{"_id":"hCYYx2rPDHRZEZjZh","bibbaseid":"blumenthal-schutz-meintjes-mohamed-mendelson-ambler-whitby-mackelprang-etal-epha2sequencevariantsareassociatedwithsusceptibilitytokaposissarcomaassociatedherpesvirusinfectionandkaposissarcomaprevalenceinhivinfectedpatients-2018","author_short":["Blumenthal, M. J","Schutz, C.","Meintjes, G. A","Mohamed, Z.","Mendelson, M.","Ambler, J. M","Whitby, D.","Mackelprang, R. D","Carse, S.","Katz, A. A","Schäfer, G."],"bibdata":{"bibtype":"article","type":"article","abstract":"BACKGROUND To determine if variations exist in the KSHV host receptor EPHA2′s coding region that affect KSHV infectivity and/or KS prevalence among South African HIV-infected patients. METHODS A retrospective candidate gene association study was performed on 150 patients which were randomly selected from a total of 756 HIV-infected patients and grouped according to their KS status and KSHV serodiagnosis; namely group 1: KS+/KSHV+; group 2: KS−/KSHV+; group 3: KS−/KSHV−. Peripheral blood DNA was used to extract DNA and PCR amplify and sequence the entire EPHA2 coding region, which was compared to the NCBI reference through multiple alignment. RESULTS 100% (95% CI 92.9–100%) of the KS positive patients, and 31.6% (95% CI 28.3–35.1%) of the KS negative patients were found to be KSHV seropositive. Aggregate variation across the entire EPHA2 coding region identified an association with KS (OR = 6.6 (95% CI 2.8, 15.9), p = 2.2 × 10−5). This was primarily driven by variation in the functionally important protein tyrosine kinase domain (Pkinase-Tyr; OR = 4.9 (95% CI 1.9, 12.4), p = 0.001) and the sterile-$α$-motif (SAM; OR = 13.8 (95% CI 1.7, 111.6), p = 0.014). Mutation analysis revealed two novel, non-synonymous heterozygous variants (c.2254 T \\textgreater C: OR undefined, adj. p = 0.02; and c.2990 G \\textgreater T: OR undefined, adj. p = 0.04) in Pkinase-Tyr and SAM, respectively, to be statistically associated with KS; and a novel heterozygous transition (c.2727C \\textgreater T: OR = 6.4 (95% CI 1.4, 28.4), adj. p = 0.03) in Pkinase-Tyr to be statistically associated with KSHV. CONCLUSIONS Variations in the KSHV entry receptor gene EPHA2 affected susceptibility to KSHV infection and KS development in a South African HIV-infected patient cohort.","author":[{"propositions":[],"lastnames":["Blumenthal"],"firstnames":["Melissa","J"],"suffixes":[]},{"propositions":[],"lastnames":["Schutz"],"firstnames":["Charlotte"],"suffixes":[]},{"propositions":[],"lastnames":["Meintjes"],"firstnames":["Graeme","A"],"suffixes":[]},{"propositions":[],"lastnames":["Mohamed"],"firstnames":["Zainab"],"suffixes":[]},{"propositions":[],"lastnames":["Mendelson"],"firstnames":["Marc"],"suffixes":[]},{"propositions":[],"lastnames":["Ambler"],"firstnames":["Jon","M"],"suffixes":[]},{"propositions":[],"lastnames":["Whitby"],"firstnames":["Denise"],"suffixes":[]},{"propositions":[],"lastnames":["Mackelprang"],"firstnames":["Romel","D"],"suffixes":[]},{"propositions":[],"lastnames":["Carse"],"firstnames":["Sinead"],"suffixes":[]},{"propositions":[],"lastnames":["Katz"],"firstnames":["Arieh","A"],"suffixes":[]},{"propositions":[],"lastnames":["Schäfer"],"firstnames":["Georgia"],"suffixes":[]}],"doi":"10.1016/J.CANEP.2018.08.005","journal":"Cancer Epidemiology","keywords":"OA,fund_not_ack,original","mendeley-tags":"OA,fund_not_ack,original","month":"oct","pages":"133–139","pmid":"30176543","publisher":"Elsevier","title":"EPHA2 sequence variants are associated with susceptibility to Kaposi's sarcoma-associated herpesvirus infection and Kaposi's sarcoma prevalence in HIV-infected patients","url":"https://www.sciencedirect.com/science/article/pii/S1877782118302480?via\\%3Dihub","volume":"56","year":"2018","bibtex":"@article{Blumenthal2018,\r\nabstract = {BACKGROUND To determine if variations exist in the KSHV host receptor EPHA2′s coding region that affect KSHV infectivity and/or KS prevalence among South African HIV-infected patients. METHODS A retrospective candidate gene association study was performed on 150 patients which were randomly selected from a total of 756 HIV-infected patients and grouped according to their KS status and KSHV serodiagnosis; namely group 1: KS+/KSHV+; group 2: KS−/KSHV+; group 3: KS−/KSHV−. Peripheral blood DNA was used to extract DNA and PCR amplify and sequence the entire EPHA2 coding region, which was compared to the NCBI reference through multiple alignment. RESULTS 100{\\%} (95{\\%} CI 92.9–100{\\%}) of the KS positive patients, and 31.6{\\%} (95{\\%} CI 28.3–35.1{\\%}) of the KS negative patients were found to be KSHV seropositive. Aggregate variation across the entire EPHA2 coding region identified an association with KS (OR = 6.6 (95{\\%} CI 2.8, 15.9), p = 2.2 × 10−5). This was primarily driven by variation in the functionally important protein tyrosine kinase domain (Pkinase-Tyr; OR = 4.9 (95{\\%} CI 1.9, 12.4), p = 0.001) and the sterile-$\\alpha$-motif (SAM; OR = 13.8 (95{\\%} CI 1.7, 111.6), p = 0.014). Mutation analysis revealed two novel, non-synonymous heterozygous variants (c.2254 T {\\textgreater} C: OR undefined, adj. p = 0.02; and c.2990 G {\\textgreater} T: OR undefined, adj. p = 0.04) in Pkinase-Tyr and SAM, respectively, to be statistically associated with KS; and a novel heterozygous transition (c.2727C {\\textgreater} T: OR = 6.4 (95{\\%} CI 1.4, 28.4), adj. p = 0.03) in Pkinase-Tyr to be statistically associated with KSHV. CONCLUSIONS Variations in the KSHV entry receptor gene EPHA2 affected susceptibility to KSHV infection and KS development in a South African HIV-infected patient cohort.},\r\nauthor = {Blumenthal, Melissa J and Schutz, Charlotte and Meintjes, Graeme A and Mohamed, Zainab and Mendelson, Marc and Ambler, Jon M and Whitby, Denise and Mackelprang, Romel D and Carse, Sinead and Katz, Arieh A and Sch{\\\"{a}}fer, Georgia},\r\ndoi = {10.1016/J.CANEP.2018.08.005},\r\njournal = {Cancer Epidemiology},\r\nkeywords = {OA,fund{\\_}not{\\_}ack,original},\r\nmendeley-tags = {OA,fund{\\_}not{\\_}ack,original},\r\nmonth = {oct},\r\npages = {133--139},\r\npmid = {30176543},\r\npublisher = {Elsevier},\r\ntitle = {{EPHA2 sequence variants are associated with susceptibility to Kaposi's sarcoma-associated herpesvirus infection and Kaposi's sarcoma prevalence in HIV-infected patients}},\r\nurl = {https://www.sciencedirect.com/science/article/pii/S1877782118302480?via{\\%}3Dihub},\r\nvolume = {56},\r\nyear = {2018}\r\n}\r\n","author_short":["Blumenthal, M. J","Schutz, C.","Meintjes, G. A","Mohamed, Z.","Mendelson, M.","Ambler, J. M","Whitby, D.","Mackelprang, R. D","Carse, S.","Katz, A. A","Schäfer, G."],"key":"Blumenthal2018","id":"Blumenthal2018","bibbaseid":"blumenthal-schutz-meintjes-mohamed-mendelson-ambler-whitby-mackelprang-etal-epha2sequencevariantsareassociatedwithsusceptibilitytokaposissarcomaassociatedherpesvirusinfectionandkaposissarcomaprevalenceinhivinfectedpatients-2018","role":"author","urls":{"Paper":"https://www.sciencedirect.com/science/article/pii/S1877782118302480?via\\%3Dihub"},"keyword":["OA","fund_not_ack","original"],"metadata":{"authorlinks":{}}},"bibtype":"article","biburl":"https://drive.google.com/uc?export=download&id=1-JLqZ7RwZ3VC2d6ErLGHAtOeMRS_7GCz","dataSources":["Krmt6gt9ktB2s6ARh"],"keywords":["oa","fund_not_ack","original"],"search_terms":["epha2","sequence","variants","associated","susceptibility","kaposi","sarcoma","associated","herpesvirus","infection","kaposi","sarcoma","prevalence","hiv","infected","patients","blumenthal","schutz","meintjes","mohamed","mendelson","ambler","whitby","mackelprang","carse","katz","schäfer"],"title":"EPHA2 sequence variants are associated with susceptibility to Kaposi's sarcoma-associated herpesvirus infection and Kaposi's sarcoma prevalence in HIV-infected patients","year":2018}