HBB c.19G>C ;(p.E7Q)

Variant ID: 11-5248233-C-G

NM_000518.4(HBB):c.19G>C;(p.E7Q)

This variant was identified in 44 publications

View GRCh38 version.




Publications:


Ancestry, diversity, and genetics of health-related traits in African-derived communities (quilombos) from Brazil.

Functional & Integrative Genomics
Joerin-Luque, Iriel A IA; Sukow, Natalie Mary NM; Bucco, Isabela Dall'Oglio ID; Tessaro, Joana Gehlen JG; Lopes, Claudemira Vieira Gusmão CVG; Barbosa, Ana Angélica Leal AAL; Beltrame, Marcia H MH
Publication Date: 2023-03-03

Variant appearance in text: rs33930165
PubMed Link: 36867305
Variant Present in the following documents:
  • Main text
  • 10142_2023_Article_999.pdf
View BVdb publication page



Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2 and HBB associated with haemoglobinopathies.

Elife
Tamana, Stella S; Xenophontos, Maria M; Minaidou, Anna A; Stephanou, Coralea C; Harteveld, Cornelis L CL; Bento, Celeste C; Traeger-Synodinos, Joanne J; Fylaktou, Irene I; Yasin, Norafiza Mohd NM; Abdul Hamid, Faidatul Syazlin FS; Esa, Ezalia E; Halim-Fikri, Hashim H; Zilfalil, Bin Alwi BA; Kakouri, Andrea C AC; , ; Kleanthous, Marina M; Kountouris, Petros P
Publication Date: 2022-12-01

Variant appearance in text: HBB: 19G>C
PubMed Link: 36453528
Variant Present in the following documents:
  • elife-79713-supp2.xlsx, sheet 6
  • elife-79713-supp2.xlsx, sheet 1
  • elife-79713-supp2.xlsx, sheet 14
View BVdb publication page



G6PD and HBB polymorphisms in the Senegalese population: prevalence, correlation with clinical malaria.

Peerj
Thiam, Fatou F; Diop, Gora G; Coulonges, Cedric C; Derbois, Céline C; Mbengue, Babacar B; Thiam, Alassane A; Nguer, Cheikh Momar CM; Zagury, Jean Francois JF; Deleuze, Jean-Francois JF; Dieye, Alioune A
Publication Date: 2022

Variant appearance in text: rs33930165
PubMed Link: 35811813
Variant Present in the following documents:
  • Main text
  • peerj-10-13487.pdf
View BVdb publication page



Etiology of Persistent Microalbuminuria in Nigeria (P_MICRO study): protocol and study design.

Bmc Infectious Diseases
Wester, C William CW; Shepherd, Bryan E BE; Wudil, Usman J UJ; Musa, Baba Maiyaki BM; Ingles, Donna J DJ; Prigmore, Heather L HL; Dankishiya, Faisal S FS; Ahonkhai, Aima A AA; Grema, Bukar A BA; Budge, Philip J PJ; Takakura, Ayumi A; Olabisi, Opeyemi A OA; Winkler, Cheryl A CA; Kopp, Jeffrey B JB; Bonventre, Joseph V JV; Wyatt, Christina M CM; Aliyu, Muktar H MH
Publication Date: 2022-07-04

Variant appearance in text: rs33930165
PubMed Link: 35787257
Variant Present in the following documents:
  • Main text
  • 12879_2022_Article_7531.pdf
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: rs33930165
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT.

Plos One
Zhuo, Xinming X; Wang, Qun Q; Vossaert, Liesbeth L; Salman, Roseen R; Kim, Adriel A; Van den Veyver, Ignatia I; Breman, Amy A; Beaudet, Arthur A
Publication Date: 2021

Variant appearance in text: rs33930165
PubMed Link: 33857205
Variant Present in the following documents:
  • Main text
  • pone.0249695.pdf
View BVdb publication page



IFN-λ4 is associated with increased risk and earlier occurrence of several common infections in African children.

Genes And Immunity
Prokunina-Olsson, Ludmila L; Morrison, Robert D RD; Obajemu, Adeola A; Mahamar, Almahamoudou A; Kim, Sungduk S; Attaher, Oumar O; Florez-Vargas, Oscar O; Sidibe, Youssoufa Y; Onabajo, Olusegun O OO; Hutchinson, Amy A AA; Manning, Michelle M; Kwan, Jennifer J; Brand, Nathan N; Dicko, Alassane A; Fried, Michal M; Albert, Paul S PS; Mbulaiteye, Sam M SM; Duffy, Patrick E PE
Publication Date: 2021-05

Variant appearance in text: rs33930165
PubMed Link: 33850301
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in the immune system and malaria susceptibility in infants: a nested case-control study in Nanoro, Burkina Faso.

Malaria Journal
Natama, Hamatandi Magloire HM; Rovira-Vallbona, Eduard E; Krit, Meryam M; Guetens, Pieter P; Sorgho, Hermann H; Somé, M Athanase MA; Traoré-Coulibaly, Maminata M; Valéa, Innocent I; Mens, Petra F PF; Schallig, Henk D F H HDFH; Berkvens, Dirk D; Kestens, Luc L; Tinto, Halidou H; Rosanas-Urgell, Anna A
Publication Date: 2021-02-16

Variant appearance in text: rs33930165
PubMed Link: 33593344
Variant Present in the following documents:
  • Main text
  • 12936_2021_Article_3628.pdf
View BVdb publication page



High-throughput genotyping assays for identification of glycophorin B deletion variants in population studies.

Experimental Biology And Medicine (Maywood, N.J.)
Amuzu, Dominic Sy DS; Rockett, Kirk A KA; Leffler, Ellen M EM; Ansah, Felix F; Amoako, Nicholas N; Morang'a, Collins M CM; Hubbart, Christina C; Rowlands, Kate K; Jeffreys, Anna E AE; Amenga-Etego, Lucas N LN; Kwiatkowski, Dominic P DP; Awandare, Gordon A GA
Publication Date: 2021-04

Variant appearance in text: rs33930165
PubMed Link: 33325748
Variant Present in the following documents:
  • Main text
  • 10.1177_1535370220968545.pdf
View BVdb publication page



Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics
Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM
Publication Date: 2020-11-30

Variant appearance in text: rs33930165
PubMed Link: 33256598
Variant Present in the following documents:
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 3
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.

Journal For Immunotherapy Of Cancer
Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H
Publication Date: 2020-05

Variant appearance in text: rs33930165
PubMed Link: 32457125
Variant Present in the following documents:
  • jitc-2019-000204supp003.xlsx, sheet 3
View BVdb publication page



Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations.

Plos Genetics
Kowalski, Madeline H MH; Qian, Huijun H; Hou, Ziyi Z; Rosen, Jonathan D JD; Tapia, Amanda L AL; Shan, Yue Y; Jain, Deepti D; Argos, Maria M; Arnett, Donna K DK; Avery, Christy C; Barnes, Kathleen C KC; Becker, Lewis C LC; Bien, Stephanie A SA; Bis, Joshua C JC; Blangero, John J; Boerwinkle, Eric E; Bowden, Donald W DW; Buyske, Steve S; Cai, Jianwen J; Cho, Michael H MH; Choi, Seung Hoan SH; Choquet, Hélène H; Cupples, L Adrienne LA; Cushman, Mary M; Daya, Michelle M; de Vries, Paul S PS; Ellinor, Patrick T PT; Faraday, Nauder N; Fornage, Myriam M; Gabriel, Stacey S; Ganesh, Santhi K SK; Graff, Misa M; Gupta, Namrata N; He, Jiang J; Heckbert, Susan R SR; Hidalgo, Bertha B; Hodonsky, Chani J CJ; Irvin, Marguerite R MR; Johnson, Andrew D AD; Jorgenson, Eric E; Kaplan, Robert R; Kardia, Sharon L R SLR; Kelly, Tanika N TN; Kooperberg, Charles C; Lasky-Su, Jessica A JA; Loos, Ruth J F RJF; Lubitz, Steven A SA; Mathias, Rasika A RA; McHugh, Caitlin P CP; Montgomery, Courtney C; Moon, Jee-Young JY; Morrison, Alanna C AC; Palmer, Nicholette D ND; Pankratz, Nathan N; Papanicolaou, George J GJ; Peralta, Juan M JM; Peyser, Patricia A PA; Rich, Stephen S SS; Rotter, Jerome I JI; Silverman, Edwin K EK; Smith, Jennifer A JA; Smith, Nicholas L NL; Taylor, Kent D KD; Thornton, Timothy A TA; Tiwari, Hemant K HK; Tracy, Russell P RP; Wang, Tao T; Weiss, Scott T ST; Weng, Lu-Chen LC; Wiggins, Kerri L KL; Wilson, James G JG; Yanek, Lisa R LR; Zöllner, Sebastian S; North, Kari E KE; Auer, Paul L PL; , ; , ; Raffield, Laura M LM; Reiner, Alexander P AP; Li, Yun Y
Publication Date: 2019-12

Variant appearance in text: rs33930165
PubMed Link: 31869403
Variant Present in the following documents:
  • pgen.1008500.s028.pdf
  • pgen.1008500.pdf
View BVdb publication page



Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania.

Nature Communications
,
Publication Date: 2019-12-16

Variant appearance in text: rs33930165
PubMed Link: 31844061
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPT.

Scientific Reports
Tsao, David S DS; Silas, Sukrit S; Landry, Brian P BP; Itzep, Nelda P NP; Nguyen, Amy B AB; Greenberg, Samuel S; Kanne, Celeste K CK; Sheehan, Vivien A VA; Sharma, Rani R; Shukla, Rahul R; Arora, Prem N PN; Atay, Oguzhan O
Publication Date: 2019-10-07

Variant appearance in text: rs33930165
PubMed Link: 31591409
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_50378.pdf
View BVdb publication page



Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: rs33930165
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Thirty-year risk of ischemic stroke in individuals with sickle cell trait and modification by chronic kidney disease: The atherosclerosis risk in communities (ARIC) study.

American Journal Of Hematology
Caughey, Melissa C MC; Derebail, Vimal K VK; Key, Nigel S NS; Reiner, Alexander P AP; Gottesman, Rebecca F RF; Kshirsagar, Abhijit V AV; Heiss, Gerardo G
Publication Date: 2019-12

Variant appearance in text: rs33930165
PubMed Link: 31429114
Variant Present in the following documents:
  • Main text
View BVdb publication page



NCR3 polymorphism, haematological parameters, and severe malaria in Senegalese patients.

Peerj
Thiam, Alassane A; Baaklini, Sabrina S; Mbengue, Babacar B; Nisar, Samia S; Diarra, Maryam M; Marquet, Sandrine S; Fall, Mouhamadou Mansour MM; Sanka, Michel M; Thiam, Fatou F; Diallo, Rokhaya Ndiaye RN; Torres, Magali M; Dieye, Alioune A; Rihet, Pascal P
Publication Date: 2018

Variant appearance in text: rs33930165
PubMed Link: 30533319
Variant Present in the following documents:
  • Main text
  • peerj-06-6048.pdf
View BVdb publication page



Development and evaluation of a transfusion medicine genome wide genotyping array.

Transfusion
Guo, Yuelong Y; Busch, Michael P MP; Seielstad, Mark M; Endres-Dighe, Stacy S; Westhoff, Connie M CM; Keating, Brendan B; Hoppe, Carolyn C; Bordbar, Aarash A; Custer, Brian B; Butterworth, Adam S AS; Kanias, Tamir T; Mast, Alan E AE; Kleinman, Steve S; Lu, Yontao Y; Page, Grier P GP; ,
Publication Date: 2019-01

Variant appearance in text: rs33930165
PubMed Link: 30456907
Variant Present in the following documents:
  • Main text
View BVdb publication page



African genetic diversity provides novel insights into evolutionary history and local adaptations.

Human Molecular Genetics
Choudhury, Ananyo A; Aron, Shaun S; Sengupta, Dhriti D; Hazelhurst, Scott S; Ramsay, Michèle M
Publication Date: 2018-08-01

Variant appearance in text: rs33930165
PubMed Link: 29741686
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.

Plos Genetics
Raffield, Laura M LM; Ulirsch, Jacob C JC; Naik, Rakhi P RP; Lessard, Samuel S; Handsaker, Robert E RE; Jain, Deepti D; Kang, Hyun M HM; Pankratz, Nathan N; Auer, Paul L PL; Bao, Erik L EL; Smith, Joshua D JD; Lange, Leslie A LA; Lange, Ethan M EM; Li, Yun Y; Thornton, Timothy A TA; Young, Bessie A BA; Abecasis, Goncalo R GR; Laurie, Cathy C CC; Nickerson, Deborah A DA; McCarroll, Steven A SA; Correa, Adolfo A; Wilson, James G JG; , ; Lettre, Guillaume G; Sankaran, Vijay G VG; Reiner, Alex P AP
Publication Date: 2018-03

Variant appearance in text: rs33930165
PubMed Link: 29590102
Variant Present in the following documents:
  • Main text
  • pgen.1007293.pdf
View BVdb publication page



Genetic variants of RNASE3 (ECP) and susceptibility to severe malaria in Senegalese population.

Malaria Journal
Diop, Gora G; Derbois, Céline C; Loucoubar, Cheikh C; Mbengue, Babacar B; Ndao, Bineta Niakhana BN; Thiam, Fatou F; Thiam, Alassane A; Ndiaye, Rokhaya R; Dieye, Yakhya Y; Olaso, Robert R; Deleuze, Jean-Francois JF; Dieye, Alioune A
Publication Date: 2018-02-05

Variant appearance in text: rs33930165
PubMed Link: 29402293
Variant Present in the following documents:
  • Main text
View BVdb publication page



D-Dimer in African Americans: Whole Genome Sequence Analysis and Relationship to Cardiovascular Disease Risk in the Jackson Heart Study.

Arteriosclerosis, Thrombosis, And Vascular Biology
Raffield, Laura M LM; Zakai, Neil A NA; Duan, Qing Q; Laurie, Cecelia C; Smith, Joshua D JD; Irvin, Marguerite R MR; Doyle, Margaret F MF; Naik, Rakhi P RP; Song, Ci C; Manichaikul, Ani W AW; Liu, Yongmei Y; Durda, Peter P; Rotter, Jerome I JI; Jenny, Nancy S NS; Rich, Stephen S SS; Wilson, James G JG; Johnson, Andrew D AD; Correa, Adolfo A; Li, Yun Y; Nickerson, Deborah A DA; Rice, Kenneth K; Lange, Ethan M EM; Cushman, Mary M; Lange, Leslie A LA; Reiner, Alex P AP; ,
Publication Date: 2017-11

Variant appearance in text: rs33930165
PubMed Link: 28912365
Variant Present in the following documents:
  • Main text
View BVdb publication page



Malaria was a weak selective force in ancient Europeans.

Scientific Reports
Gelabert, Pere P; Olalde, Iñigo I; de-Dios, Toni T; Civit, Sergi S; Lalueza-Fox, Carles C
Publication Date: 2017-05-03

Variant appearance in text: rs33930165
PubMed Link: 28469196
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.

Plos Genetics
Hodonsky, Chani J CJ; Jain, Deepti D; Schick, Ursula M UM; Morrison, Jean V JV; Brown, Lisa L; McHugh, Caitlin P CP; Schurmann, Claudia C; Chen, Diane D DD; Liu, Yong Mei YM; Auer, Paul L PL; Laurie, Cecilia A CA; Taylor, Kent D KD; Browning, Brian L BL; Li, Yun Y; Papanicolaou, George G; Rotter, Jerome I JI; Kurita, Ryo R; Nakamura, Yukio Y; Browning, Sharon R SR; Loos, Ruth J F RJF; North, Kari E KE; Laurie, Cathy C CC; Thornton, Timothy A TA; Pankratz, Nathan N; Bauer, Daniel E DE; Sofer, Tamar T; Reiner, Alex P AP
Publication Date: 2017-04

Variant appearance in text: rs33930165
PubMed Link: 28453575
Variant Present in the following documents:
  • Main text
  • pgen.1006760.pdf
View BVdb publication page



Investigation of mutations in the HBB gene using the 1,000 genomes database.

Plos One
Carlice-Dos-Reis, Tânia T; Viana, Jaime J; Moreira, Fabiano Cordeiro FC; Cardoso, Greice de Lemos GL; Guerreiro, João J; Santos, Sidney S; Ribeiro-Dos-Santos, Ândrea Â
Publication Date: 2017

Variant appearance in text: rs33930165
PubMed Link: 28379995
Variant Present in the following documents:
  • Main text
  • pone.0174637.pdf
View BVdb publication page



Characterisation of the opposing effects of G6PD deficiency on cerebral malaria and severe malarial anaemia.

Elife
Clarke, Geraldine M GM; Rockett, Kirk K; Kivinen, Katja K; Hubbart, Christina C; Jeffreys, Anna E AE; Rowlands, Kate K; Jallow, Muminatou M; Conway, David J DJ; Bojang, Kalifa A KA; Pinder, Margaret M; Usen, Stanley S; Sisay-Joof, Fatoumatta F; Sirugo, Giorgio G; Toure, Ousmane O; Thera, Mahamadou A MA; Konate, Salimata S; Sissoko, Sibiry S; Niangaly, Amadou A; Poudiougou, Belco B; Mangano, Valentina D VD; Bougouma, Edith C EC; Sirima, Sodiomon B SB; Modiano, David D; Amenga-Etego, Lucas N LN; Ghansah, Anita A; Koram, Kwadwo A KA; Wilson, Michael D MD; Enimil, Anthony A; Evans, Jennifer J; Amodu, Olukemi K OK; Olaniyan, Subulade S; Apinjoh, Tobias T; Mugri, Regina R; Ndi, Andre A; Ndila, Carolyne M CM; Uyoga, Sophie S; Macharia, Alexander A; Peshu, Norbert N; Williams, Thomas N TN; Manjurano, Alphaxard A; Sepúlveda, Nuno N; Clark, Taane G TG; Riley, Eleanor E; Drakeley, Chris C; Reyburn, Hugh H; Nyirongo, Vysaul V; Kachala, David D; Molyneux, Malcolm M; Dunstan, Sarah J SJ; Phu, Nguyen Hoan NH; Quyen, Nguyen Ngoc NN; Thai, Cao Quang CQ; Hien, Tran Tinh TT; Manning, Laurens L; Laman, Moses M; Siba, Peter P; Karunajeewa, Harin H; Allen, Steve S; Allen, Angela A; Davis, Timothy Me TM; Michon, Pascal P; Mueller, Ivo I; Molloy, Síle F SF; Campino, Susana S; Kerasidou, Angeliki A; Cornelius, Victoria J VJ; Hart, Lee L; Shah, Shivang S SS; Band, Gavin G; Spencer, Chris Ca CC; Agbenyega, Tsiri T; Achidi, Eric E; Doumbo, Ogobara K OK; Farrar, Jeremy J; Marsh, Kevin K; Taylor, Terrie T; Kwiatkowski, Dominic P DP; ,
Publication Date: 2017-01-09

Variant appearance in text: rs33930165
PubMed Link: 28067620
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association among sickle cell trait, fitness, and cardiovascular risk factors in CARDIA.

Blood
Liem, Robert I RI; Chan, Cheeling C; Vu, Thanh-Huyen T TT; Fornage, Myriam M; Thompson, Alexis A AA; Liu, Kiang K; Carnethon, Mercedes R MR
Publication Date: 2017-02-09

Variant appearance in text: rs33930165
PubMed Link: 27856464
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs33930165
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Genetic determinants of anti-malarial acquired immunity in a large multi-centre study.

Malaria Journal
Shelton, Jennifer M G JM; Corran, Patrick P; Risley, Paul P; Silva, Nilupa N; Hubbart, Christina C; Jeffreys, Anna A; Rowlands, Kate K; Craik, Rachel R; Cornelius, Victoria V; Hensmann, Meike M; Molloy, Sile S; Sepulveda, Nuno N; Clark, Taane G TG; Band, Gavin G; Clarke, Geraldine M GM; Spencer, Christopher C A CC; Kerasidou, Angeliki A; Campino, Susana S; Auburn, Sarah S; Tall, Adama A; Ly, Alioune Badara AB; Mercereau-Puijalon, Odile O; Sakuntabhai, Anavaj A; Djimdé, Abdoulaye A; Maiga, Boubacar B; Touré, Ousmane O; Doumbo, Ogobara K OK; Dolo, Amagana A; Troye-Blomberg, Marita M; Mangano, Valentina D VD; Verra, Frederica F; Modiano, David D; Bougouma, Edith E; Sirima, Sodiomon B SB; Ibrahim, Muntaser M; Hussain, Ayman A; Eid, Nahid N; Elzein, Abier A; Mohammed, Hiba H; Elhassan, Ahmed A; Elhassan, Ibrahim I; Williams, Thomas N TN; Ndila, Carolyne C; Macharia, Alexander A; Marsh, Kevin K; Manjurano, Alphaxard A; Reyburn, Hugh H; Lemnge, Martha M; Ishengoma, Deus D; Carter, Richard R; Karunaweera, Nadira N; Fernando, Deepika D; Dewasurendra, Rajika R; Drakeley, Christopher J CJ; Riley, Eleanor M EM; Kwiatkowski, Dominic P DP; Rockett, Kirk A KA; ,
Publication Date: 2015-08-28

Variant appearance in text: rs33930165
PubMed Link: 26314886
Variant Present in the following documents:
  • Main text
  • 12936_2015_Article_833.pdf
View BVdb publication page



The influence of host genetics on erythrocytes and malaria infection: is there therapeutic potential?

Malaria Journal
Lelliott, Patrick M PM; McMorran, Brendan J BJ; Foote, Simon J SJ; Burgio, Gaetan G
Publication Date: 2015-07-29

Variant appearance in text: rs33930165
PubMed Link: 26215182
Variant Present in the following documents:
  • Main text
View BVdb publication page



USP38, FREM3, SDC1, DDC, and LOC727982 Gene Polymorphisms and Differential Susceptibility to Severe Malaria in Tanzania.

The Journal Of Infectious Diseases
Manjurano, Alphaxard A; Sepúlveda, Nuno N; Nadjm, Behzad B; Mtove, George G; Wangai, Hannah H; Maxwell, Caroline C; Olomi, Raimos R; Reyburn, Hugh H; Drakeley, Christopher J CJ; Riley, Eleanor M EM; Clark, Taane G TG; ,
Publication Date: 2015-10-01

Variant appearance in text: rs33930165
PubMed Link: 25805752
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel Insights Into the Protective Role of Hemoglobin S and C Against Plasmodium falciparum Parasitemia.

The Journal Of Infectious Diseases
Mangano, Valentina D VD; Kabore, Youssouf Y; Bougouma, Edith C EC; Verra, Federica F; Sepulveda, Nuno N; Bisseye, Cyrille C; Santolamazza, Federica F; Avellino, Pamela P; Tiono, Alfred B AB; Diarra, Amidou A; Nebie, Issa I; Rockett, Kirk A KA; Sirima, Sodiomon B SB; Modiano, David D; ,
Publication Date: 2015-08-15

Variant appearance in text: rs33930165
PubMed Link: 25712976
Variant Present in the following documents:
  • Main text
View BVdb publication page



African glucose-6-phosphate dehydrogenase alleles associated with protection from severe malaria in heterozygous females in Tanzania.

Plos Genetics
Manjurano, Alphaxard A; Sepulveda, Nuno N; Nadjm, Behzad B; Mtove, George G; Wangai, Hannah H; Maxwell, Caroline C; Olomi, Raimos R; Reyburn, Hugh H; Riley, Eleanor M EM; Drakeley, Christopher J CJ; Clark, Taane G TG; ,
Publication Date: 2015-02

Variant appearance in text: rs33930165
PubMed Link: 25671784
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prospective study of sickle cell trait and venous thromboembolism incidence.

Journal Of Thrombosis And Haemostasis : Jth
Folsom, A R AR; Tang, W W; Roetker, N S NS; Kshirsagar, A V AV; Derebail, V K VK; Lutsey, P L PL; Naik, R R; Pankow, J S JS; Grove, M L ML; Basu, S S; Key, N S NS; Cushman, M M
Publication Date: 2015-01

Variant appearance in text: rs33930165
PubMed Link: 25393788
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reappraisal of known malaria resistance loci in a large multicenter study.

Nature Genetics
, ; ,
Publication Date: 2014-11

Variant appearance in text: rs33930165
PubMed Link: 25261933
Variant Present in the following documents:
  • Main text
  • nihms626188.pdf
  • NIHMS626188-supplement-2.pdf
View BVdb publication page



Sickle cell trait and incident ischemic stroke in the Atherosclerosis Risk in Communities study.

Stroke
Caughey, Melissa C MC; Loehr, Laura R LR; Key, Nigel S NS; Derebail, Vimal K VK; Gottesman, Rebecca F RF; Kshirsagar, Abhijit V AV; Grove, Megan L ML; Heiss, Gerardo G
Publication Date: 2014-10

Variant appearance in text: rs33930165
PubMed Link: 25139879
Variant Present in the following documents:
  • Main text
View BVdb publication page



Glucose-6-phosphate dehydrogenase polymorphisms and susceptibility to mild malaria in Dogon and Fulani, Mali.

Malaria Journal
Maiga, Bakary B; Dolo, Amagana A; Campino, Susana S; Sepulveda, Nuno N; Corran, Patrick P; Rockett, Kirk A KA; Troye-Blomberg, Marita M; Doumbo, Ogobara K OK; Clark, Taane G TG
Publication Date: 2014-07-11

Variant appearance in text: rs33930165
PubMed Link: 25015414
Variant Present in the following documents:
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Detection of sickle cell hemoglobin in Haiti by genotyping and hemoglobin solubility tests.

The American Journal Of Tropical Medicine And Hygiene
Carter, Tamar E TE; von Fricken, Michael M; Romain, Jean R JR; Memnon, Gladys G; St Victor, Yves Y; Schick, Laura L; Okech, Bernard A BA; Mulligan, Connie J CJ
Publication Date: 2014-08

Variant appearance in text: rs33930165
PubMed Link: 24957539
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Association of candidate gene polymorphisms and TGF-beta/IL-10 levels with malaria in three regions of Cameroon: a case-control study.

Malaria Journal
Apinjoh, Tobias O TO; Anchang-Kimbi, Judith K JK; Njua-Yafi, Clarisse C; Ngwai, André N AN; Mugri, Regina N RN; Clark, Taane G TG; Rockett, Kirk A KA; Kwiatkowski, Dominic P DP; Achidi, Eric A EA; ,
Publication Date: 2014-06-16

Variant appearance in text: rs33930165
PubMed Link: 24934404
Variant Present in the following documents:
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  • 1475-2875-13-236.pdf
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Self-catalytic DNA depurination underlies human β-globin gene mutations at codon 6 that cause anemias and thalassemias.

The Journal Of Biological Chemistry
Alvarez-Dominguez, Juan R JR; Amosova, Olga O; Fresco, Jacques R JR
Publication Date: 2013-04-19

Variant appearance in text: HBB: 19G>C
PubMed Link: 23457306
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The host genetic diversity in malaria infection.

Journal Of Tropical Medicine
de Mendonça, Vitor R R VR; Goncalves, Marilda Souza MS; Barral-Netto, Manoel M
Publication Date: 2012

Variant appearance in text: rs33930165
PubMed Link: 23316245
Variant Present in the following documents:
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  • JTM2012-940616.pdf
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Candidate polymorphisms and severe malaria in a Malian population.

Plos One
Toure, Ousmane O; Konate, Salimata S; Sissoko, Sibiri S; Niangaly, Amadou A; Barry, Abdoulaye A; Sall, Abdourahmane H AH; Diarra, Elisabeth E; Poudiougou, Belco B; Sepulveda, Nuno N; Campino, Susana S; Rockett, Kirk A KA; Clark, Taane G TG; Thera, Mahamadou A MA; Doumbo, Ogobara O; ,
Publication Date: 2012

Variant appearance in text: rs33930165
PubMed Link: 22957039
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Malaria resistance genes are associated with the levels of IgG subclasses directed against Plasmodium falciparum blood-stage antigens in Burkina Faso.

Malaria Journal
Afridi, Sarwat S; Atkinson, Alexandre A; Garnier, Séverine S; Fumoux, Francis F; Rihet, Pascal P
Publication Date: 2012-09-04

Variant appearance in text: rs33930165
PubMed Link: 22947458
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Haplotype analyses of haemoglobin C and haemoglobin S and the dynamics of the evolutionary response to malaria in Kassena-Nankana District of Ghana.

Plos One
Ghansah, Anita A; Rockett, Kirk A KA; Clark, Taane G TG; Wilson, Michael D MD; Koram, Kwadwo A KA; Oduro, Abraham R AR; Amenga-Etego, Lucas L; Anyorigiya, Thomas T; Hodgson, Abraham A; Milligan, Paul P; Rogers, William O WO; Kwiatkowski, Dominic P DP
Publication Date: 2012

Variant appearance in text: rs33930165
PubMed Link: 22506028
Variant Present in the following documents:
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  • pone.0034565.pdf
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