ABCA4 c.443-1318C>A

Variant ID: 1-94570016-G-T

NM_000350.2(ABCA4):c.443-1318C>A

This variant was identified in 20 publications

View GRCh38 version.




Publications:


Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate.

Medrxiv : The Preprint Server For Health Sciences
Robinson, Kelsey K; Mosley, Trenell J TJ; Rivera-González, Kenneth S KS; Jabbarpour, Christopher R CR; Curtis, Sarah W SW; Adeyemo, Wasiu Lanre WL; Beaty, Terri H TH; Butali, Azeez A; Buxó, Carmen J CJ; Cutler, David J DJ; Epstein, Michael P MP; Gowans, Lord Jj LJ; Hecht, Jacqueline T JT; Murray, Jeffrey C JC; Shaw, Gary M GM; Uribe, Lina Moreno LM; Weinberg, Seth M SM; Brand, Harrison H; Marazita, Mary L ML; Lipinski, Robert J RJ; Leslie, Elizabeth J EJ
Publication Date: 2023-04-06

Variant appearance in text: rs481931
PubMed Link: 37066311
Variant Present in the following documents:
  • nihpp-2023.03.01.23286642v2.pdf
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Association of Blood MCP-1 Levels with Risk of Obstructive Sleep Apnea: A Systematic Review and Meta-Analysis.

Medicina (Kaunas, Lithuania)
Imani, Mohammad Moslem MM; Sadeghi, Masoud M; Mohammadi, Mehdi M; Brühl, Annette Beatrix AB; Sadeghi-Bahmani, Dena D; Brand, Serge S
Publication Date: 2022-09-13

Variant appearance in text: rs481931
PubMed Link: 36143943
Variant Present in the following documents:
  • medicina-58-01266.pdf
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Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis.

Scientific Reports
Slavec, Lara L; Karas Kuželički, Nataša N; Locatelli, Igor I; Geršak, Ksenija K
Publication Date: 2022-01-24

Variant appearance in text: rs481931
PubMed Link: 35075162
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_2159.pdf
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Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis.

Scientific Reports
Slavec, Lara L; Karas Kuželički, Nataša N; Locatelli, Igor I; Geršak, Ksenija K
Publication Date: 2022-01-24

Variant appearance in text: rs481931
PubMed Link: 35075162
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_2159.pdf
View BVdb publication page



Association of ABCA4 Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population.

International Journal Of Environmental Research And Public Health
Zawiślak, Alicja A; Woźniak, Krzysztof K; Agirre, Xabier X; Gupta, Satish S; Kawala, Beata B; Znamirowska-Bajowska, Anna A; Grocholewicz, Katarzyna K; Lubiński, Jan J; Prosper, Felipe F; Jakubowska, Anna A
Publication Date: 2021-10-31

Variant appearance in text: rs481931
PubMed Link: 34769998
Variant Present in the following documents:
  • Main text
  • ijerph-18-11483.pdf
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Polymorphisms of ATP-Binding Cassette, Sub-Family A, Member 4 (rs560426 and rs481931) and Non-Syndromic Cleft Lip/Palate: A Meta-Analysis.

Life (Basel, Switzerland)
Imani, Mohammad Moslem MM; Sadeghi, Masoud M; Tadakamadla, Santosh Kumar SK; Brühl, Annette A; Sadeghi Bahmani, Dena D; Taheri, Mohammad M; Brand, Serge S
Publication Date: 2021-01-15

Variant appearance in text: rs481931
PubMed Link: 33467554
Variant Present in the following documents:
  • Main text
  • life-11-00058.pdf
View BVdb publication page



Association analysis of GWAS hits and non-syndromic cleft lip with/without palate with cleft alveolar in Han population of western China.

International Journal Of Clinical And Experimental Pathology
Duan, Shijun S; Shi, Jiayu J; Shi, Bing B; Jia, Zhonglin Z
Publication Date: 2020

Variant appearance in text: rs481931
PubMed Link: 33165418
Variant Present in the following documents:
  • Main text
View BVdb publication page



MicroRNA-374a, -4680, and -133b suppress cell proliferation through the regulation of genes associated with human cleft palate in cultured human palate cells.

Bmc Medical Genomics
Suzuki, Akiko A; Li, Aimin A; Gajera, Mona M; Abdallah, Nada N; Zhang, Musi M; Zhao, Zhongming Z; Iwata, Junichi J
Publication Date: 2019-07-01

Variant appearance in text: rs481931
PubMed Link: 31262291
Variant Present in the following documents:
  • 12920_2019_546_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genomic analyses in African populations identify novel risk loci for cleft palate.

Human Molecular Genetics
Butali, Azeez A; Mossey, Peter A PA; Adeyemo, Wasiu L WL; Eshete, Mekonen A MA; Gowans, Lord J J LJJ; Busch, Tamara D TD; Jain, Deepti D; Yu, Wenjie W; Huan, Liu L; Laurie, Cecelia A CA; Laurie, Cathy C CC; Nelson, Sarah S; Li, Mary M; Sanchez-Lara, Pedro A PA; Magee, William P WP; Magee, Kathleen S KS; Auslander, Allyn A; Brindopke, Frederick F; Kay, Denise M DM; Caggana, Michele M; Romitti, Paul A PA; Mills, James L JL; Audu, Rosemary R; Onwuamah, Chika C; Oseni, Ganiyu O GO; Owais, Arwa A; James, Olutayo O; Olaitan, Peter B PB; Aregbesola, Babatunde S BS; Braimah, Ramat O RO; Oginni, Fadekemi O FO; Oladele, Ayodeji O AO; Bello, Saidu A SA; Rhodes, Jennifer J; Shiang, Rita R; Donkor, Peter P; Obiri-Yeboah, Solomon S; Arthur, Fareed Kow Nanse FKN; Twumasi, Peter P; Agbenorku, Pius P; Plange-Rhule, Gyikua G; Oti, Alexander Acheampong AA; Ogunlewe, Olugbenga M OM; Oladega, Afisu A AA; Adekunle, Adegbayi A AA; Erinoso, Akinwunmi O AO; Adamson, Olatunbosun O OO; Elufowoju, Abosede A AA; Ayelomi, Oluwanifemi I OI; Hailu, Taiye T; Hailu, Abiye A; Demissie, Yohannes Y; Derebew, Miliard M; Eliason, Steve S; Romero-Bustillous, Miguel M; Lo, Cynthia C; Park, James J; Desai, Shaan S; Mohammed, Muiawa M; Abate, Firke F; Abdur-Rahman, Lukman O LO; Anand, Deepti D; Saadi, Irfaan I; Oladugba, Abimibola V AV; Lachke, Salil A SA; Amendt, Brad A BA; Rotimi, Charles N CN; Marazita, Mary L ML; Cornell, Robert A RA; Murray, Jeffrey C JC; Adeyemo, Adebowale A AA
Publication Date: 2019-03-15

Variant appearance in text: rs481931
PubMed Link: 30452639
Variant Present in the following documents:
  • Main text
View BVdb publication page



Six NSCL/P Loci Show Associations With Normal-Range Craniofacial Variation.

Frontiers In Genetics
Indencleef, Karlijne K; Roosenboom, Jasmien J; Hoskens, Hanne H; White, Julie D JD; Shriver, Mark D MD; Richmond, Stephen S; Peeters, Hilde H; Feingold, Eleanor E; Marazita, Mary L ML; Shaffer, John R JR; Weinberg, Seth M SM; Hens, Greet G; Claes, Peter P
Publication Date: 2018

Variant appearance in text: rs481931
PubMed Link: 30410503
Variant Present in the following documents:
  • Main text
  • fgene-09-00502.pdf
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Dental genetics in Brazil: Where we are.

Molecular Genetics & Genomic Medicine
Casado, Priscila L PL; Quinelato, Valquiria V; Cataldo, Patricia P; Prazeres, Juliana J; Campello, Mariana M; Bonato, Leticia L LL; Aguiar, Telma T
Publication Date: 2018-09

Variant appearance in text: rs481931
PubMed Link: 30078197
Variant Present in the following documents:
  • Main text
  • MGG3-6-689.pdf
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Simulating autosomal genotypes with realistic linkage disequilibrium and a spiked-in genetic effect.

Bmc Bioinformatics
Shi, M M; Umbach, D M DM; Wise, A S AS; Weinberg, C R CR
Publication Date: 2018-01-02

Variant appearance in text: rs481931
PubMed Link: 29291710
Variant Present in the following documents:
  • Main text
  • 12859_2017_Article_2004.pdf
View BVdb publication page



Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

Nature Communications
Yu, Yanqin Y; Zuo, Xianbo X; He, Miao M; Gao, Jinping J; Fu, Yuchuan Y; Qin, Chuanqi C; Meng, Liuyan L; Wang, Wenjun W; Song, Yaling Y; Cheng, Yong Y; Zhou, Fusheng F; Chen, Gang G; Zheng, Xiaodong X; Wang, Xinhuan X; Liang, Bo B; Zhu, Zhengwei Z; Fu, Xiazhou X; Sheng, Yujun Y; Hao, Jiebing J; Liu, Zhongyin Z; Yan, Hansong H; Mangold, Elisabeth E; Ruczinski, Ingo I; Liu, Jianjun J; Marazita, Mary L ML; Ludwig, Kerstin U KU; Beaty, Terri H TH; Zhang, Xuejun X; Sun, Liangdan L; Bian, Zhuan Z
Publication Date: 2017-02-24

Variant appearance in text: rs481931
PubMed Link: 28232668
Variant Present in the following documents:
  • Main text
  • ncomms14364.pdf
View BVdb publication page



Nonsynonymous variants in MYH9 and ABCA4 are the most frequent risk loci associated with nonsyndromic orofacial cleft in Taiwanese population.

Bmc Medical Genetics
Peng, Hsiu-Huei HH; Chang, Nai-Chung NC; Chen, Kuo-Ting KT; Lu, Jang-Jih JJ; Chang, Pi-Yueh PY; Chang, Shih-Cheng SC; Wu-Chou, Yah-Huei YH; Chou, Yi-Ting YT; Phang, Wanni W; Cheng, Po-Jen PJ
Publication Date: 2016-08-15

Variant appearance in text: rs481931
PubMed Link: 27527345
Variant Present in the following documents:
  • Main text
  • 12881_2016_Article_322.pdf
View BVdb publication page



Association Studies and Direct DNA Sequencing Implicate Genetic Susceptibility Loci in the Etiology of Nonsyndromic Orofacial Clefts in Sub-Saharan African Populations.

Journal Of Dental Research
Gowans, L J J LJ; Adeyemo, W L WL; Eshete, M M; Mossey, P A PA; Busch, T T; Aregbesola, B B; Donkor, P P; Arthur, F K N FK; Bello, S A SA; Martinez, A A; Li, M M; Augustine-Akpan, E A EA; Deressa, W W; Twumasi, P P; Olutayo, J J; Deribew, M M; Agbenorku, P P; Oti, A A AA; Braimah, R R; Plange-Rhule, G G; Gesses, M M; Obiri-Yeboah, S S; Oseni, G O GO; Olaitan, P B PB; Abdur-Rahman, L L; Abate, F F; Hailu, T T; Gravem, P P; Ogunlewe, M O MO; Buxó, C J CJ; Marazita, M L ML; Adeyemo, A A AA; Murray, J C JC; Butali, A A
Publication Date: 2016-10

Variant appearance in text: rs481931
PubMed Link: 27369588
Variant Present in the following documents:
  • Main text
View BVdb publication page



Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes.

American Journal Of Medical Genetics. Part A
Leslie, Elizabeth J EJ; Mancuso, Jennifer L JL; Schutte, Brian C BC; Cooper, Margaret E ME; Durda, Kate M KM; L'Heureux, Jamie J; Zucchero, Theresa M TM; Marazita, Mary L ML; Murray, Jeffrey C JC
Publication Date: 2013-10

Variant appearance in text: rs481931
PubMed Link: 23949966
Variant Present in the following documents:
  • Main text
View BVdb publication page



Further evidence of association of the ABCA4 gene with cleft lip/palate.

European Journal Of Oral Sciences
Fontoura, Clarissa C; Silva, Renato M RM; Granjeiro, Jose M JM; Letra, Ariadne A
Publication Date: 2012-12

Variant appearance in text: rs481931
PubMed Link: 23167473
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic studies in the Nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders.

The Cleft Palate-Craniofacial Journal : Official Publication Of The American Cleft Palate-Craniofacial Association
Butali, A A; Mossey, P A PA; Adeyemo, W L WL; Jezewski, P A PA; Onwuamah, C K CK; Ogunlewe, M O MO; Ugboko, V I VI; Adejuyigbe, O O; Adigun, A I AI; Abdur-Rahman, L O LO; Onah, I I II; Audu, R A RA; Idigbe, E O EO; Mansilla, M A MA; Dragan, E A EA; Petrin, A L AL; Bullard, S A SA; Uduezue, A O AO; Akpata, O O; Osaguona, A O AO; Olasoji, H O HO; Ligali, T O TO; Kejeh, B M BM; Iseh, K R KR; Olaitan, P B PB; Adebola, A R AR; Efunkoya, E E; Adesina, O A OA; Oluwatosin, O M OM; Murray, J C JC; ,
Publication Date: 2011-11

Variant appearance in text: rs481931
PubMed Link: 21740177
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of ABCA4 and MAFB with non-syndromic cleft lip with or without cleft palate.

American Journal Of Medical Genetics. Part A
Yuan, Qiuping Q; Blanton, Susan H SH; Hecht, Jacqueline T JT
Publication Date: 2011-06

Variant appearance in text: rs481931
PubMed Link: 21567910
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.

Nature Genetics
Beaty, Terri H TH; Murray, Jeffrey C JC; Marazita, Mary L ML; Munger, Ronald G RG; Ruczinski, Ingo I; Hetmanski, Jacqueline B JB; Liang, Kung Yee KY; Wu, Tao T; Murray, Tanda T; Fallin, M Daniele MD; Redett, Richard A RA; Raymond, Gerald G; Schwender, Holger H; Jin, Sheng-Chih SC; Cooper, Margaret E ME; Dunnwald, Martine M; Mansilla, Maria A MA; Leslie, Elizabeth E; Bullard, Stephen S; Lidral, Andrew C AC; Moreno, Lina M LM; Menezes, Renato R; Vieira, Alexandre R AR; Petrin, Aline A; Wilcox, Allen J AJ; Lie, Rolv T RT; Jabs, Ethylin W EW; Wu-Chou, Yah Huei YH; Chen, Philip K PK; Wang, Hong H; Ye, Xiaoqian X; Huang, Shangzhi S; Yeow, Vincent V; Chong, Samuel S SS; Jee, Sun Ha SH; Shi, Bing B; Christensen, Kaare K; Melbye, Mads M; Doheny, Kimberly F KF; Pugh, Elizabeth W EW; Ling, Hua H; Castilla, Eduardo E EE; Czeizel, Andrew E AE; Ma, Lian L; Field, L Leigh LL; Brody, Lawrence L; Pangilinan, Faith F; Mills, James L JL; Molloy, Anne M AM; Kirke, Peadar N PN; Scott, John M JM; Scott, James M JM; Arcos-Burgos, Mauricio M; Scott, Alan F AF
Publication Date: 2010-06

Variant appearance in text: rs481931
PubMed Link: 20436469
Variant Present in the following documents:
  • Main text
View BVdb publication page