PLA2G6 c.-45-3528T>C

Variant ID: 22-38569006-A-G

NM_003560.2(PLA2G6):c.-45-3528T>C

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.

Current Oncology (Toronto, Ont.)
Davari, Danielle R DR; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Gibbs, David C DC; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE
Publication Date: 2021-11-16

Variant appearance in text: rs738322
PubMed Link: 34898573
Variant Present in the following documents:
  • Main text
  • curroncol-28-00401.pdf
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Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.

Current Oncology (Toronto, Ont.)
Davari, Danielle R DR; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Gibbs, David C DC; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE
Publication Date: 2021-11-16

Variant appearance in text: rs738322
PubMed Link: 34898573
Variant Present in the following documents:
  • Main text
  • curroncol-28-00401.pdf
View BVdb publication page



Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.

Jama Cardiology
Björnsson, Eythór E; Thorleifsson, Guðmar G; Helgadóttir, Anna A; Guðnason, Thórarinn T; Guðbjartsson, Tómas T; Andersen, Karl K; Grétarsdóttir, Sólveig S; Ólafsson, Ísleifur Í; Tragante, Vinicius V; Ólafsson, Ólafur Hreiðar ÓH; Jónsdóttir, Birna B; Eyjólfsson, Guðmundur I GI; Sigurðardóttir, Ólöf Ó; Thorgeirsson, Guðmundur G; Guðbjartsson, Daníel F DF; Thorsteinsdóttir, Unnur U; Hólm, Hilma H; Stefánsson, Kári K
Publication Date: 2020-01-01

Variant appearance in text: rs738322
PubMed Link: 31746962
Variant Present in the following documents:
  • jamacardiol-5-13-s001.pdf
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Inherited Melanoma Risk Variants Associated with Histopathologically Amelanotic Melanoma.

The Journal Of Investigative Dermatology
Gibbs, David Corley DC; Orlow, Irene I; Vernali, Steven S; Powell, Helen B HB; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Armstrong, Bruce K BK; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE; ,
Publication Date: 2020-04

Variant appearance in text: rs738322
PubMed Link: 31568773
Variant Present in the following documents:
  • Main text
View BVdb publication page



The transferability of lipid loci across African, Asian and European cohorts.

Nature Communications
Kuchenbaecker, Karoline K; Telkar, Nikita N; Reiker, Theresa T; Walters, Robin G RG; Lin, Kuang K; Eriksson, Anders A; Gurdasani, Deepti D; Gilly, Arthur A; Southam, Lorraine L; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Seeley, Janet J; Kamali, Anatoli A; Asiki, Gershim G; Millwood, Iona Y IY; Holmes, Michael M; Du, Huaidong H; Guo, Yu Y; Kumari, Meena M; Dedoussis, George G; Li, Liming L; Chen, Zhengming Z; Sandhu, Manjinder S MS; Zeggini, Eleftheria E; ,
Publication Date: 2019-09-24

Variant appearance in text: rs738322
PubMed Link: 31551420
Variant Present in the following documents:
  • 41467_2019_12026_MOESM1_ESM.pdf
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Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

Nature Communications
Duffy, David L DL; Zhu, Gu G; Li, Xin X; Sanna, Marianna M; Iles, Mark M MM; Jacobs, Leonie C LC; Evans, David M DM; Yazar, Seyhan S; Beesley, Jonathan J; Law, Matthew H MH; Kraft, Peter P; Visconti, Alessia A; Taylor, John C JC; Liu, Fan F; Wright, Margaret J MJ; Henders, Anjali K AK; Bowdler, Lisa L; Glass, Dan D; Ikram, M Arfan MA; Uitterlinden, André G AG; Madden, Pamela A PA; Heath, Andrew C AC; Nelson, Elliot C EC; Green, Adele C AC; Chanock, Stephen S; Barrett, Jennifer H JH; Brown, Matthew A MA; Hayward, Nicholas K NK; MacGregor, Stuart S; Sturm, Richard A RA; Hewitt, Alex W AW; , ; Kayser, Manfred M; Hunter, David J DJ; Newton Bishop, Julia A JA; Spector, Timothy D TD; Montgomery, Grant W GW; Mackey, David A DA; Smith, George Davey GD; Nijsten, Tamar E TE; Bishop, D Timothy DT; Bataille, Veronique V; Falchi, Mario M; Han, Jiali J; Martin, Nicholas G NG
Publication Date: 2018-11-14

Variant appearance in text: rs738322
PubMed Link: 30429480
Variant Present in the following documents:
  • 41467_2018_6649_MOESM1_ESM.pdf
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Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes.

Genome Research
Zhang, Tongwu T; Choi, Jiyeon J; Kovacs, Michael A MA; Shi, Jianxin J; Xu, Mai M; , ; , ; Goldstein, Alisa M AM; Trower, Adam J AJ; Bishop, D Timothy DT; Iles, Mark M MM; Duffy, David L DL; MacGregor, Stuart S; Amundadottir, Laufey T LT; Law, Matthew H MH; Loftus, Stacie K SK; Pavan, William J WJ; Brown, Kevin M KM
Publication Date: 2018-11

Variant appearance in text: rs738322
PubMed Link: 30333196
Variant Present in the following documents:
  • 1621.pdf
View BVdb publication page



Inherited Genetic Variants Associated with Melanoma BRAF/NRAS Subtypes.

The Journal Of Investigative Dermatology
Thomas, Nancy E NE; Edmiston, Sharon N SN; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Gibbs, David C DC; Parrish, Eloise A EA; Hao, Honglin H; Busam, Klaus J KJ; Armstrong, Bruce K BK; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Conway, Kathleen K; ,
Publication Date: 2018-11

Variant appearance in text: rs738322
PubMed Link: 29753029
Variant Present in the following documents:
  • Main text
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The phosphatidylinositide 3-kinase (PI3K) signaling pathway is a determinant of zileuton response in adults with asthma.

The Pharmacogenomics Journal
Dahlin, Amber A; Qiu, Weiliang W; Litonjua, Augusto A AA; Lima, John J JJ; Tamari, Mayumi M; Kubo, Michiaki M; Irvin, Charles G CG; Peters, Stephen P SP; Wu, Ann C AC; Weiss, Scott T ST; Tantisira, Kelan G KG
Publication Date: 2018-09

Variant appearance in text: rs738322
PubMed Link: 29298996
Variant Present in the following documents:
  • Main text
  • 41397_2017_Article_6.pdf
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Higher Nevus Count Exhibits a Distinct DNA Methylation Signature in Healthy Human Skin: Implications for Melanoma.

The Journal Of Investigative Dermatology
Roos, Leonie L; Sandling, Johanna K JK; Bell, Christopher G CG; Glass, Daniel D; Mangino, Massimo M; Spector, Tim D TD; Deloukas, Panos P; Bataille, Veronique V; Bell, Jordana T JT
Publication Date: 2017-04

Variant appearance in text: rs738322
PubMed Link: 27993549
Variant Present in the following documents:
  • Main text
View BVdb publication page



New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk.

Nature Communications
Lu, Yingchang Y; Day, Felix R FR; Gustafsson, Stefan S; Buchkovich, Martin L ML; Na, Jianbo J; Bataille, Veronique V; Cousminer, Diana L DL; Dastani, Zari Z; Drong, Alexander W AW; Esko, Tõnu T; Evans, David M DM; Falchi, Mario M; Feitosa, Mary F MF; Ferreira, Teresa T; Hedman, Åsa K ÅK; Haring, Robin R; Hysi, Pirro G PG; Iles, Mark M MM; Justice, Anne E AE; Kanoni, Stavroula S; Lagou, Vasiliki V; Li, Rui R; Li, Xin X; Locke, Adam A; Lu, Chen C; Mägi, Reedik R; Perry, John R B JR; Pers, Tune H TH; Qi, Qibin Q; Sanna, Marianna M; Schmidt, Ellen M EM; Scott, William R WR; Shungin, Dmitry D; Teumer, Alexander A; Vinkhuyzen, Anna A E AA; Walker, Ryan W RW; Westra, Harm-Jan HJ; Zhang, Mingfeng M; Zhang, Weihua W; Zhao, Jing Hua JH; Zhu, Zhihong Z; Afzal, Uzma U; Ahluwalia, Tarunveer Singh TS; Bakker, Stephan J L SJ; Bellis, Claire C; Bonnefond, Amélie A; Borodulin, Katja K; Buchman, Aron S AS; Cederholm, Tommy T; Choh, Audrey C AC; Choi, Hyung Jin HJ; Curran, Joanne E JE; de Groot, Lisette C P G M LC; De Jager, Philip L PL; Dhonukshe-Rutten, Rosalie A M RA; Enneman, Anke W AW; Eury, Elodie E; Evans, Daniel S DS; Forsen, Tom T; Friedrich, Nele N; Fumeron, Frédéric F; Garcia, Melissa E ME; Gärtner, Simone S; Han, Bok-Ghee BG; Havulinna, Aki S AS; Hayward, Caroline C; Hernandez, Dena D; Hillege, Hans H; Ittermann, Till T; Kent, Jack W JW; Kolcic, Ivana I; Laatikainen, Tiina T; Lahti, Jari J; Mateo Leach, Irene I; Lee, Christine G CG; Lee, Jong-Young JY; Liu, Tian T; Liu, Youfang Y; Lobbens, Stéphane S; Loh, Marie M; Lyytikäinen, Leo-Pekka LP; Medina-Gomez, Carolina C; Michaëlsson, Karl K; Nalls, Mike A MA; Nielson, Carrie M CM; Oozageer, Laticia L; Pascoe, Laura L; Paternoster, Lavinia L; Polašek, Ozren O; Ripatti, Samuli S; Sarzynski, Mark A MA; Shin, Chan Soo CS; Narančić, Nina Smolej NS; Spira, Dominik D; Srikanth, Priya P; Steinhagen-Thiessen, Elisabeth E; Sung, Yun Ju YJ; Swart, Karin M A KM; Taittonen, Leena L; Tanaka, Toshiko T; Tikkanen, Emmi E; van der Velde, Nathalie N; van Schoor, Natasja M NM; Verweij, Niek N; Wright, Alan F AF; Yu, Lei L; Zmuda, Joseph M JM; Eklund, Niina N; Forrester, Terrence T; Grarup, Niels N; Jackson, Anne U AU; Kristiansson, Kati K; Kuulasmaa, Teemu T; Kuusisto, Johanna J; Lichtner, Peter P; Luan, Jian'an J; Mahajan, Anubha A; Männistö, Satu S; Palmer, Cameron D CD; Ried, Janina S JS; Scott, Robert A RA; Stancáková, Alena A; Wagner, Peter J PJ; Demirkan, Ayse A; Döring, Angela A; Gudnason, Vilmundur V; Kiel, Douglas P DP; Kühnel, Brigitte B; Mangino, Massimo M; Mcknight, Barbara B; Menni, Cristina C; O'Connell, Jeffrey R JR; Oostra, Ben A BA; Shuldiner, Alan R AR; Song, Kijoung K; Vandenput, Liesbeth L; van Duijn, Cornelia M CM; Vollenweider, Peter P; White, Charles C CC; Boehnke, Michael M; Boettcher, Yvonne Y; Cooper, Richard S RS; Forouhi, Nita G NG; Gieger, Christian C; Grallert, Harald H; Hingorani, Aroon A; Jørgensen, Torben T; Jousilahti, Pekka P; Kivimaki, Mika M; Kumari, Meena M; Laakso, Markku M; Langenberg, Claudia C; Linneberg, Allan A; Luke, Amy A; Mckenzie, Colin A CA; Palotie, Aarno A; Pedersen, Oluf O; Peters, Annette A; Strauch, Konstantin K; Tayo, Bamidele O BO; Wareham, Nicholas J NJ; Bennett, David A DA; Bertram, Lars L; Blangero, John J; Blüher, Matthias M; Bouchard, Claude C; Campbell, Harry H; Cho, Nam H NH; Cummings, Steven R SR; Czerwinski, Stefan A SA; Demuth, Ilja I; Eckardt, Rahel R; Eriksson, Johan G JG; Ferrucci, Luigi L; Franco, Oscar H OH; Froguel, Philippe P; Gansevoort, Ron T RT; Hansen, Torben T; Harris, Tamara B TB; Hastie, Nicholas N; Heliövaara, Markku M; Hofman, Albert A; Jordan, Joanne M JM; Jula, Antti A; Kähönen, Mika M; Kajantie, Eero E; Knekt, Paul B PB; Koskinen, Seppo S; Kovacs, Peter P; Lehtimäki, Terho T; Lind, Lars L; Liu, Yongmei Y; Orwoll, Eric S ES; Osmond, Clive C; Perola, Markus M; Pérusse, Louis L; Raitakari, Olli T OT; Rankinen, Tuomo T; Rao, D C DC; Rice, Treva K TK; Rivadeneira, Fernando F; Rudan, Igor I; Salomaa, Veikko V; Sørensen, Thorkild I A TI; Stumvoll, Michael M; Tönjes, Anke A; Towne, Bradford B; Tranah, Gregory J GJ; Tremblay, Angelo A; Uitterlinden, André G AG; van der Harst, Pim P; Vartiainen, Erkki E; Viikari, Jorma S JS; Vitart, Veronique V; Vohl, Marie-Claude MC; Völzke, Henry H; Walker, Mark M; Wallaschofski, Henri H; Wild, Sarah S; Wilson, James F JF; Yengo, Loïc L; Bishop, D Timothy DT; Borecki, Ingrid B IB; Chambers, John C JC; Cupples, L Adrienne LA; Dehghan, Abbas A; Deloukas, Panos P; Fatemifar, Ghazaleh G; Fox, Caroline C; Furey, Terrence S TS; Franke, Lude L; Han, Jiali J; Hunter, David J DJ; Karjalainen, Juha J; Karpe, Fredrik F; Kaplan, Robert C RC; Kooner, Jaspal S JS; McCarthy, Mark I MI; Murabito, Joanne M JM; Morris, Andrew P AP; Bishop, Julia A N JA; North, Kari E KE; Ohlsson, Claes C; Ong, Ken K KK; Prokopenko, Inga I; Richards, J Brent JB; Schadt, Eric E EE; Spector, Tim D TD; Widén, Elisabeth E; Willer, Cristen J CJ; Yang, Jian J; Ingelsson, Erik E; Mohlke, Karen L KL; Hirschhorn, Joel N JN; Pospisilik, John Andrew JA; Zillikens, M Carola MC; Lindgren, Cecilia C; Kilpeläinen, Tuomas Oskari TO; Loos, Ruth J F RJ
Publication Date: 2016-02-01

Variant appearance in text: rs738322
PubMed Link: 26833246
Variant Present in the following documents:
  • Main text
  • ncomms10495-s1.pdf
View BVdb publication page



Inherited genetic variants associated with occurrence of multiple primary melanoma.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Gibbs, David C DC; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Kricker, Anne A; Armstrong, Bruce K BK; Anton-Culver, Hoda H; Gruber, Stephen B SB; Marrett, Loraine D LD; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Dwyer, Terence T; Sharma, Ajay A; La Pilla, Emily E; From, Lynn L; Busam, Klaus J KJ; Cust, Anne E AE; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE; ,
Publication Date: 2015-06

Variant appearance in text: rs738322
PubMed Link: 25837821
Variant Present in the following documents:
  • Main text
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Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.

Nature Communications
Lindström, Sara S; Thompson, Deborah J DJ; Paterson, Andrew D AD; Li, Jingmei J; Gierach, Gretchen L GL; Scott, Christopher C; Stone, Jennifer J; Douglas, Julie A JA; dos-Santos-Silva, Isabel I; Fernandez-Navarro, Pablo P; Verghase, Jajini J; Smith, Paula P; Brown, Judith J; Luben, Robert R; Wareham, Nicholas J NJ; Loos, Ruth J F RJ; Heit, John A JA; Pankratz, V Shane VS; Norman, Aaron A; Goode, Ellen L EL; Cunningham, Julie M JM; deAndrade, Mariza M; Vierkant, Robert A RA; Czene, Kamila K; Fasching, Peter A PA; Baglietto, Laura L; Southey, Melissa C MC; Giles, Graham G GG; Shah, Kaanan P KP; Chan, Heang-Ping HP; Helvie, Mark A MA; Beck, Andrew H AH; Knoblauch, Nicholas W NW; Hazra, Aditi A; Hunter, David J DJ; Kraft, Peter P; Pollan, Marina M; Figueroa, Jonine D JD; Couch, Fergus J FJ; Hopper, John L JL; Hall, Per P; Easton, Douglas F DF; Boyd, Norman F NF; Vachon, Celine M CM; Tamimi, Rulla M RM
Publication Date: 2014-10-24

Variant appearance in text: rs738322
PubMed Link: 25342443
Variant Present in the following documents:
  • Main text
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Genetic factors associated with naevus count and dermoscopic patterns: preliminary results from the Study of Nevi in Children (SONIC).

The British Journal Of Dermatology
Orlow, I I; Satagopan, J M JM; Berwick, M M; Enriquez, H L HL; White, K A M KA; Cheung, K K; Dusza, S W SW; Oliveria, S A SA; Marchetti, M A MA; Scope, A A; Marghoob, A A AA; Halpern, A C AC
Publication Date: 2015-04

Variant appearance in text: rs738322
PubMed Link: 25307738
Variant Present in the following documents:
  • Main text
  • bjd0172-1081-sd1.pdf
  • bjd0172-1081.pdf
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Association between functional polymorphisms in genes involved in the MAPK signaling pathways and cutaneous melanoma risk.

Carcinogenesis
Liu, Hongliang H; Wang, Li-E LE; Liu, Zhensheng Z; Chen, Wei V WV; Amos, Christopher I CI; Lee, Jeffrey E JE; , ; , ; Iles, Mark M MM; Law, Matthew H MH; Barrett, Jennifer H JH; Montgomery, Grant W GW; Taylor, John C JC; MacGregor, Stuart S; Cust, Anne E AE; Newton Bishop, Julia A JA; Hayward, Nicholas K NK; Bishop, D Timothy DT; Mann, Graham J GJ; Affleck, Paul P; Wei, Qingyi Q
Publication Date: 2013-04

Variant appearance in text: rs738322
PubMed Link: 23291271
Variant Present in the following documents:
  • Main text
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Linking disease associations with regulatory information in the human genome.

Genome Research
Schaub, Marc A MA; Boyle, Alan P AP; Kundaje, Anshul A; Batzoglou, Serafim S; Snyder, Michael M
Publication Date: 2012-09

Variant appearance in text: rs738322
PubMed Link: 22955986
Variant Present in the following documents:
  • 1748.pdf
View BVdb publication page



Polymorphisms in nevus-associated genes MTAP, PLA2G6, and IRF4 and the risk of invasive cutaneous melanoma.

Twin Research And Human Genetics : The Official Journal Of The International Society For Twin Studies
Kvaskoff, Marina M; Whiteman, David C DC; Zhao, Zhen Z ZZ; Montgomery, Grant W GW; Martin, Nicholas G NG; Hayward, Nicholas K NK; Duffy, David L DL
Publication Date: 2011-10

Variant appearance in text: rs738322
PubMed Link: 21962134
Variant Present in the following documents:
  • Main text
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Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk.

Human Molecular Genetics
Nan, Hongmei H; Xu, Mousheng M; Zhang, Jiangwen J; Zhang, Mingfeng M; Kraft, Peter P; Qureshi, Abrar A AA; Chen, Constance C; Guo, Qun Q; Hu, Frank B FB; Rimm, Eric B EB; Curhan, Gary G; Song, Yiqing Y; Amos, Christopher I CI; Wang, Li-E LE; Lee, Jeffrey E JE; Wei, Qingyi Q; Hunter, David J DJ; Han, Jiali J
Publication Date: 2011-07-01

Variant appearance in text: rs738322
PubMed Link: 21478494
Variant Present in the following documents:
  • Main text
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Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.

Nature Genetics
Falchi, Mario M; Bataille, Veronique V; Hayward, Nicholas K NK; Duffy, David L DL; Bishop, Julia A Newton JA; Pastinen, Tomi T; Cervino, Alessandra A; Zhao, Zhen Z ZZ; Deloukas, Panos P; Soranzo, Nicole N; Elder, David E DE; Barrett, Jennifer H JH; Martin, Nicholas G NG; Bishop, D Timothy DT; Montgomery, Grant W GW; Spector, Timothy D TD
Publication Date: 2009-08

Variant appearance in text: rs738322
PubMed Link: 19578365
Variant Present in the following documents:
  • Main text
View BVdb publication page