MITOMAP References for Mutation A-G at 10398

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1 12618962 2003 van der Walt, J. M., Nicodemus, K. K., Martin, E. R., Scott, W. K., Nance, M. A., Watts, R. L., Hubble, J. P., Haines, J. L., Koller, W. C., Lyons, K., Pahwa, R., Stern, M. B., Colcher, A., Hiner, B. C., Jankovic, J., Ondo, W. G., Allen, F. H., Jr., Goetz, C. G., Small, G. W., Mastaglia, F., Stajich, J. M., McLaurin, A. C., Middleton, L. T., Scott, B. L., Schmechel, D. E., Pericak-Vance, M. A., Vance, J. M. (2003) Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease American Journal of Human Genetics . 72 (4): 804-811 .
2 15827561 2005 Ghezzi, D., Marelli, C., Achilli, A., Goldwurm, S., Pezzoli, G., Barone, P., Pellecchia, M. T., Stanzione, P., Brusa, L., Bentivoglio, A. R., Bonuccelli, U., Petrozzi, L., Abbruzzese, G., Marchese, R., Cortelli, P., Grimaldi, D., Martinelli, P., Ferrarese, C., Garavaglia, B., Sangiorgi, S., Carelli, V., Torroni, A., Albanese, A., Zeviani, M. (2005) Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians European Journal of Human Genetics . 13 (6): 748-752 .
3 15786469 2005 Pyle, A., Foltynie, T., Tiangyou, W., Lambert, C., Keers, S. M., Allcock, L. M., Davison, J., Lewis, S. J., Perry, R. H., Barker, R., Burn, D. J., Chinnery, P. F. (2005) Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD Annals of Neurology . 57 (4): 564-567 .
4 16140977 2005 Canter, J. A., Kallianpur, A. R., Parl, F. F., Millikan, R. C. (2005) Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African-American women Cancer Research . 65 (17): 8028-8033 .
5 15483642 2005 Niemi, A. K., Moilanen, J. S., Tanaka, M., Hervonen, A., Hurme, M., Lehtimaki, T., Arai, Y., Hirose, N., Majamaa, K. (2005) A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects European Journal of Human Genetics . 13 (2): 166-170 .
6 16773565 2006 Saxena, R., de Bakker, P. I., Singer, K., Mootha, V., Burtt, N., Hirschhorn, J. N., Gaudet, D., Isomaa, B., Daly, M. J., Groop, L., Ardlie, K. G., Altshuler, D. (2006) Comprehensive association testing of common mitochondrial DNA variation in metabolic disease American Journal of Human Genetics . 79 (1): 54-61 .
7 16895436 2006 Kazuno, A. A., Munakata, K., Nagai, T., Shimozono, S., Tanaka, M., Yoneda, M., Kato, N., Miyawaki, A., Kato, T. (2006) Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics PLoS Genetics . 2 (8): e128 .
8 15975594 2005 Huerta, C., Castro, M. G., Coto, E., Blazquez, M., Ribacoba, R., Guisasola, L. M., Salvador, C., Martinez, C., Lahoz, C. H., Alvarez, V. (2005) Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population Journal of the Neurological Sciences . 236 (40545): 49-54 .
9 17510395 2007 Bai, R. K., Leal, S. M., Covarrubias, D., Liu, A., Wong, L. J. (2007) Mitochondrial genetic background modifies breast cancer risk Cancer Research . 67 (10): 4687-4694 .
10 18679013 2008 Liao, W. Q., Pang, Y., Yu, C. A., Wen, J. Y., Zhang, Y. G., Li, X. H. (2008) Novel mutations of mitochondrial DNA associated with type 2 diabetes in Chinese Han population The Tohoku Journal of Experimental Medicine . 215 (4): 377-384 .
11 23111160 2013 Hao, X. D., Yang, Y. L., Tang, N. L., Kong, Q. P., Wu, S. F., Zhang, Y. P. (2013) Mitochondrial DNA haplogroup Y is associated to Leigh syndrome in Chinese population Gene . 512 (2): 460-463 .
12 25199876 2014 Salas, A., Garcia-Magarinos, M., Logan, I., Bandelt, H. J. (2014) The saga of the many studies wrongly associating mitochondrial DNA with breast cancer BMC Cancer . 14 (): 659 .
13 28648514 2017 Monte, T. L., Pereira, F. S., Reckziegel, E. D. R., Augustin, M. C., Locks-Coelho, L. D., Santos, A. S. P., Pedroso, J. L., Barsottini, O., Vargas, F. R., Saraiva-Pereira, M. L., Jardim, L. B., Rede, N. (2017) Neurological phenotypes in spinocerebellar ataxia type 2: Role of mitochondrial polymorphism A10398G and other risk factors Parkinsonism and Related Disorders . 42 (): 54-60 .
14 17620498 2007 Simon, D. K., Zheng, K., Velazquez, L., Santos, N., Almaguer, L., Figueroa, K. P., Pulst, S. M. (2007) Mitochondrial complex I gene variant associated with early age at onset in spinocerebellar ataxia type 2 Archives of Neurology . 64 (7): 1042-1044 .
15 34045735 2021 Kopinski, P. K., Singh, L. N., Zhang, S., Lott, M. T., Wallace, D. C. (2021) Mitochondrial DNA variation and cancer Nature Reviews. Cancer Epub ahead of print, https://doi.org/10.1038/s41568-021-00358-w (): .
16 12670626 2003 Ross, O. A., McCormack, R., Maxwell, L. D., Duguid, R. A., Quinn, D. J., Barnett, Y. A., Rea, I. M., El-Agnaf, O. M., Gibson, J. M., Wallace, A., Middleton, D., Curran, M. D. (2003) mt4216C variant in linkage with the mtDNA TJ cluster may confer a susceptibility to mitochondrial dysfunction resulting in an increased risk of Parkinson's disease in the Irish Experimental Gerontology . 38 (4): 397-405 .
17 17701054 2007 Rai, E., Sharma, S., Koul, A., Bhat, A. K., Bhanwer, A. J., Bamezai, R. N. (2007) Interaction between the UCP2-866G/A, mtDNA 10398G/A and PGC1alpha p.Thr394Thr and p.Gly482Ser polymorphisms in type 2 diabetes susceptibility in North Indian population Human Genetics . 122 (5): 535-540 .
18 17288645 2008 Kazuno, A. A., Munakata, K., Kato, N., Kato, T. (2008) Mitochondrial DNA-dependent effects of valproate on mitochondrial calcium levels in transmitochondrial cybrids The International Journal of Neuropsychopharmacology . 11 (1): 71-78 .
19 18262047 2008 Setiawan, V. W., Chu, L. H., John, E. M., Ding, Y. C., Ingles, S. A., Bernstein, L., Press, M. F., Ursin, G., Haiman, C. A., Neuhausen, S. L. (2008) Mitochondrial DNA G10398A variant is not associated with breast cancer in African-American women Cancer Genetics and Cytogenetics . 181 (1): 16-19 .
20 18286226 2008 Latsoudis, H., Spanaki, C., Chlouverakis, G., Plaitakis, A. (2008) Mitochondrial DNA polymorphisms and haplogroups in Parkinson's disease and control individuals with a similar genetic background Journal of Human Genetics . 53 (4): 349-356 .
21 18226984 2008 Kazuno, A. A., Munakata, K., Tanaka, M., Kato, N., Kato, T. (2008) Relationships between mitochondrial DNA subhaplogroups and intracellular calcium dynamics Mitochondrion . 8 (2): 164-169 .
22 18177933 2008 Kato, T. (2008) Role of mitochondrial DNA in calcium signaling abnormality in bipolar disorder Cell Calcium . 44 (1): 92-102 .
23 20067846 2010 Juo, S. H., Lu, M. Y., Bai, R. K., Liao, Y. C., Trieu, R. B., Yu, M. L., Wong, L. J. (2010) A common mitochondrial polymorphism 10398A>G is associated metabolic syndrome in a Chinese population Mitochondrion . 10 (3): 294-299 .
24 19390621 2009 Pezzotti, A., Kraft, P., Hankinson, S. E., Hunter, D. J., Buring, J., Cox, D. G. (2009) The mitochondrial A10398G polymorphism, interaction with alcohol consumption, and breast cancer risk PLoS One . 4 (4): e5356 .
25 15488317 2004 Otaegui, D., Paisan, C., Saenz, A., Marti, I., Ribate, M., Marti-Masso, J. F., Perez-Tur, J., Lopez de Munain, A. (2004) Mitochondrial polymporphisms in Parkinson's Disease Neuroscience Letters . 370 (40577): 171-174 .
26 17627010 2007 Wang, L., Bamlet, W. R., de Andrade, M., Boardman, L. A., Cunningham, J. M., Thibodeau, S. N., Petersen, G. M. (2007) Mitochondrial genetic polymorphisms and pancreatic cancer risk Cancer Epidemiology, Biomarkers and Prevention . 16 (7): 1455-1459 .
27 17886251 2007 Datta, S., Majumder, M., Biswas, N. K., Sikdar, N., Roy, B. (2007) Increased risk of oral cancer in relation to common Indian mitochondrial polymorphisms and Autosomal GSTP1 locus Cancer . 110 (9): 1991-1999 .
28 20043118 2010 Czarnecka, A. M., Klemba, A., Krawczyk, T., Zdrozny, M., Arnold, R. S., Bartnik, E., Petros, J. A. (2010) Mitochondrial NADH-dehydrogenase polymorphisms as sporadic breast cancer risk factor Oncology Reports . 23 (2): 531-535 .
29 18709563 2008 Covarrubias, D., Bai, R. K., Wong, L. J., Leal, S. M. (2008) Mitochondrial DNA variant interactions modify breast cancer risk Journal of Human Genetics . 53 (10): 924-928 .
30 21457906 2011 Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 .
31 17174475 2007 Huerta, C., Sanchez-Ferrero, E., Coto, E., Blazquez, M., Ribacoba, R., Guisasola, L. M., Salvador, C., Alvarez, V. (2007) No association between Parkinson's disease and three polymorphisms in the eNOS, nNOS, and iNOS genes Neuroscience Letters . 413 (3): 202-205 .
32 27217714 2016 Collins, D. W., Gudiseva, H. V., Trachtman, B., Bowman, A. S., Sagaser, A., Sankar, P., Miller-Ellis, E., Lehman, A., Addis, V., O'Brien, J. M. (2016) Association of primary open-angle glaucoma with mitochondrial variants and haplogroups common in African Americans Molecular Vision . 22 (): 454-471 .
33 28793231 2017 Hwang, I. W., Hong, J. H., Kwon, B. N., Kim, H. J., Lee, N. R., Lim, M. H., Kwon, H. J., Jin, H. J. (2017) Association of mitochondrial DNA 10398 A/G polymorphism with attention deficit and hyperactivity disorder in Korean children Gene . 630 (): 8-12 .
34 29987491 2018 O'Keefe, H., Queen, R. A., Meldau, S., Lord, P., Elson, J. L. (2018) Haplogroup context is less important in the penetrance of mitochondrial DNA complex I mutations compared to mt-tRNA mutations Journal of Molecular Evolution . 86 (6): 395-403 .
35 31797714 2019 Jahani, M. M., Azimi Meibody, A., Karimi, T., Banoei, M. M., Houshmand, M. (2019) An A10398G mitochondrial DNA alteration is related to increased risk of breast cancer, and associates with Her2 positive receptor Mitochondrial DNA. Part A, DNA Mapping, Sequencing, and Analysis . (): 1-6 .
36 24917144 2014 Li, Y. J., Minear, M. A., Qin, X., Rimmler, J., Hauser, M. A., Allingham, R. R., Igo, R. P., Lass, J. H., Iyengar, S. K., Klintworth, G. K., Afshari, N. A., Gregory, S. G., Consortium, F. G. (2014) Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy Investigative Ophthalmology and Visual Science . 55 (7): 4577-4584 .
37 31358833 2019 Sharma, S., Singh, S., Gupta, R. K., Ganju, L., Singh, S. B., Kumar, B., Singh, Y. (2019) Mitochondrial DNA sequencing reveals association of variants and haplogroup M33a2'3 with high altitude pulmonary edema susceptibility in Indian male lowlanders Scientific Reports . 9 (1): 10975 .
38 34120353 2021 Dahadhah, F. W., Saleh Jaweesh, M., Al Zoubi, M. S., Issam Abu Alarjah, M., Hammadeh, M. E., Amor, H. (2021) Lack of association between single polymorphic variants of the mitochondrial nicotinamide adenine dinucleotide dehydrogenase 3, and 4L (MT-ND3 and MT-ND4L) and male infertility Andrologia . 53 (8): e14139 .
39 35146807 2022 Tzeng, I. S. (2022) Role of mitochondria DNA A10398G polymorphism on development of Parkinson's disease: A PRISMA-compliant meta-analysis Journal of Clinical Laboratory Analysis . 36 (3): e24274 .