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Nrf2-encoding NFE2L2 haplotypes influence disease progression but not risk in Alzheimer's disease and age-related cataract.

Malin von Otter ; Sara Landgren ; Staffan Nilsson (Institutionen för matematiska vetenskaper, matematisk statistik) ; Madeleine Zetterberg ; Dragana Celojevic ; Petra Bergström ; Lennart Minthon ; Nenad Bogdanovic ; Niels Andreasen ; Deborah Gustafson ; Ingmar Skoog ; Anders Wallin ; Gunnar Tasa ; Kaj Blennow ; Michael Nilsson ; Ola Hammarsten ; Henrik Zetterberg
Mechanisms of ageing and development (1872-6216). Vol. 131 (2010), 2, p. 105-110.
[Artikel, refereegranskad vetenskaplig]

Alzheimer's disease (AD) and age-related cataract, disorders characterized by protein aggregation causing late-onset disease, both involve oxidative stress. We hypothesize that common variants of NFE2L2 and KEAP1, the genes encoding the main regulators of the Nrf2 system, an important defence system against oxidative stress, may influence risk of AD and/or age-related cataract. This case-control study combines an AD material (725 cases and 845 controls), and a cataract material (489 cases and 182 controls). Genetic variation in NFE2L2 and KEAP1 was tagged by eight and three tag single nucleotide polymorphisms (SNPs), respectively. Single SNPs and haplotypes were analyzed for associations with disease risk, age parameters, MMSE and AD cerebrospinal fluid biomarkers. NFE2L2 and KEAP1 were not associated with risk of AD or cataract. However, one haplotype allele of NFE2L2 was associated with 2 years earlier age at AD onset (p(c)=0.013) and 4 years earlier age at surgery for posterior subcapsular cataract (p(c)=0.019). Another haplotype of NFE2L2 was associated with 4 years later age at surgery for cortical cataract (p(c)=0.009). Our findings do not support NFE2L2 or KEAP1 as susceptibility genes for AD or cataract. However, common variants of the NFE2L2 gene may affect disease progression, potentially altering clinically recognized disease onset.

Denna post skapades 2010-01-19. Senast ändrad 2015-01-16.
CPL Pubid: 108883


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Institutioner (Chalmers)

Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi (GU)
Institutionen för neurovetenskap och fysiologi, sektionen för farmakologi (GU)
Institutionen för matematiska vetenskaper, matematisk statistik (2005-2016)
Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap och rehabilitering (2006-2016)
Institutionen för biomedicin (GU)
Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin (GU)



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