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Family-based association analysis of the MAPT gene in Parkinson disease

100%

Wang K. S., Mullersman J. E., Liu X. F.

Journal of Applied Genetics

2010

vol. 51

issue 4

509-514

The MAPT gene has been shown to be associated with several neurodegenerative disorders, including forms of parkinsonism and Parkinson disease (PD), but the results reveal population differences. We investigated the association of 10 single-nucleotide polymorphisms (SNPs) in the region of MAPT on chromosome 17q21 with PD and age at onset, by using 443 discordant sib pairs in PD from a public dataset (Mayo-Perlegen LEAPS Collaboration). Association with PD was assessed by the FBAT using generalized estimating equations (FBAT-GEE), while the association with age at onset as a quantitative trait was evaluated using the FBAT-logrank statistic. Five SNPs were significantly associated with PD (P < 0.05) in an additive model, and 9 SNPs were associated with PD (P < 0.05) in dominant and recessive models. Interestingly, 8 PD-associated SNPs were also associated with age at onset of PD (P < 0.05) in dominant and recessive models. The SNP most significantly associated with PD and age at onset was rs17649641 (P = 0.015 and 0.021, respectively). Two-SNP haplotypes inferred from rs17563965 and rs17649641 also showed association with PD (P = 0.018) and age at onset (P = 0.026). These results provide further support for the role of MAPT in development of PD.

Calcium signaling in the brain

88%

Heizmann C. W.

Acta Neurobiologiae Experimentalis

1993

vol. 53

issue 1

15-23

Calcium ions regulate many processes in the central nervous system via interaction with intracellular calcium-binding proteins. One class of these proteins shares a common structural motif, the EF-hand. A consensus amino acid sequence for this motif has aided the identification of many new members of this family. Some of these proteins, like parvalbumin, calbindin, and calretinin, proved to be useful neuronal markers for a variety of functional brain systems and their circuitries. Their major role is assumed to be buffering, transport of Ca?+, and regulation of various enzyme systems. Cellular degeneration is often accompanied by Ca?+ overload. It has been assumed that neurons containing certain intracellular Ca?+ - binding proteins may have a greater capacity tu buffer Ca?+ and therefore would be more resistant to degeneration.

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1 Acta Neurobiologiae Experimentalis

1 Journal of Applied Genetics

1 2010

1 1993

1 Heizmann C. W.

1 Liu X. F.

1 Mullersman J. E.

1 Wang K. S.

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Family-based association analysis of the MAPT gene in Parkinson disease

Calcium signaling in the brain