5′-upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration

Carlos Cruchaga; Jose M. Vidal-Taboada; Mario Ezquerra; Elena Lorenzo; Pablo Martinez-Lage; Marta Blazquez; Eduardo Tolosa; Pau Pastor; Carles Gaig; Maria Jose Marti; Jose Luis Molinuevo; Francesc Valldeoriola; Jaume Campdelacreu; Joseph C. Masdeuf; Rosario Luquín; Jose A. Obesof; Maria A. Pastor; Mario Riverol; Maria C. Rodriguezf; Pablo Villoslada; Teresa Tuñon; Cecilia Huerta; Victoria Alvarez; Matilde Calopa; Elena Erro; Ana Rojo; Javier Ruiz

doi:10.1016/j.nbd.2008.09.027

5′-upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration

Carlos Cruchaga, Jose M. Vidal-Taboada, Mario Ezquerra, Elena Lorenzo, Pablo Martinez-Lage, Marta Blazquez, Eduardo Tolosa, Pau Pastor, Carles Gaig, Maria Jose Marti, Jose Luis Molinuevo, Francesc Valldeoriola, Jaume Campdelacreu, Joseph C. Masdeuf, Rosario Luquín, Jose A. Obesof, Maria A. Pastor, Mario Riverol, Maria C. Rodriguezf, Pablo VillosladaTeresa Tuñon, Cecilia Huerta, Victoria Alvarez, Matilde Calopa, Elena Erro, Ana Rojo, Javier Ruiz

Research output: Contribution to journal › Article

25 Scopus citations

Abstract

Two different H1 sub-haplotypes at chromosome 17q21, H1C and H1E′A, have been associated with progressive supranuclear palsy (PSP) and cortical basal degeneration (CBD). We analyzed the SNPs included in the H1C and H1E′A haplotypes in a large Spanish PSP/CBD series and their interaction with age at onset (AAO). Survival analysis of rs1880753 marker was consistently associated with disease risk and with an earlier age at onset under an additive model. Its location at 160 kb and 50 kb upstream of tau and CRHR1 genes, respectively, suggests that it might act as a cis-element that regulates gene expression. Rs45502095^H1was also associated with AAO under a recessive model. Haplotype analysis failed to replicate the association of H1C and H1E′A haplotypes with PSP/CBD. However, we found a strong association of two H1 sub-haplotypes with PSP and CBD (H1E′C and H1Q), which include MAPT and CRHR1 genes where the risk variant for PSP/CBD could lie.

Original language	English
Pages (from-to)	164-170
Number of pages	7
Journal	Neurobiology of Disease
Volume	33
Issue number	2
DOIs	https://doi.org/10.1016/j.nbd.2008.09.027
State	Published - Feb 1 2009
Externally published	Yes

Keywords

Age at onset
Cortical basal degeneration
Haplotype
Microtubule-associated protein tau
Progressive supranuclear palsy

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Cruchaga, C., Vidal-Taboada, J. M., Ezquerra, M., Lorenzo, E., Martinez-Lage, P., Blazquez, M., Tolosa, E., Pastor, P., Gaig, C., Marti, M. J., Molinuevo, J. L., Valldeoriola, F., Campdelacreu, J., Masdeuf, J. C., Luquín, R., Obesof, J. A., Pastor, M. A., Riverol, M., Rodriguezf, M. C., ... Ruiz, J. (2009). 5′-upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration. Neurobiology of Disease, 33(2), 164-170. https://doi.org/10.1016/j.nbd.2008.09.027

Cruchaga, Carlos ; Vidal-Taboada, Jose M. ; Ezquerra, Mario ; Lorenzo, Elena ; Martinez-Lage, Pablo ; Blazquez, Marta ; Tolosa, Eduardo ; Pastor, Pau ; Gaig, Carles ; Marti, Maria Jose ; Molinuevo, Jose Luis ; Valldeoriola, Francesc ; Campdelacreu, Jaume ; Masdeuf, Joseph C. ; Luquín, Rosario ; Obesof, Jose A. ; Pastor, Maria A. ; Riverol, Mario ; Rodriguezf, Maria C. ; Villoslada, Pablo ; Tuñon, Teresa ; Huerta, Cecilia ; Alvarez, Victoria ; Calopa, Matilde ; Erro, Elena ; Rojo, Ana ; Ruiz, Javier. / 5′-upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration. In: Neurobiology of Disease. 2009 ; Vol. 33, No. 2. pp. 164-170.

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title = "5′-upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration",

abstract = "Two different H1 sub-haplotypes at chromosome 17q21, H1C and H1E′A, have been associated with progressive supranuclear palsy (PSP) and cortical basal degeneration (CBD). We analyzed the SNPs included in the H1C and H1E′A haplotypes in a large Spanish PSP/CBD series and their interaction with age at onset (AAO). Survival analysis of rs1880753 marker was consistently associated with disease risk and with an earlier age at onset under an additive model. Its location at 160 kb and 50 kb upstream of tau and CRHR1 genes, respectively, suggests that it might act as a cis-element that regulates gene expression. Rs45502095H1was also associated with AAO under a recessive model. Haplotype analysis failed to replicate the association of H1C and H1E′A haplotypes with PSP/CBD. However, we found a strong association of two H1 sub-haplotypes with PSP and CBD (H1E′C and H1Q), which include MAPT and CRHR1 genes where the risk variant for PSP/CBD could lie.",

keywords = "Age at onset, Cortical basal degeneration, Haplotype, Microtubule-associated protein tau, Progressive supranuclear palsy",

author = "Carlos Cruchaga and Vidal-Taboada, {Jose M.} and Mario Ezquerra and Elena Lorenzo and Pablo Martinez-Lage and Marta Blazquez and Eduardo Tolosa and Pau Pastor and Carles Gaig and Marti, {Maria Jose} and Molinuevo, {Jose Luis} and Francesc Valldeoriola and Jaume Campdelacreu and Masdeuf, {Joseph C.} and Rosario Luqu{\'i}n and Obesof, {Jose A.} and Pastor, {Maria A.} and Mario Riverol and Rodriguezf, {Maria C.} and Pablo Villoslada and Teresa Tu{\~n}on and Cecilia Huerta and Victoria Alvarez and Matilde Calopa and Elena Erro and Ana Rojo and Javier Ruiz",

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Cruchaga, C, Vidal-Taboada, JM, Ezquerra, M, Lorenzo, E, Martinez-Lage, P, Blazquez, M, Tolosa, E, Pastor, P, Gaig, C, Marti, MJ, Molinuevo, JL, Valldeoriola, F, Campdelacreu, J, Masdeuf, JC, Luquín, R, Obesof, JA, Pastor, MA, Riverol, M, Rodriguezf, MC, Villoslada, P, Tuñon, T, Huerta, C, Alvarez, V, Calopa, M, Erro, E, Rojo, A & Ruiz, J 2009, '5′-upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration', Neurobiology of Disease, vol. 33, no. 2, pp. 164-170. https://doi.org/10.1016/j.nbd.2008.09.027

5′-upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration. / Cruchaga, Carlos; Vidal-Taboada, Jose M.; Ezquerra, Mario; Lorenzo, Elena; Martinez-Lage, Pablo; Blazquez, Marta; Tolosa, Eduardo; Pastor, Pau; Gaig, Carles; Marti, Maria Jose; Molinuevo, Jose Luis; Valldeoriola, Francesc; Campdelacreu, Jaume; Masdeuf, Joseph C.; Luquín, Rosario; Obesof, Jose A.; Pastor, Maria A.; Riverol, Mario; Rodriguezf, Maria C.; Villoslada, Pablo; Tuñon, Teresa; Huerta, Cecilia; Alvarez, Victoria; Calopa, Matilde; Erro, Elena; Rojo, Ana; Ruiz, Javier.

In: Neurobiology of Disease, Vol. 33, No. 2, 01.02.2009, p. 164-170.

Research output: Contribution to journal › Article

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T1 - 5′-upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration

AU - Cruchaga, Carlos

AU - Vidal-Taboada, Jose M.

AU - Ezquerra, Mario

AU - Lorenzo, Elena

AU - Martinez-Lage, Pablo

AU - Blazquez, Marta

AU - Tolosa, Eduardo

AU - Pastor, Pau

AU - Gaig, Carles

AU - Marti, Maria Jose

AU - Molinuevo, Jose Luis

AU - Valldeoriola, Francesc

AU - Campdelacreu, Jaume

AU - Masdeuf, Joseph C.

AU - Luquín, Rosario

AU - Obesof, Jose A.

AU - Pastor, Maria A.

AU - Riverol, Mario

AU - Rodriguezf, Maria C.

AU - Villoslada, Pablo

AU - Tuñon, Teresa

AU - Huerta, Cecilia

AU - Alvarez, Victoria

AU - Calopa, Matilde

AU - Erro, Elena

AU - Rojo, Ana

AU - Ruiz, Javier

PY - 2009/2/1

Y1 - 2009/2/1

N2 - Two different H1 sub-haplotypes at chromosome 17q21, H1C and H1E′A, have been associated with progressive supranuclear palsy (PSP) and cortical basal degeneration (CBD). We analyzed the SNPs included in the H1C and H1E′A haplotypes in a large Spanish PSP/CBD series and their interaction with age at onset (AAO). Survival analysis of rs1880753 marker was consistently associated with disease risk and with an earlier age at onset under an additive model. Its location at 160 kb and 50 kb upstream of tau and CRHR1 genes, respectively, suggests that it might act as a cis-element that regulates gene expression. Rs45502095H1was also associated with AAO under a recessive model. Haplotype analysis failed to replicate the association of H1C and H1E′A haplotypes with PSP/CBD. However, we found a strong association of two H1 sub-haplotypes with PSP and CBD (H1E′C and H1Q), which include MAPT and CRHR1 genes where the risk variant for PSP/CBD could lie.

AB - Two different H1 sub-haplotypes at chromosome 17q21, H1C and H1E′A, have been associated with progressive supranuclear palsy (PSP) and cortical basal degeneration (CBD). We analyzed the SNPs included in the H1C and H1E′A haplotypes in a large Spanish PSP/CBD series and their interaction with age at onset (AAO). Survival analysis of rs1880753 marker was consistently associated with disease risk and with an earlier age at onset under an additive model. Its location at 160 kb and 50 kb upstream of tau and CRHR1 genes, respectively, suggests that it might act as a cis-element that regulates gene expression. Rs45502095H1was also associated with AAO under a recessive model. Haplotype analysis failed to replicate the association of H1C and H1E′A haplotypes with PSP/CBD. However, we found a strong association of two H1 sub-haplotypes with PSP and CBD (H1E′C and H1Q), which include MAPT and CRHR1 genes where the risk variant for PSP/CBD could lie.

KW - Age at onset

KW - Cortical basal degeneration

KW - Haplotype

KW - Microtubule-associated protein tau

KW - Progressive supranuclear palsy

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DO - 10.1016/j.nbd.2008.09.027

M3 - Article

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JO - Neurobiology of Disease

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