TY - JOUR
T1 - Association of TMEM106B rs1990622 marker and frontotemporal dementia
T2 - Evidence for a recessive effect and meta-analysis
AU - Hernández, Isabel
AU - Rosende-Roca, Maitée
AU - Alegret, Montserrat
AU - Mauleón, Ana
AU - Espinosa, Ana
AU - Vargas, Liliana
AU - Sotolongo-Grau, Oscar
AU - Tárraga, Lluís
AU - Boada, Mercè
AU - Ruiz, Agustín
N1 - Publisher Copyright:
© 2015 IOS Press and the authors. All rights reserved.
PY - 2014
Y1 - 2014
N2 - Transmembrane Protein 106B SNP rs1990622 was recently shown to modify the risk of frontotemporal lobar degeneration with TDP-43 inclusions (FTD-TDP). An independent replication study of this genetic variant was performed in 381 individuals from Catalonia (Spain). By applying a recessive model, a tendency toward an association with FTD risk was observed in our case-control study (age- and gender-adjusted odds ratio = 0.57; p = 0.082). Importantly, meta-analysis of available studies also supports a recessive effect for rs1990622 CC genotype (OR = 0.70; CI 95% [0.57-0.85]; p = 0.0003) and demonstrates the existence of statistical heterogeneity due to an inherent pathological heterogeneity between series (p = 0.00014). We conclude that TMEM106B is associated with FTD, although the extent of this effect is difficult to be estimated by using clinical FTD series.
AB - Transmembrane Protein 106B SNP rs1990622 was recently shown to modify the risk of frontotemporal lobar degeneration with TDP-43 inclusions (FTD-TDP). An independent replication study of this genetic variant was performed in 381 individuals from Catalonia (Spain). By applying a recessive model, a tendency toward an association with FTD risk was observed in our case-control study (age- and gender-adjusted odds ratio = 0.57; p = 0.082). Importantly, meta-analysis of available studies also supports a recessive effect for rs1990622 CC genotype (OR = 0.70; CI 95% [0.57-0.85]; p = 0.0003) and demonstrates the existence of statistical heterogeneity due to an inherent pathological heterogeneity between series (p = 0.00014). We conclude that TMEM106B is associated with FTD, although the extent of this effect is difficult to be estimated by using clinical FTD series.
KW - Frontotemporal dementia
KW - genetics
KW - genome-wide association study
KW - molecular epidemiology
KW - TMEM106B
UR - https://www.scopus.com/pages/publications/84908700162
UR - https://www.scopus.com/inward/citedby.url?scp=84908700162&partnerID=8YFLogxK
U2 - 10.3233/JAD-132432
DO - 10.3233/JAD-132432
M3 - Article
C2 - 25096617
AN - SCOPUS:84908700162
SN - 1387-2877
VL - 43
SP - 325
EP - 334
JO - Journal of Alzheimer's Disease
JF - Journal of Alzheimer's Disease
IS - 1
ER -