| Id |
Subject |
Object |
Predicate |
Lexical cue |
| TextSentencer_T1 |
0-77 |
Sentence |
denotes |
TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. |
| T1 |
0-77 |
Sentence |
denotes |
TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. |
| TextSentencer_T2 |
78-235 |
Sentence |
denotes |
Variants in transmembrane protein 106 B (TMEM106B) modify the disease penetrance of frontotemporal dementia (FTD) in carriers of progranulin (GRN) mutations. |
| T2 |
78-235 |
Sentence |
denotes |
Variants in transmembrane protein 106 B (TMEM106B) modify the disease penetrance of frontotemporal dementia (FTD) in carriers of progranulin (GRN) mutations. |
| TextSentencer_T3 |
236-378 |
Sentence |
denotes |
We investigated whether TMEM106B is also a genetic modifier of disease in carriers of chromosome 9 open reading frame 72 (C9ORF72) expansions. |
| T3 |
236-378 |
Sentence |
denotes |
We investigated whether TMEM106B is also a genetic modifier of disease in carriers of chromosome 9 open reading frame 72 (C9ORF72) expansions. |
| TextSentencer_T4 |
379-679 |
Sentence |
denotes |
We assessed the genotype of 325 C9ORF72 expansion carriers (cohort 1), 586 FTD patients lacking C9ORF72 expansions [with or without motor neuron disease (MND); cohort 2], and a total of 1,302 controls for TMEM106B variants (rs3173615 and rs1990622) using MassArray iPLEX and Taqman genotyping assays. |
| T4 |
379-679 |
Sentence |
denotes |
We assessed the genotype of 325 C9ORF72 expansion carriers (cohort 1), 586 FTD patients lacking C9ORF72 expansions [with or without motor neuron disease (MND); cohort 2], and a total of 1,302 controls for TMEM106B variants (rs3173615 and rs1990622) using MassArray iPLEX and Taqman genotyping assays. |
| TextSentencer_T5 |
680-791 |
Sentence |
denotes |
For our primary analysis, we focused on functional variant rs3173615, and employed a recessive genotypic model. |
| T5 |
680-791 |
Sentence |
denotes |
For our primary analysis, we focused on functional variant rs3173615, and employed a recessive genotypic model. |
| TextSentencer_T6 |
792-1043 |
Sentence |
denotes |
In cohort 1, patients with C9ORF72 expansions showed a significantly reduced frequency of carriers homozygous for the minor allele as compared to controls [11.9 vs. 19.1 %, odds ratio (OR) 0.57, p = 0.014; same direction as carriers of GRN mutations]. |
| T6 |
792-1043 |
Sentence |
denotes |
In cohort 1, patients with C9ORF72 expansions showed a significantly reduced frequency of carriers homozygous for the minor allele as compared to controls [11.9 vs. 19.1 %, odds ratio (OR) 0.57, p = 0.014; same direction as carriers of GRN mutations]. |
| TextSentencer_T7 |
1044-1251 |
Sentence |
denotes |
The strongest evidence was provided by FTD patients (OR 0.33, p = 0.009) followed by FTD/MND patients (OR 0.38, p = 0.017), whereas no significant difference was observed in MND patients (OR 0.85, p = 0.55). |
| T7 |
1044-1251 |
Sentence |
denotes |
The strongest evidence was provided by FTD patients (OR 0.33, p = 0.009) followed by FTD/MND patients (OR 0.38, p = 0.017), whereas no significant difference was observed in MND patients (OR 0.85, p = 0.55). |
| TextSentencer_T8 |
1252-1601 |
Sentence |
denotes |
In cohort 2, the frequency of carriers homozygous for the minor allele was not significantly reduced in patients as compared to controls (OR 0.77, p = 0.079); however, a significant reduction was observed when focusing on those patients with frontotemporal lobar degeneration and TAR DNA-binding protein 43 inclusions (FTLD-TDP; OR 0.26, p < 0.001). |
| T8 |
1252-1601 |
Sentence |
denotes |
In cohort 2, the frequency of carriers homozygous for the minor allele was not significantly reduced in patients as compared to controls (OR 0.77, p = 0.079); however, a significant reduction was observed when focusing on those patients with frontotemporal lobar degeneration and TAR DNA-binding protein 43 inclusions (FTLD-TDP; OR 0.26, p < 0.001). |
| TextSentencer_T9 |
1602-1721 |
Sentence |
denotes |
Our study identifies TMEM106B as the first genetic factor modifying disease presentation in C9ORF72 expansion carriers. |
| T9 |
1602-1721 |
Sentence |
denotes |
Our study identifies TMEM106B as the first genetic factor modifying disease presentation in C9ORF72 expansion carriers. |
| TextSentencer_T10 |
1722-1902 |
Sentence |
denotes |
Homozygosity for the minor allele protects carriers from developing FTD, but not from developing MND; similar effects are seen in FTLD-TDP patients with yet unknown genetic causes. |
| T10 |
1722-1902 |
Sentence |
denotes |
Homozygosity for the minor allele protects carriers from developing FTD, but not from developing MND; similar effects are seen in FTLD-TDP patients with yet unknown genetic causes. |
| TextSentencer_T11 |
1903-2133 |
Sentence |
denotes |
These new findings show that the protective effects of TMEM106B are not confined to carriers of GRN mutations and might be relevant for prognostic testing, and as a promising therapeutic target for the entire spectrum of FTLD-TDP. |
| T11 |
1903-2133 |
Sentence |
denotes |
These new findings show that the protective effects of TMEM106B are not confined to carriers of GRN mutations and might be relevant for prognostic testing, and as a promising therapeutic target for the entire spectrum of FTLD-TDP. |
