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. Author manuscript; available in PMC: 2017 Sep 1.
Published in final edited form as: Parkinsonism Relat Disord. 2016 Jun 16;30:40–45. doi: 10.1016/j.parkreldis.2016.06.010

Table 3.

Association of MAPT haplotype with risk of MSA

Pathologically confirmed MSA patients
vs. controls		 Clinically diagnosed MSA
patients vs. controls		 All MSA patients
vs. controls
Haplotype Sequence Freq. in
controls
(%)
(N=1312)		 Freq. in
patients
(%)
(N=127)		 P OR (95% CI) vs. H1C Freq. in
patients (%)
(N=86)		 P OR (95% CI) vs. H1C Freq. in
patients
(%)
(N=213)		 P OR (95% CI) vs.
H1C
H1C AAGTAG 11.3 12.3 0.35 1.00 (reference) 8.9 0.39 1.00 (reference) 10.4 0.87 1.00 (reference)
H2 AGGCGG 22.7 16.2 0.024 0.65 (0.39, 1.08) 26.1 0.32 1.39 (0.73, 2.64) 20.2 0.27 0.91 (0.61, 1.36)
H1B GGGCAA 16.0 16.5 0.88 0.90 (0.54, 1.51) 10.7 0.051 0.81 (0.38, 1.73) 14.1 0.19 0.88 (0.57, 1.37)
H1E AGGCAA 9.0 3.0 0.014 0.34 (0.14, 0.84) 12.6 0.11 1.71 (0.81, 3.62) 7.2 0.47 0.86 (0.50, 1.46)
H1D AAGCAA 7.1 9.3 0.61 1.17 (0.60, 2.27) 8.9 0.19 1.45 (0.65, 3.24) 8.7 0.25 1.24 (0.73, 2.10)
H1I GAGCAA 4.4 4.3 0.85 0.77 (0.31, 1.92) 5.6 0.54 1.52 (0.54, 4.26) 5.0 0.61 1.04 (0.52, 2.10)
H1H AGACAA 4.1 5.5 0.37 1.14 (0.52, 2.52) 4.1 0.81 1.18 (0.40, 3.45) 4.8 0.63 1.18 (0.61, 2.28)
H1L AGACAG 3.0 5.0 0.079 1.51 (0.72, 3.18) 0.9 0.12 0.30 (0.04, 2.32) 3.3 0.73 1.10 (0.54, 2.24)
H1M GAGCAG 2.9 2.0 0.89 0.83 (0.30, 2.28) 1.1 0.29 0.53 (0.10, 2.91) 1.5 0.46 0.73 (0.30, 1.79)
H1U AAGCAG 2.4 2.6 0.48 1.04 (0.36, 3.03) 5.5 0.013 2.80 (1.01, 7.79) 4.2 0.049 1.67 (0.82, 3.38)
H1O AAACAA 2.3 3.3 0.29 1.14 (0.40, 3.21) 4.0 0.44 1.69 (0.53, 5.33) 3.7 0.20 1.36 (0.61, 3.02)
H1y AAATAG 1.6 2.1 0.21 1.21 (0.35, 4.19) 0 0.37 N/A1 1.7 0.67 0.94 (0.29, 3.11)
H1P GGGTAG 1.5 0.5 0.30 0.32 (0.04, 2.56) 0 0.18 N/A1 0.3 0.10 0.23 (0.03, 1.80)
H1x GAATAG 1.3 3.7 0.030 2.10 (0.76, 5.82) 2.6 0.48 2.31 (0.60, 8.89) 3.2 0.049 2.25 (0.95, 5.29)
H1F GGACAA 1.2 1.8 0.27 1.60 (0.46, 5.56) 0 0.2 N/A1 1.1 0.95 0.98 (0.27, 3.52)
H1v GGATAG 1.2 1.7 0.65 0.50 (0.08, 3.28) 0 0.18 N/A1 0.4 0.23 0.34 (0.05, 2.39)
H1R AGGTAG 1.1 1.6 0.90 1.10 (0.20, 6.00) 1.4 0.91 1.64 (0.32, 8.29) 1.7 0.83 1.37 (0.40, 4.66)
H1G GAACAA 1.1 0 0.80 N/A1 0 0.95 N/A1 0 0.84 N/A1
H1Q AAGTAA 1.0 1.9 0.35 1.52 (0.47, 4.97) 0.6 0.58 0.78 (0.09, 6.52) 1.3 0.72 1.26 (0.44, 3.61)
H1J AGGCAG 0.9 3.0 0.021 3.88 (1.26, 11.91) 0 0.64 N/A1 1.7 0.17 2.29 (0.74, 7.08)
H1S GGGCAG 0.9 0.5 0.84 N/A1 1.3 0.93 2.04 (0.40, 10.40) 0.8 0.93 0.82 (0.14, 4.84)
H1z GAGTAG 0.8 1.6 0.55 1.33 (0.27, 6.53) 2.1 0.45 4.03 (0.76, 21.39) 1.9 0.37 1.94 (0.55, 6.85)
H1N GGACAG 0.6 1.2 0.14 2.34 (0.51, 10.77) 0.3 0.49 N/A1 0.7 0.74 1.53 (0.28, 8.48)
H1K AAACAG 0.5 0.7 0.53 0.89 (0.10, 7.95) 1.4 0.22 3.73 (0.68, 20.58) 0.8 0.27 1.29 (0.26, 6.50)
1

Denotes a haplotype that occurred too rarely for odds ratio estimation. Haplotype-specific p-values result from score tests of association that were adjusted for age and gender, and where the association between the given haplotype and disease is being tested. ORs and 95% CIs given in comparison to the reference category of the common H1C haplotype result from logistic regression models with the previously described adjustments for age and gender. Note that the p-value (P) (which results from a test of association between the given haplotype and risk of MSA in comparison to all other haplotypes) and the OR and 95% CI (which result from a test of association between the given haplotype and risk of MSA in comparison to the common H1C haplotype) do not directly correspond to one another. Freq.= Frequency; MSA=multiple system atrophy; OR=odds ratio; CI=confidence interval.