Genetic alterations on chromosomes 21Q, 6Q and 15Q and methods of use thereof for the diagnosis and treatment of type 1 diabetes
Compositions and methods for the detection and treatment of T1D are provided.
1. A method of treating Type I Diabetes (T1D) in a human subject, comprising
a) obtaining a biological sample from said subject, said sample comprising nucleic acid;
b) determining the presence or absence of a T1D associated single nucleotide polymorphism selected from
Chr
SNP
Position
Gene
Aff allele freq
Ctrl allele freq
OR [95% CI]
P
21
rs9976767
42709459
UBASH3A
0.474
0.436
1.165 [1.051-1.292]
0.0036
9
rs10758593
4282083
GLIS3
0.429
0.426
1.013 [0.913-1.124]
0.81
9
rs10758594
4285583
GLIS3
0.434
0.443
0.963 [0.869-1.068]
0.48
15
rs8035957
36625556
RASGRP1
0.270
0.261
1.047 [0.932-1.176]
0.44
6
rs3757247
91014184
BACH2
0.497
0.463
1.144 [1.033-1.268]
0.010
1
rs1983853
85083780
EDG7
0.132
0.153
0.842 [0.726-0.976]
0.022
and
c) administering to said human subject a therapeutically effective amount of at least one agent useful for the treatment of T1D symptoms when said SNP is present, wherein said agent is at least one siRNA provided in Tables 6-10 in a pharmaceutically acceptable carrier.
2. The method of claim 1 , wherein said symptoms are aberrant blood sugar levels.
3. The method of claim 1 , wherein said agent modulates function of a gene product selected from the group consisting of UBASH3A, GLIS3, RASGRP1, BACH2, and EDG7.
4. The method of claim 1 , wherein said SNP is determined using a process selected from the group consisting of detection of specific hybridization, measurement of allele size, restriction fragment length polymorphism analysis, allele-specific hybridization analysis, single base primer extension reaction, and sequencing of an amplified polynucleotide.
5. The method of claim 1 , further comprising determining the presence or absence of rs17574546 and rs7171171.