Methods for use in the diagnosis of autoimmune diseases

Patent metadata

Field	Value
Publication number	US-11718877-B2
Application number	US-201916545469-A
Country	US
Kind code	B2
Filing date	Aug 20, 2019
Priority date	Aug 21, 2015
Publication date	Aug 8, 2023
Grant date	Aug 8, 2023

Abstract

This disclosure provides new genetic targets, diagnostic methods, and therapeutic treatment regimens for multiple autoimmune disorders, including pediatric autoimmune disorders that are co-inherited and genetically shared. The disclosure, for example, provides methods of diagnosing or determining a susceptibility for one or more autoimmune diseases and methods of determining treatment protocols for patients with one or more autoimmune diseases based on determining if the patients have genetic alterations in particular genes.

First claim

What is claimed is:

1. A method for detecting a T allele in a single nucleotide variation (SNV) in rs77150043 on 16q12.1 in ADCY7 in a Crohn's disease (CD) or psoriasis (PS or PSOR) human patient, the method comprising:
a) obtaining a biological sample from the human patient; and
b) detecting in a nucleic acid from the sample a T allele in SNV rs77150043 on 16q12.1 in ADCY7 by contacting the sample with a probe specific for said SNV and detecting binding between said probe and said SNV.

2. The method of claim 1 , wherein the method further comprises detecting an allele present in an SNV in one or more of IL23R, LPHN2, PTPN22, TNFSF18, CRB1, IL10, TSSC1, IL18R1, ATG16L1, GPR35, DAG1, CYTL1, IL21, TNM3, PTGER4, ANKRD55, ERAP2, IL5, IL12B, 8q24.23, JAK2, LURAP1L, TNFSF15, FNBP1, CARD9, IL2RA, ANKRD30A, ZNF365, ZMIZ1, NKX2-3, INS, LRRK2, SUOX, EFNB2, SMAD3, SBK1, ATXN2L, NOD2, IKZF3, TYK2, FUT2, TNFRSF6B, PSMG1, CD40LG, and RBMX, by contacting the sample with a probe specific for said SNV and detecting binding between said probe and said SNV, wherein said allele is

rs11580078
G allele
1p31.3
IL23R;

rs2066363
C allele
1p31.1
LPHN2;

rs6679677
A allele
1.13.2
PTPN22;

rs34884278
C allele
1q24.3
TNFSF18;

rs6689858
C allele
1q31.3
CRB1;

rs55705316
G allele
1q32.1
IL10;

rs114846446
A allele
2p25.3
TSSC1;

rs2075184
T allele
2q12.1
IL18R1;

rs36001488
C allele
2q37.1
ATG16L1;

rs4676410
A allele
2q37.3
GPR35;

rs4625
G allele
3p21.31
DAG1;

rs76772495
C allele
4p16.2
CYTL1;

rs62324212
A allele
4q27
IL21;

rs7660520
A allele
4q35.1
TNM3;

rs7725052
C allele
5p13.1
PTGER4;

rs7731626
A allele
5q11.2
ANKRD55;

rs4869313
T allele
5q15
ERAP2;

rs11741255
A allele
5q31.1
IL5;

rs755374
T allele
5q33.3
IL12B;

rs7831697
G allele
8q24.23;

rs36051895
T allele
9p24.1
JAK2;

rs7042370
T allele
9p23
LURAPIL;

rs4246905
T allele
9q32
TNFSF15;

rs10988542
C allele
9q34.11
FNBP1;

rs11145763
C allele
9q34.3
CARD9;

rs706778
T allele
10p15.1
IL2RA;

rs7100025
G allele
10p11.21
ANKRD30A;

rs10822050
C allele
10q21.2
ZNF365;

rs1250563
C allele
10q22.3
ZMIZ1;

rs1332099
T allele
10q24.2
NKX2-3;

rs1885785
T allele
11p15.5
INS;

rs17466626
G allele
12q12
LRRK2;

rs1689510
C allele
12q13.2
SOUX;

rs11839053
C allele
13q33.3
EFNB2;

rs72743477
G allele
15q22.33
SMAD3;

rs12598357
G allele
16p11.2
SBK1;

rs12928404
C allele
16p11.2
ATXN2L;

rs117372389
T allele
16q2.1
NOD2;

rs1223497
C allele
17q12
IKZF3;

rs62131887
T allele
19p13.2
TYK2;

rs602662
G allele
19q13.33
FUT2;

rs2738774
A allele
20q13.33
TNFRSF6B;

rs2836882
A allele
21q22.2
PSMG1;

rs2807264
C allele
Xq26.3
CD40LG; and

rs12863738
T allele
Xq26.3
RBMX.

Assignees

• Childrens Hospital Philadelphia

Inventors

• Hakonarson Hakon
• Li Yun Rose
• Keating Brendan

Classifications

• C12Q1/6883 Primary

  for diseases caused by alterations of genetic material · CPC title

• C12Q2600/106

  Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism · CPC title

• C12Q2600/156

  Polymorphic or mutational markers · CPC title

• C12Q2600/158

  Expression markers · CPC title

• A61P1/00

  Drugs for disorders of the alimentary tract or the digestive system · CPC title