Multiple Sclerosis blog of DNA Technical reading.
I did a 23and me home testing.
If you did a health dna, this will show up under celiac diseases.
It may take some reading, and researching, but this will show up.
The HLA-DRB/DQA gene
There are links to folllow, but for less confusion, just Google the gene.
there are many variants I show below, having a complete DNA done of me. Everybody may be different, but hope this helps science.
https://ghr.nlm.nih.gov/gene/HLA-DQB1#conditions
https://ghr.nlm.nih.gov/gene/HLA-DQB1#conditions
Look up on Google this gene, and look under auto immune disorders
HLA-DQB1 gene
major histocompatibility complex, class II, DQ beta 1
Normal variations of the HLA-DQB1 gene have been associated with several additional disorders. Most of these disorders have an autoimmune basis, which means they occur when the immune system malfunctions and attacks the body's own tissues and organs. Autoimmune disorders that have been associated with HLA-DQB1 include multiple sclerosis, pemphigus, and type 1 diabetes (described below).
Multiple sclerosis is a chronic disorder of the brain and spinal cord (central nervous system) that causes muscle weakness, poor coordination, numbness, and a variety of other health problems. Several variations of HLA-DQB1 appear to increase the risk of developing this disorder. One of these variations, HLA-DQB1*06:02, is the same version of the gene that increases the risk of narcolepsy.
Some evidence suggests that the HLA-DQB1 gene may also play a role in several forms of pemphigus, a condition that causes severe blistering of the skin and mucous membranes (such as the moist lining of the mouth).
It is unclear how different versions of the HLA-DQB1 gene influence the risk of developing autoimmune disorders. These disorders typically result from a combination of multiple environmental and genetic factors. Changes in other HLA and non-HLA genes, some of which remain unknown, also likely contribute to the risk of developing these complex conditions.
23and me
We detected a variant linked to the HLA-DQ8 haplotype.doing
Photo from wikipidia.org
https://en.m.wikipedia.org/wiki/HLA-DQB1
Multiple sclerosis
I am not a doctor, or scientist, just researching, trying to understand the aspects of Multiple Sclerosis is having on me, and the commonalities this disease has of raging they my body.
Further investigation shows these SNP I have.
SNP : rs12487066
SNP : rs312993
SNP : rs3135388
SNP : rs6897932
SNP : rs7326018
Technical Report for these genes from DNA done 12/2019
SNP : rs12487066
Gen o Región : 3q13.11
UserSNP usedGenotypeAdjusted Odds Ratio*lrs12487066CT0.97
Multiple sclerosis has a clinically significant heritable component. It was conducted a genome-wide association study to identify alleles associated with the risk of multiple sclerosis.
It was used DNA microarray technology to identify common DNA sequence variants in 931 family trios (consisting of an affected child and both parents) and tested them for association. For replication, we genotyped another 609 family trios, 2322 case subjects, and 789 control subjects and used genotyping data from two external control data sets. A joint analysis of data from 12,360 subjects was performed to estimate the overall significance and effect size of associations between alleles and the risk of multiple sclerosis.
A transmission disequilibrium test of 334,923 SNPs in 931 family trios revealed 49 SNPs having an association with multiple sclerosis (P<1x10(-4)); of these SNPs, 38 were selected for the second-stage analysis. A comparison between the 931 case subjects from the family trios and 2431 control subjects identified an additional non-overlapping 32 SNPs (P<0.001). An additional 40 SNPs with less stringent P values (<0.01) were also selected, for a total of 110 SNPs for the second-stage analysis. Of these SNPs, two within the interleukin-2 receptor alpha gene (IL2RA) were strongly associated with multiple sclerosis (P=2.96x10(-8)), as were a non-synonymous SNP in the interleukin-7 receptor alpha gene (IL7RA) (P=2.94x10(-7)) and multiple SNPs in the HLA-DRA locus (P=8.94x10(-81)).
Bibliography
International Multiple Sclerosis Genetics Consortium. Risk alleles for multiple sclerosis identified by a genome-wide study. N Engl J Med. 2007 Aug 30;357(9):851-62.
SNP : rs3129934
Gen o Región : C6orf10
UserSNP usedGenotypeAdjusted Odds Ratio*rs3129934CT0.97
Multiple sclerosis is a chronic inflammatory demyelinating disease of the central nervous system with an important genetic component and strongest association driven by the HLA genes.
It was performed a pooling-based genome-wide association study in which Comabella et al. described eight SNPs validated in Spanish Caucasian cohort and US Caucasian cohorts. The most significant association was obtained for SNP rs3129934, which neighbors the HLA-DRB/DQA loci. Said SNP is associated with an increased risk for multiple sclerosis. The OR was 3.0 (CI: 1.8-5.0; P = 1.4×10(-5)).
Another studied polymorphism was rs7326018 which is one of the eight SNPs associated with increased risk for multiple sclerosis. Its OR was 1.8 (CI: 1.1-2.9, p = 0.0228).
Bibliography
Comabella M, Craig DW, Carmiña-Tato M, Morcillo C, Lopez C, Navarro A, et al. Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms. PLoS One. 2008;3(10):1–9.
SNP : rs3135388
Gen o Región : 6p21.32
UserSNP usedGenotypeAdjusted Odds Ratio*rs3135388GA1.81
Multiple sclerosis has a clinically significant heritable component. It was conducted a genome-wide association study to identify alleles associated with the risk of multiple sclerosis.
It was used DNA microarray technology to identify common DNA sequence variants in 931 family trios (consisting of an affected child and both parents) and tested them for association. For replication, we genotyped another 609 family trios, 2322 case subjects, and 789 control subjects and used genotyping data from two external control data sets. A joint analysis of data from 12,360 subjects was performed to estimate the overall significance and effect size of associations between alleles and the risk of multiple sclerosis.
A transmission disequilibrium test of 334,923 SNPs in 931 family trios revealed 49 SNPs having an association with multiple sclerosis (P<1x10(-4)); of these SNPs, 38 were selected for the second-stage analysis. A comparison between the 931 case subjects from the family trios and 2431 control subjects identified an additional non-overlapping 32 SNPs (P<0.001). An additional 40 SNPs with less stringent P values (<0.01) were also selected, for a total of 110 SNPs for the second-stage analysis. Of these SNPs, two within the interleukin-2 receptor alpha gene (IL2RA) were strongly associated with multiple sclerosis (P=2.96x10(-8)), as were a non-synonymous SNP in the interleukin-7 receptor alpha gene (IL7RA) (P=2.94x10(-7)) and multiple SNPs in the HLA-DRA locus (P=8.94x10(-81)).
Bibliography
International Multiple Sclerosis Genetics Consortium. Risk alleles for multiple sclerosis identified by a genome-wide study. N Engl J Med. 2007 Aug 30;357(9):851-62.
Gregory SG, Schmidt S, Seth P, Oksenberg JR, Hart J, Prokop A, et al. Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. Nat Genet. 2007;39(9):1083–91.
SNP : rs6897932
Gen o Región : IL7R
UserSNP usedGenotypeAdjusted Odds Ratio*rs6897932CC1.06
Multiple sclerosis is a demyelinating neurodegenerative disease with a strong genetic component.
Previous genetic risk studies have failed to identify consistently linked regions or genes outside of the major histocompatibility complex on chromosome 6p. There is a study in which was described the allelic association of a polymorphism in the gene encoding the interleukin 7 receptor alpha chain (IL7R) as a significant risk factor for multiple sclerosis in four independent family-based or case-control data sets (overall P = 2.9x10(-7)). Further, the likely causal SNP, rs6897932, located within the alternatively spliced exon 6 of IL7R, has a functional effect on gene expression. The SNP influences the amount of soluble and membrane-bound isoforms of the protein by putatively disrupting an exonic splicing silencer.
This gene encodes a protein called alpha-IL7R. This protein plays an important role in how two growth factors (IL-7 and TSLP) affect specialization and maintenance of various immune cells.
IL7R-alpha protein can take two different forms. One way is anchored in the membranes of immune cells, while the other form is released by the cells into the bloodstream. The relative amounts of the two forms can affect the signalling amount mediated by IL-7 and TSLP, and therefore change their action on the immune system. Rs6897932 allele (C) increases the amount of free IL7R-alpha.
Since multiple sclerosis could be seen in autoimmune diseases, it makes sense that a SNP in a protein involved in the immune system would be associated with the disease. Furthermore, it has been observed that IL-7 signaling is altered in such patients.
Changes in IL-7 signaling could lead to the development of multiple sclerosis in several ways: through spontaneous reactions in immune cells and decreasing the ability to defend them, favouring chronic infections.
Bibliography
Gregory SG, Schmidt S, Seth P, Oksenberg JR, Hart J, Prokop A, et al. Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. Nat Genet. 2007;39(9):1083–91.
Lundmark F, Duvefelt K, Iacobaeus E, Kockum I, Wallström E, Khademi M, et al. Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis. Nat Genet. 2007 Sep;39(9):1108-13.
International Multiple Sclerosis Genetics Consortium. Risk alleles for multiple sclerosis identified by a genome-wide study. N Engl J Med. 2007 Aug 30;357(9):851-62.
SNP : rs7326018
Gen o Región : 13q31.3
UserSNP usedGenotypeAdjusted Odds Ratio*rs7326018TT2.09
Multiple sclerosis is a chronic inflammatory demyelinating disease of the central nervous system with an important genetic component and strongest association driven by the HLA genes.
It was performed a pooling-based genome-wide association study in which Comabella et al. described eight SNPs validated in Spanish Caucasian cohort and US Caucasian cohorts. The most significant association was obtained for SNP rs3129934, which neighbors the HLA-DRB/DQA loci. Said SNP is associated with an increased risk for multiple sclerosis. The OR was 3.0 (CI: 1.8-5.0; P =1.4×10(-5)).
The rs7326018 polymorphism is one of the eight SNPs associated with increased risk for multiple sclerosis. Its OR was 1.8 (CI: 1.1-2.9, P = 0.0228)
I hope this Technical report will be useful, and would love feedback from scientist, Drs, or you, exploring genes related to Multiple Sclerosis, and if others are coming up, or I will add to this page when other genes from DNA are found.
Cheers
JoeY
