Abstract
Some variations of human genome [for example, single nucleotide polymorphisms (SNPs)] are markers of hereditary diseases and drug responses. Analysis of them can help to improve treatment. Computer-based analysis of millions of SNPs in the 1000 Genomes project makes a search for SNP markers more targeted. Here, we combined two computer-based approaches: DNA sequence analysis and keyword search in databases. In the binding sites for TATA-binding protein (TBP) in human gene promoters, we found candidate SNP markers of gender-biased autoimmune diseases, including rs1143627 [cachexia in rheumatoid arthritis (double prevalence among women)]; rs11557611 [demyelinating diseases (thrice more prevalent among young white women than among non-white individuals)]; rs17231520 and rs569033466 [both: atherosclerosis comorbid with related diseases (double prevalence among women)]; rs563763767 [Hughes syndrome-related thrombosis (lethal during pregnancy)]; rs2814778 [autoimmune diseases (excluding multiple sclerosis and rheumatoid arthritis) underlying hypergammaglobulinemia in women]; rs72661131 and rs562962093 (both: preterm delivery in pregnant diabetic women); and rs35518301, rs34166473, rs34500389, rs33981098, rs33980857, rs397509430, rs34598529, rs33931746, rs281864525, and rs63750953 (all: autoimmune diseases underlying hypergammaglobulinemia in women). Validation of these predicted candidate SNP markers using the clinical standards may advance personalized medicine.
Highlights
Recent studies [1] showed that the imbalance between effectors and regulators of immune responses causes autoimmune diseases
We developed a computer-based statistical estimate of single nucleotide polymorphisms (SNPs)-caused alteration of TATA-binding protein (TBP)’s binding affinity for promoters [69]; this estimate can predict a change in expression of the human genes associated with monogenic diseases [70]
The human IL1B gene in its promoter contains a known SNP marker of intractable Graves’ disease [92]. This pathology has the highest prevalence among females with skewed X chromosome inactivation [93]. This SNP is a substitution of a minor T for an ancestral C at position −31 in the promoter of this gene
Summary
Recent studies [1] showed that the imbalance between effectors and regulators of immune responses causes autoimmune diseases. SNP Markers of Autoimmune Diseases induced by an infection attack self-antigens that are similar to the pathogen’s epitopes. This concept is a common explanation for the development of autoimmune diseases, i.e., destruction of host tissues by the host immune system [4, 5]. Women have greater immune responsiveness than men do, and it manifests itself in the fourfold prevalence of autoimmune diseases among women [10]. Sex hormones amplify this hyperimmune response as do adolescence, pregnancy, and menopause stress-related hormonal status of women [11,12,13,14]
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