Rs1982073

This snp has been merged into Rs1800470

rs1982073, also known as codon 10, +10T/C or T869C, a SNP in the first exon of the transforming growth factor beta1 TGFB1 gene, has been implicated in a wide variety of disorders, presumably connected through the role TGFB1 plays in suppressing the immune system.

The L10P allele of rs1982073 is associated with a slightly increased risk of breast cancer.

The rs1982073(T) allele, generally associated with higher levels of TGFB1 protein production, has been associated with increased risk for the following:


 * Allograft rejection
 * The rs1982073(T) allele is associated with increased risk for subclinical allograft rejection with an odds ratio of 6.7 (p = 0.02).


 * Chronic obstructive pulmonary disease (COPD)
 * Although smoking is the main risk factor, smokers with a rs1982073(T) allele (or two other TGFB1 SNPs, rs2241712 and rs1800469) were more likely to develop COPD, based on a study of ~700 Caucasian subjects.


 * Cytopenia in patients with myelodysplastic syndrome (MDS)
 * rs1982073(T;T) homozygosity was associated with a severe degree of cytopenia (odds ratio 4.9, p = 0.0071) in patients with myelodysplastic syndrome (MDS), even though the genotype apparently does not predispose individuals to the disease.


 * Diabetes
 * A study of 400 Caucasians with type 1 diabetes found an increased risk for diabetic nephropathy for carriers of rs1982073(T) alleles.


 * Pre-eclampsia and stillbirth
 * Although not associated with the overall risk, among women who developed eclampsia/pre-eclampsia with severe renal and neurological complications or had neonatal deaths/still births, the rs1982073(T) allele was more likely in a relatively small study (< 100 patients).


 * Sarcoidosis and chronic beryllium disease
 * Although not associated with overall risk for developing the diseases, the rs1982073(T) allele was associated with the severity of granulomatous diseases such as chronic beryllium disease (CBD) and sarcoidosis, and a haplotype containing rs1982073(C) was protective against severe disease.

On the other hand (strand?), the less common rs1982073(C) allele, generally associated with lower levels of TGFB1 protein production, has been associated with increased risk as follows:


 * The rs1982073(C) allele was significantly more frequent in patients with two Epstein Barr virus (EBV)-related diseases, specifically, primary acute infectious mononucleosis (IM) and hemophagocytic lymphohistiocytosis (EBV-HLH), than in controls (p<0.001).


 * Alzheimer's disease
 * Both the rs1982073(C) allele and the (C;C) genotype were overrepresented in a study of ~200 patients compared to controls, independently of ApoE4 status. The (C;C) genotype was also overrepresented in patients progressing from MCI (mild cognitive impairment) to Alzheimer's, suggesting that TGFB1 may be an early marker of inflammatory mechanisms underlying Alzheimer's.


 * Brucellosis
 * A study of ~400 Iranian patients with brucellosis found that the rs1982073(C) allele was associated with increased risk.


 * Diabetes
 * A study of 400 Caucasians with type-2 diabetes determined that rs1982073(C) was associated with diabetic nephropathy, and even more strongly with diabetic retinopathy; the odds ratio patients with retinopathy but not nephropathy versus uncomplicated diabetes was 3.17 (CI: 2.17-4.63), and the different results between type-2 diabetes and type-1 diabetes were potentially ascribed to population differences.


 * Myopia
 * A study of 200 highly nearsighted Chinese Taiwanese found that people with the rs1982073(C;C) genotype were more likely to have high myopia compared to the (C;T) or (T;T) genotypes. The odds ratio was 1.83 (CI: 1.27-2.63, p<0.001).


 * Prostate cancer and benign prostatic hyperplasia (BPH)
 * The rs1982073(C) allele was associated with a higher risk of developing prostate cancer as well as benign prostatic hyperplasia (BPH) in a study of 175 Brazilian patients, with odds ratio compared to the population of 2.6x and 3.6x, respectively.


 * Ulcer
 * The rs1982073(C) allele was associated with risk for gastric ulcer with an odds ratio of 1.76 (CI: 1.12-2.77) in a study of 377 Russian patients.


 * Patients homozygous for rs1982073(C) were at greatest risk (odds ratio 7.7, p=0.03) for graft versus host disease (GVD) after heart transplantation.


 * Ovarian cancer
 * showed no association with ovarian cancer risk 4,624 invasive epithelial ovarian cancer cases and 8,113 controls of white non-Hispanic origin ovarian cancer

Genetic polymorphisms in the transforming growth factor-beta signaling pathways and breast cancer risk and survival.

an association of (C) with hypertension in rheumatoid arthritis patients

rs1982073 chemoradiotherapy (C;C) and (C;T) were associated with a better disease-free and overall survival when compared with the low-producer TT genotype (hazard ratios for interaction 3.42, 95% CI 1.12-10.5 and 3.09, 95% CI 0.96-10.0, respectively)