Table 4.
Summary of studies correlating TNMD with various diseases.
Diseases | Study model | TNMD analysis | Main conclusions | References |
---|---|---|---|---|
Obesity | Longitudinal study, 166 men and 341 women with overweight and impaired glucose tolerance | TNMD SNPs | rs5966709 and rs4828037 were associated with adiposity in women; rs11798018 was related with adiposity in men. | Tolppanen et al., 2007 |
Longitudinal study, 68 obese cases, subcutaneous adipose tissue, omental adipose tissue | TNMD mRNA | TNMD was highly expressed in adipose tissue and increased in obesity and was downregulated during diet-induced weight loss in men and women. | Saiki et al., 2009 | |
Longitudinal study, 28 weight reduction cases and 18 controls, fat tissue | TNMD mRNA | Strong downregulation of TNMD expression after long-term weight reduction in men and women. | Kolehmainen et al., 2008 | |
Type 2 diabetes | Longitudinal study, 166 men and 341 women with overweight and impaired glucose tolerance | TNMD SNPs | rs2073163 and rs1155974 were linked with 2-hour plasma glucose in men; rs2073163, rs1155974, and rs2073162 were associated with type 2 diabetes in men; only rs2073162 associated with 2-hour plasma glucose in women. | Tolppanen et al., 2007 |
Metabolic syndrome | Cross-sectional study, random sample of 5298 men | TNMD SNPs | rs2073162 was related with serum lipoproteins in a BMI-dependent manner in men; no women were involved in the research. | Tolppanen et al., 2008a |
Longitudinal study, 9 lean and 9 obese male high fat cases, subcutaneous abdominal adipose tissue | TNMD mRNA | Expression of TNMD was linked with some relevant metabolic syndrome features in men; no women were involved in the research. | González-Muniesa et al., 2013 | |
Cross-sectional study, 166 men and 341 women with overweight and impaired glucose tolerance | TNMD SNPs | rs2073163, rs1155974, and rs2073162 were connected with acute phase reactants in men; rs5966709 and rs4828037 were associated with inflammatory factors in men and women; rs2073163, rs4828038, and rs1155974 were related with inflammatory factors in women. | Tolppanen et al., 2008b | |
Alzheimer's disease | Cross-sectional study, 526 Alzheimer's disease cases and 672 controls | TNMD SNPs | rs5966709 was connected with risk of Alzheimer's disease among women with AOPE ε4-allele; none of the SNPs associated with Alzheimer's disease in men. | Tolppanen et al., 2011 |
Age-related macular degeneration | Cross-sectional study, 307 age-related macular degeneration cases and 168 controls | TNMD SNPs | rs1155974 and rs2073163 were associated with a risk of age-related macular degeneration in women; none of the SNPs associated with prevalence of age-related macular degeneration among men. | Tolppanen et al., 2009 |
Rupture of the chordae tendineae cordis | Cross-sectional study, 12 normal and 16 ruptured chordae tendineae cordis (CTC), specimens obtained from autopsy or surgery, immunohisto-chemical analysis | TNMD protein | TNMD was locally absent in the rupture area, where abnormal vessel formation, strong expression of vascular endothelial growth factor-A and matrix metalloproteinases, and infiltration of inflammatory cells were observed, but not in the normal or non-ruptured CTC. | Kimura et al., 2008 |
Juvenile dermatomyositis | Cross-sectional study, 31 girls with Juvenile dermatomyositis and 4 healthy controls, muscle biopsies | TNMD mRNA | TNMD was up-regulated during the chronic inflammatory state of the disease, and downregulated when disease duration was short in girls, no boys were involved in the research. | Chen et al., 2008 |
Intellectual disability and seizures | Case report, two female patients, deletions spanning PCDH19 | TNMD gene | Genomic deletions spanning the TNMD gene in female-restricted epilepsy with mental retardation. | Vincent et al., 2012 |
Abbreviations: APOE, apolipoprotein E; CTC, chordae tendineae cordis; mRNA, messenger ribonucleic acid; PCDH19, Protocadherin 19; rs, reference SNP; SNP, single nucleotide polymorphism; TNMD, tenomodulin.