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. Author manuscript; available in PMC: 2017 Aug 1.
Published in final edited form as: Gene. 2016 Apr 26;587(1):1–17. doi: 10.1016/j.gene.2016.04.051

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.