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[TPM1 gene mutation is associated with dilated cardiomyopathy in Kazaks in Xinjiang]
Yutong Ji1, Yaodong Li, Hongtao Zhang
1Pacing and Electrophysiology Department, First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, China.
Insights
The TPM1 gene rs1071646 polymorphism is a risk factor for idiopathic dilated cardiomyopathy (IDCM) in Kazaks, but not Han Chinese. This finding may help in diagnosing and treating IDCM in specific populations.
Area of Science:
- Genetics
- Cardiology
- Molecular Biology
Context:
- Dilated cardiomyopathy (DCM) is a significant cause of heart failure.
- The genetic basis of DCM, particularly in distinct ethnic groups, requires further investigation.
- The TPM1 gene encodes tropomyosin, a crucial protein in muscle contraction.
Purpose:
- To investigate the association between TPM1 gene mutations and dilated cardiomyopathy (DCM) in Kazak and Han populations in Xinjiang.
- To identify specific genetic variants and their correlation with DCM prevalence and severity.
- To analyze tropomyosin levels in relation to identified genetic factors.
Summary:
- A novel TPM1 variant (c.524 G > T) was found in two familial DCM (FDCM) patients.
- The rs1071646 polymorphism showed a significant association with idiopathic DCM (IDCM) in Kazaks, but not in Han Chinese.
- Lower tropomyosin levels were observed in both Kazak and Han IDCM patients compared to controls.
Impact:
- The rs1071646 polymorphism in the TPM1 gene is identified as a potential independent risk factor for IDCM specifically in the Kazak population.
- This research contributes to understanding the ethnic-specific genetic underpinnings of DCM.
- Findings may inform targeted genetic screening and therapeutic strategies for DCM in Kazak individuals.
Objective:
Detect the relationship between TPM1 gene mutations and dilated cardiomyopathy (DCM) of Kazaks and Hans in Xinjiang.
Methods:
TPM1 gene was screened from 31 family members in a Kazak family with familiar DCM (FDCM), 100 patients with idiopathic DCM (IDCM, 50 Kazaks and 50 Hans), and in 100 healthy controls (50 Kazaks and 50 Hans). All the samples were the inpatients or outpatients of First Affiliated Hospital of Xinjiang University from 2012 to 2014. PCR was used to amplify 9 exons and nearby introns of the TPM1 gene. The amplified products were sequenced and compared with the standard sequence with CHROMAS software and BLAST software in Pubmed to identify mutation sites. The relationship between TPM1 gene mutations in the Kazak IDCM and healthy volunteers, between Han and Kazak IDCM and healthy volunteers was analyzed. Tropomyosin was qualitatively and quantitatively detected by ELISA in all subjects.
Results:
A novel variant (c.524 G > T) was identified in two FDCM patients at exon 3, this mutation caused an amino acid substitution, Gln111His. The FDCM, IDCM from Kazak and Han, healthy volunteers from Kazak and Han were founded a rs1071646 (c.644C > A, Ala151Ala). There was a significant difference in the genotype distribution (χ(2) = 13.36, P = 0.001) and allele frequency (χ(2) = 10.25, P = 0.001) between Kazaks with IDCM and Kazak controls of rs1071646, while these parameters were similar between Han IDCM patients and Han controls (all P > 0.05). The tropomyosin content of Kazak and Han IDCM patients were significantly lower than Kazak and Han controls ((1 764.2 ± 350.9) ng/L vs. (2 369.7 ± 345.9) ng/L, P = 0.001).
Conclusion:
TPM1 gene of rs1071646 polymorphism is a possible independent risk factor for IDCM in Kazaks but not Han Chinese.
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