ABSTRACT
OBJECTIVE: To explore the association between LMNA gene mutation and familiar dilated cardiomyopathy (DCM) (FDCM) and idiopathic DCM (IDCM) in Uygurs and Hans people in Xinjiang area. METHODS: Peripheral blood samples were collected from 28 family member with FDCM and 123 sporadic patients with IDCM(56 Uygur patients and 67 Han patients), 80 Uygur and 80 Han people were chosen as normal controls. PCR was used to amplify the 12 exons of LMNA gene. The amplified products were sequenced and compared with the standard sequence in the NCBI to determine the mutation sites. RESULTS: Transmission of the allele C and T of rs4641 was similar in Han FDCM patients. One new variation(c.1714C>T) located at exon 10 of LMNA gene was identified in 1 Han patient with IDCM, this mutation caused an amino acid substitution (R572C). In Uygurs people, rs553016 polymorphism was significant different between IDCM and control groups (P < 0.05). Logistic regression revealed that rs553016 was an independent risk factor for Uygurs patients with IDCM (OR = 3.178, P = 0.035). CONCLUSIONS: LMNA rs4641 is not associated with FDCM of Hans people in Xinjiang while LMNA mutation is associated with IDCM and rs533106 polymorphism is an independent risk factor for Uygurs patients with IDCM.
