[Association between LMNA mutation and familial and idiopathic dilated cardiomyopathy patients in Xinjiang].
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.
Cardiac Pacing and Electrophysiological Division, First Affiliated Hospital, Xinjiang Medical University, Urumqi 830011, China.
Shuai
S
Sun
Yuan
Y
Zhang
Jumei
J
Zhao
Xianhui
X
Zhou
Yingying
Y
Wang
Guli
G
Tuerxun
Hongwei
H
Zhang
Email: tangbaopeng@hotmail.com.
Baopeng
B
Tang
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002311:Cardiomyopathy, Dilated / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China; D005260:Female; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic; D012307:Risk Factors; D055815:Young Adult
C494847:LMNA protein, human; D034904:Lamin Type A