Analysis of polymorphisms of -443C/T and -616G/T loci of osteopontin gene in children with Kawasaki disease

doi:10.3877/cma.j.issn.1673-5250.2018.05.010

Objective

To explore the characteristics of polymorphisms of -443C/T and -616G/T loci in osteopontin (OPN) gene of children with Kawasaki disease, and association between coronary artery lesion (CAL) and these two loci.

Methods

A total of 104 children with Kawasaki disease who were admitted to Third Xiangya Hospital of Central South University from December 2006 to December 2014, were selected as research subjects (Kawasaki disease group). Using random number table method, another 100 health children who took physical examination in same hospital during the same period, were included into control group. Polymorphisms of -443C/T and -616G/T loci of OPN gene were detected by gene Sanger method in 204 subjects. Genotype frequency and allele frequency (AF) differences of two loci of OPN gene were compared between two groups of subjects by chi-square test, and the Pearson contingency coefficient (r) and independent chi-square test were used to analyze the correlation between CAL and polymorphisms of two loci of OPN gene in Kawasaki disease children. This study protocol was in line with the Institutional Review Board of Third Xiangya Hospital of Central South University (approval No. 2016-S155), and informed contents were obtained from the guardians of all subjects before they accepted the genetic testing.

Results

①The genotypes of -443C/T locus of OPN gene were CC, CT, TT, respectively, and the genotypes of -616G/T locus of OPN gene were GG, GT, TT, respectively. ②There were no significant differences between two groups of subjects in genotype frequency and AF of -443C/Tand -616G/T loci of OPN gene (P>0.05). ③CAL was not correlated with genotype frequency and AF of OPN gene -443C/T locus in children with Kawasaki disease (r=0.133, χ²=1.875, P=0.392; r=0.132, χ²=1.834, P=0.176); also was not correlated with genotype frequency and AF of OPN gene -616G/T locus in children with Kawasaki disease (r=0.130, χ²=1.775, P=0.412; r=0.059, χ²=0.365, P=0.546).

Conclusions

The polymorphisms of -443C/T and -616G/T loci of OPN gene were not yet found associated with occurrence of Kawasaki disease and concurrent CAL.

Key words: Mucocutaneous lymph node syndrome, Osteopontin, Polymorphism, genetic, Coronary artery lesion, Child

图2 骨桥蛋白基因－616G/T位点基因测序图(图2A：GG基因型；图2B：GT　基因型；图2C：TT　基因型)

表1 2组受试儿骨桥蛋白基因－443C/T、－616G/T位点的基因型频率及等位基因频率比较[例数(%)]

组别	例数	OPN基因－443C/T位点基因型			OPN基因－443C/T位点AF
组别	例数	CT	TT	CC	T	C
川崎病组	104	47(45.2)	46(44.2)	11(10.6)	139(66.8)	69(33.2)
对照组	100	56(56.0)	31(31.0)	13(13.0)	118(59.0)	82(41.0)
χ²值	?	?	3.798	?	2.679
P值	?	?	0.150	?	0.102
组别	例数	OPN基因－616G/T位点基因型			OPN基因－616G/T位点AF
组别	例数	GT	TT	GG	T	G
川崎病组	104	48(46.2)	33(31.7)	23(22.1)	114(54.8)	94(45.2)
对照组	100	49(49.0)	39(39.0)	12(12.0)	127(64.0)	73(36.0)
χ²值	?	?	3.891	?	3.186
P值	?	?	0.143	?	0.074

表1 2组受试儿骨桥蛋白基因－443C/T、－616G/T位点的基因型频率及等位基因频率比较[例数(%)]

组别	例数	OPN基因－443C/T位点基因型			OPN基因－443C/T位点AF
组别	例数	CT	TT	CC	T	C
川崎病组	104	47(45.2)	46(44.2)	11(10.6)	139(66.8)	69(33.2)
对照组	100	56(56.0)	31(31.0)	13(13.0)	118(59.0)	82(41.0)
χ²值	?	?	3.798	?	2.679
P值	?	?	0.150	?	0.102
组别	例数	OPN基因－616G/T位点基因型			OPN基因－616G/T位点AF
组别	例数	GT	TT	GG	T	G
川崎病组	104	48(46.2)	33(31.7)	23(22.1)	114(54.8)	94(45.2)
对照组	100	49(49.0)	39(39.0)	12(12.0)	127(64.0)	73(36.0)
χ²值	?	?	3.891	?	3.186
P值	?	?	0.143	?	0.074

表2 川崎病冠状动脉病变与骨桥蛋白基因－443C/T、－616G/T位点多态性的关联性分析[例数(%)]

CAL	例数	OPN基因－443C/T位点基因型			OPN基因－443C/T位点AF
CAL	例数	CT	TT	CC	T	C
有	43	18(41.8)	22(51.2)	3(7.0)	62(72.1)	24(27.9)
无	61	29(47.6)	24(39.3)	8(13.1)	77(63.1)	45(36.9)
χ²值	?	?	1.875	?	1.834
P值	?	?	0.392	?	0.176
CAL	例数	OPN基因－616G/T位点基因型			OPN基因－616G/T位点AF
CAL	例数	GT	TT	GG	T	G
有	43	23(53.5)	11(25.6)	9(20.9)	45(52.3)	41(47.7)
无	61	25(41.0)	22(36.1)	14(22.9)	69(56.6)	53(43.4)
χ²值	?	?	1.775	?	0.365
P值	?	?	0.412	?	0.546

表2 川崎病冠状动脉病变与骨桥蛋白基因－443C/T、－616G/T位点多态性的关联性分析[例数(%)]

CAL	例数	OPN基因－443C/T位点基因型			OPN基因－443C/T位点AF
CAL	例数	CT	TT	CC	T	C
有	43	18(41.8)	22(51.2)	3(7.0)	62(72.1)	24(27.9)
无	61	29(47.6)	24(39.3)	8(13.1)	77(63.1)	45(36.9)
χ²值	?	?	1.875	?	1.834
P值	?	?	0.392	?	0.176
CAL	例数	OPN基因－616G/T位点基因型			OPN基因－616G/T位点AF
CAL	例数	GT	TT	GG	T	G
有	43	23(53.5)	11(25.6)	9(20.9)	45(52.3)	41(47.7)
无	61	25(41.0)	22(36.1)	14(22.9)	69(56.6)	53(43.4)
χ²值	?	?	1.775	?	0.365
P值	?	?	0.412	?	0.546

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