KLKB1基因多态性与肺血栓栓塞症的相关性

doi:10.3881/j.issn.1000-503X.2015.03.005

Acta Academiae Medicinae Sinica

Acta Academiae Medicinae Sinica ›› 2015, Vol. 37 ›› Issue (3): 274-278.doi: 10.3881/j.issn.1000-503X.2015.03.005

• Orginal Article • Previous Articles Next Articles

Association between KLKB1 Polymorphisms and Pulmonary Thromboembolism

Min-ne WANG^1,², Xiao-mao XU³, Zhen-guo ZHAI⁴, Liang SUN⁵, Bao-min FANG³, Fei XIAO⁵, Jian GUO⁵()

¹Graduate School,CAMS and PUMC,Beijing 100730,China
²National Center for Clinical Laboratories,Beijing Hospital,Beijing 100730,China
³Department of Respiratory and Critical Care Medicine,Beijing Hospital,Bejing 100730,China
⁴Beijing Key Laboratory of Respiratory and Pulmonary Circulation Disorders,Beijing Institute of Respiratory Medicine,Department of Respiratory Disease,Chaoyang Hospital,Capital University of Medical Sciences,Beijing 100020,China
⁵Beijing Institute of Geriatric Medicine,Beijing Hospital,Beijing 100730,China

Received:2015-02-04 Online:2015-05-23 Published:2015-06-30
Supported by:
Supported by the National Natural Sciences Foundation of China(81170050),the Science and Technology Nova Plan of Beijing(z121107002512058),the National Science & Technology Pillar Program during the 12th Five-year Plan Period(2011BAI11B17),and the National Department Public Benefit Research Foundation by Ministry of Health(201302008)

Abstract

Abstract: Objective

To investigate the potential correlation between the single nucleotide polymorphisms(SNPs)in the KLKB1 region and pulmonary thromboembolism(PTE)in a Chinese Han population.

Methods

In this case-control study,95 patients with confirmed PTE were enrolled as the PTE group and 90 healthy subjects as the control group. The genotypes,alleles,and haplotypes of the SNPs were analyzed with PLINK 1.07 and Haploview 4.2 software using chi-square test and Logistic regression analysis. SNPs were further analyzed under three genetic models(additive,dominant,and recessive).

Results

The distribution of rs3733402 in KLKB1 gene showed significant difference between PTE group and control group(P=0.041). The distributions of GTG haplotypes consisted of rs2292423,rs4253325,and rs3733402 in KLKB1 gene were also significantly different between PTE group and control group(P=0.040).

Conclusion

The rs3733402 locus variation in KLKB1 gene is associated with PTE in Chinese Han people.

Key words: single nucleotide polymorphisms, pulmonary thromboembolism, KLKB1, plasma prekallikrein

CLC Number:

R563.5

Min-ne WANG, Xiao-mao XU, Zhen-guo ZHAI, Liang SUN, Bao-min FANG, Fei XIAO, Jian GUO. Association between KLKB1 Polymorphisms and Pulmonary Thromboembolism[J].Acta Academiae Medicinae Sinica, 2015, 37(3): 274-278.

Figures/Tables 2

References 14

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等位基因Allele	M	N	P(HWE)	MM	MN	NN
rs2292423(T/A)
对照组 Control group	61(0.339)	119(0.661)	0.736	12(0.133)	37(0.411)	41(0.456)
PTE病例组 PTE group	62(0.326)	128(0.674)	0.999	10(0.105)	42(0.442)	43(0.453)
rs3733402(A/G)
对照组 Control group	54(0.303)	124(0.697)	0.837	7(0.079)	40(0.450)	42(0.471)
PTE病例组 PTE group	77(0.405)	113(0.595)	0.968	15(0.158)	47(0.495)	33(0.347)
rs4253325(G/A)
对照组 Control group	64(0.356)	116(0.644)	0.818	10(0.126)	44(0.459)	36(0.415)
PTE病例组 PTE group	52(0.273)	138(0.727)	0.274	4(0.042)	44(0.463)	47(0.495)

SNP位点 SNP loci	加性模型Addictive model			显性模型Dominant model			隐性模型Recessive model
SNP位点 SNP loci	OR(95%CI)	P	Pa	OR(95%CI)	P	Pa	OR(95%CI)	P	Pa
rs2292423	0.95(0.62~1.45)	0.801	2.403	1.01(0.58~1.81)	0.968	2.904	0.77(0.31~1.87)	0.556	1.688
rs3733402	1.60(1.02~2.50)	0.040	0.120	1.68(0.93~3.04)	0.086	0.258	2.20(0.85~5.67)	0.098	0.294
rs4253325	0.65(0.41~1.04)	0.075	0.225	0.68(0.38~1.22)	0.195	0.585	0.35(0.11~1.16)	0.076	0.228

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Association between KLKB1 Polymorphisms and Pulmonary Thromboembolism

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