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Association between SNP rs10569304 on the second expressed region of hole gene and the congenital heart disease

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Summary

The correlation of single nucleotide polymorphism (SNP) rs10569304 on the second expressed region of hole gene and congenital heart disease (CHD) of human being, and the effect of hole gene on CHD were investigated. 179 patients with CHD as CHD group and 183 healthy people as control group were selected in the case-control study. DNA was abstracted from the peripheral blood by phenol-chloroform method. Primer was designed for the flanking sequence of SNP rs10569304 on the second expressed region of hole gene. The genotype was identified by PCR degenerative acrylamide electrophoresis with amplification products. Then the three amplification products received sequencing. By chi-square test, the genotype frequency and allele frequency in CHD group and control group were analyzed. There was insertion-deletion (GCC/-) of SNP rs10569304 which corresponded to alleles of A and B in Southern Chinese people. The genotype frequency and allele frequency in control group and CHD group were met the Hardy-Weinberg equilibrium. By chi-square test, in control group and CHD group, the genotype frequency of AA (insertion homozygous), AB (insertion-deletion heterozygous) and BB (deletion homozygous) was 21.31%, 54.09%, 24.59% and 16.75%, 46.36%, 36.87%, respectively. The distributional difference of genotype frequency had statistical significance (χ 2=6.51, P<0.05); The allele frequency of A and B was 48.36% and 51.64% in control group, 39.94% and 60.06% in CHD group, respectively. The distributional difference of allele frequency had statistical significance (χ 2=5.20, P<0.05). Meanwhile, by contrast with the control group, the BB genotype frequency and B allele frequency in CHD group was higher, but the AA and AB frequency was lower. There was higher risk to suffer from CHD involving B allele. BB genotype had 1.907-fold increased risk of developing CHD according to AA genotype (P<0.05). It is concluded that there is insertion-deletion (GCC/-) of SNP rs10569304 in the Southern Chinese people, and the people whose hole gene involving BB genotype have higher risk to suffering from CHD.

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Authors and Affiliations

  1. Department of Clinical Laboratory Medicine, Guiyang Medical College, Guiyang, 550004, China

    Yali Zhang  (张亚莉), Shiren Meng  (蒙仕仁) & Jianqing Wang  (王剑青)

  2. Department of Cardiology, Guangzhou General Hospital of Guangzhou Military Command of PLA, Guangzhou, 510010, China

    Lin Xu  (徐 琳), Jian Qiu  (邱 健), Linhai Li  (李林海), Guangli Ren  (任广立), Airong Dong  (董爱荣), Bingling Li  (李炳玲) & Mingxiao Ge  (葛明晓)

  3. Department of Cardiology, Zhujiang Hospital of Southern Medical University, Guangzhou, 510280, China

    Zhiliang Li  (李志梁)

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  1. Yali Zhang  (张亚莉)
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  2. Lin Xu  (徐 琳)
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  3. Jian Qiu  (邱 健)
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  4. Zhiliang Li  (李志梁)
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  8. Bingling Li  (李炳玲)
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  9. Mingxiao Ge  (葛明晓)
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  11. Jianqing Wang  (王剑青)
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Corresponding author

Correspondence to Lin Xu  (徐 琳).

Additional information

These authors contributed equally to this work.

This project was supported by grants from the Science & Technology Foundation of Guizhou Province (No. [2007]2088), China Postdoctoral Science Foundation (No. 20080440215), the Natural Science Foundation of Guangdong Province (No. 7000068) and the Science & Technology Planning Project of Guangzhou City and Guangdong Province (Nos. 2009B011000018, 2009J1-c491).

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Zhang, Y., Xu, L., Qiu, J. et al. Association between SNP rs10569304 on the second expressed region of hole gene and the congenital heart disease. J. Huazhong Univ. Sci. Technol. [Med. Sci.] 30, 430–436 (2010). https://doi.org/10.1007/s11596-010-0444-2

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  • DOI: https://doi.org/10.1007/s11596-010-0444-2

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