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Lack of association between polymorphisms of MASP2 and susceptibility to SARS coronavirus infection.

Wang Y, Yan J, Shi Y, Li P, Liu C, Ma Q, Yang R, Wang X, Zhu L, Yang X, Cao C - BMC Infect. Dis. (2009)

Bottom Line: Tag single nucleotide polymorphisms (tagSNPs) were chosen using pairwise tagging algorithms.There is no significant association between alleles or genotypes of the MASP2 tagSNP and susceptibility to SARS-CoV in both Beijing and Guangzhou populations.The Beijing and Guangzhou sample groups were homogeneous regarding demographic and genetic parameters, a joined analysis also showed no statistically significant evidence of association.

View Article: PubMed Central - HTML - PubMed

Affiliation: Beijing Institute of Biotechnology, Beijing, PR China. 001wangyan@sina.com

ABSTRACT

Background: The pathogenesis of severe acute respiratory disease syndrome (SARS) is not fully understood. One case-control study has reported an association between susceptibility to SARS and mannan-binding lectin (MBL) in China. As the downstream protein of MBL, variants of the MBL-associated serine protease-2 (MASP2) gene may be associated with SARS coronavirus (SARS-CoV) infection in the same population.

Methods: Thirty individuals with SARS were chosen for analysis of MASP2 polymorphisms by means of PCR direct sequencing. Tag single nucleotide polymorphisms (tagSNPs) were chosen using pairwise tagging algorithms. The frequencies of four tag SNPs (rs12711521, rs2261695, rs2273346 and rs7548659) were ascertained in 376 SARS patients and 523 control subjects, using the Beckman SNPstream Ultra High Throughput genotyping platform.

Results: There is no significant association between alleles or genotypes of the MASP2 tagSNP and susceptibility to SARS-CoV in both Beijing and Guangzhou populations. Diplotype (rs2273346 and rs12711521)were analyzed for association with susceptibility to SARS, no statistically significant evidence of association was observed. The Beijing and Guangzhou sample groups were homogeneous regarding demographic and genetic parameters, a joined analysis also showed no statistically significant evidence of association.

Conclusion: Our data do not suggest a role for MASP2 polymorphisms in SARS susceptibility in northern and southern China.

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Related in: MedlinePlus

Gene content of NC_000001.9in chromosome 1p36, discovered SNPs and LD of MASP2. (a) Genomic structure of genes in this region. (b) Exons of MASP2 and the position of SNPs discovered. (c) Pairwise LD between SNPs (MAF >0.05) at this gene. The value within each diamond represents the pairwise correction between SNPs (measured as D') defined by the upper left and upper right sides of the diamond. The diamond without a number corresponds to D' = 1. Shading represents the magnitude and significance of pairwise LD, with a red-to-white gradient reflecting higher to lower LD values.
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Figure 1: Gene content of NC_000001.9in chromosome 1p36, discovered SNPs and LD of MASP2. (a) Genomic structure of genes in this region. (b) Exons of MASP2 and the position of SNPs discovered. (c) Pairwise LD between SNPs (MAF >0.05) at this gene. The value within each diamond represents the pairwise correction between SNPs (measured as D') defined by the upper left and upper right sides of the diamond. The diamond without a number corresponds to D' = 1. Shading represents the magnitude and significance of pairwise LD, with a red-to-white gradient reflecting higher to lower LD values.

Mentions: Sequencing of the 11 exons of MASP2, the 5' and 3' regions of the gene, and some intronic sequences in 30 individuals with SARS identified 17 polymorphisms (Table 2). Eleven of the SNPs have been published in the dbSNP database http://www.ncbi.nlm.nih.gov/SNP/index.html. Allele and genotype frequencies were consistent with those expected under Hardy-Weinberg equilibrium. Nine SNPs (allele frequency >5%) were chosen with Haploview for assessment. The SNPs were contained in two blocks of LD (Fig. 1), as defined by Lewontin's/ D'/. SNPs including rs7548659, rs2273347 and rs6695096 were located outside of the defined LD blocks. Four tag-SNPs were chosen with the pairwise tagging algorithm implemented in the Tagger program of Haploview: rs7548659, rs12711521, rs2273346 and rs2261695 (r2 threshold was 0.8). Genotype frequencies of the tag-SNP except rs2261695 in other populations that have been published in the HapMap database were shown in table 3 as control. http://www.hapmap.org/cgi-perl/gbrowse/hapmap3_B36/. The four TagSNPs were genotyped in SARS patients and controls with an average success rate of 96%.


Lack of association between polymorphisms of MASP2 and susceptibility to SARS coronavirus infection.

Wang Y, Yan J, Shi Y, Li P, Liu C, Ma Q, Yang R, Wang X, Zhu L, Yang X, Cao C - BMC Infect. Dis. (2009)

Gene content of NC_000001.9in chromosome 1p36, discovered SNPs and LD of MASP2. (a) Genomic structure of genes in this region. (b) Exons of MASP2 and the position of SNPs discovered. (c) Pairwise LD between SNPs (MAF >0.05) at this gene. The value within each diamond represents the pairwise correction between SNPs (measured as D') defined by the upper left and upper right sides of the diamond. The diamond without a number corresponds to D' = 1. Shading represents the magnitude and significance of pairwise LD, with a red-to-white gradient reflecting higher to lower LD values.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2683852&req=5

Figure 1: Gene content of NC_000001.9in chromosome 1p36, discovered SNPs and LD of MASP2. (a) Genomic structure of genes in this region. (b) Exons of MASP2 and the position of SNPs discovered. (c) Pairwise LD between SNPs (MAF >0.05) at this gene. The value within each diamond represents the pairwise correction between SNPs (measured as D') defined by the upper left and upper right sides of the diamond. The diamond without a number corresponds to D' = 1. Shading represents the magnitude and significance of pairwise LD, with a red-to-white gradient reflecting higher to lower LD values.
Mentions: Sequencing of the 11 exons of MASP2, the 5' and 3' regions of the gene, and some intronic sequences in 30 individuals with SARS identified 17 polymorphisms (Table 2). Eleven of the SNPs have been published in the dbSNP database http://www.ncbi.nlm.nih.gov/SNP/index.html. Allele and genotype frequencies were consistent with those expected under Hardy-Weinberg equilibrium. Nine SNPs (allele frequency >5%) were chosen with Haploview for assessment. The SNPs were contained in two blocks of LD (Fig. 1), as defined by Lewontin's/ D'/. SNPs including rs7548659, rs2273347 and rs6695096 were located outside of the defined LD blocks. Four tag-SNPs were chosen with the pairwise tagging algorithm implemented in the Tagger program of Haploview: rs7548659, rs12711521, rs2273346 and rs2261695 (r2 threshold was 0.8). Genotype frequencies of the tag-SNP except rs2261695 in other populations that have been published in the HapMap database were shown in table 3 as control. http://www.hapmap.org/cgi-perl/gbrowse/hapmap3_B36/. The four TagSNPs were genotyped in SARS patients and controls with an average success rate of 96%.

Bottom Line: Tag single nucleotide polymorphisms (tagSNPs) were chosen using pairwise tagging algorithms.There is no significant association between alleles or genotypes of the MASP2 tagSNP and susceptibility to SARS-CoV in both Beijing and Guangzhou populations.The Beijing and Guangzhou sample groups were homogeneous regarding demographic and genetic parameters, a joined analysis also showed no statistically significant evidence of association.

View Article: PubMed Central - HTML - PubMed

Affiliation: Beijing Institute of Biotechnology, Beijing, PR China. 001wangyan@sina.com

ABSTRACT

Background: The pathogenesis of severe acute respiratory disease syndrome (SARS) is not fully understood. One case-control study has reported an association between susceptibility to SARS and mannan-binding lectin (MBL) in China. As the downstream protein of MBL, variants of the MBL-associated serine protease-2 (MASP2) gene may be associated with SARS coronavirus (SARS-CoV) infection in the same population.

Methods: Thirty individuals with SARS were chosen for analysis of MASP2 polymorphisms by means of PCR direct sequencing. Tag single nucleotide polymorphisms (tagSNPs) were chosen using pairwise tagging algorithms. The frequencies of four tag SNPs (rs12711521, rs2261695, rs2273346 and rs7548659) were ascertained in 376 SARS patients and 523 control subjects, using the Beckman SNPstream Ultra High Throughput genotyping platform.

Results: There is no significant association between alleles or genotypes of the MASP2 tagSNP and susceptibility to SARS-CoV in both Beijing and Guangzhou populations. Diplotype (rs2273346 and rs12711521)were analyzed for association with susceptibility to SARS, no statistically significant evidence of association was observed. The Beijing and Guangzhou sample groups were homogeneous regarding demographic and genetic parameters, a joined analysis also showed no statistically significant evidence of association.

Conclusion: Our data do not suggest a role for MASP2 polymorphisms in SARS susceptibility in northern and southern China.

Show MeSH
Related in: MedlinePlus