Association between two SNPs of ISL1 gene and congenital heart disease in children / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 822-826, 2013.
Article
in Chinese
| WPRIM
| ID: wpr-345699
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the association between 2 SNPs of ISL1 gene and congenital heart disease (CHD) in Tianjin Han children.</p><p><b>METHODS</b>Polymerase chain reaction and DNA sequencing were used to detect 2 SNPs at rs41268421 and rs1017 sites of ISL1 gene, including 35 CHD cases and 30 non-CHD controls. Differences of genotype and allele frequencies of rs41268421 and rs1017 sites were compared, and haplotype analysis of the two sites was performed.</p><p><b>RESULTS</b>Three genotypes (GG, GT and TT) were detected at ISL1 gene SNP rs41268421, and three genotypes (AA, AT and TT) were detected at SNP rs1017. At rs41268421, GT+TT genotypes and T allele frequencies in the CHD group were statistically higher than in the controls. The risk of CHD in children with T allele was significantly increased compared with children with G allele (OR=4.833). At rs1017, AT+TT genotypes and T allele frequencies in the CHD group were statistically higher than controls. The risk of CHD in children with T allele was greater compared with children with A allele (OR=4.491; P<0.05). Four kinds of haplotype were detected in the two SNPs sites and TT type increased the risk of CHD (OR=7.813).</p><p><b>CONCLUSIONS</b>Haplotype TT may increase the risk of CHD in Tianjin Han children.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Transcription Factors
/
Haplotypes
/
Polymorphism, Single Nucleotide
/
LIM-Homeodomain Proteins
/
Genetics
/
Genotype
/
Heart Defects, Congenital
Limits:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2013
Type:
Article
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