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Sequencing of the IL6 gene in a case–control study of cerebral palsy in children
- Source :
- Khankhanian, Pouya; Baranzini, Sergio E; Johnson, Britt A; Madireddy, Lohith; Nickles, Dorothee; Croen, Lisa A; et al.(2013). Sequencing of the IL6 gene in a case¿control study of cerebral palsy in children. BMC Medical Genetics, 14(1), 126. doi: http://dx.doi.org/10.1186/1471-2350-14-126. Retrieved from: http://www.escholarship.org/uc/item/86b2t5mh, BMC Medical Genetics
- Publication Year :
- 2013
- Publisher :
- Springer Science and Business Media LLC, 2013.
-
Abstract
- Background Cerebral palsy (CP) is a group of nonprogressive disorders of movement and posture caused by abnormal development of, or damage to, motor control centers of the brain. A single nucleotide polymorphism (SNP), rs1800795, in the promoter region of the interleukin-6 (IL6) gene has been implicated in the pathogenesis of CP by mediating IL-6 protein levels in amniotic fluid and cord plasma and within brain lesions. This SNP has been associated with other neurological, vascular, and malignant processes as well, often as part of a haplotype block. Methods To refine the regional genetic association with CP, we sequenced (Sanger) the IL6 gene and part of the promoter region in 250 infants with CP and 305 controls. Results We identified a haplotype of 7 SNPs that includes rs1800795. In a recessive model of inheritance, the variant haplotype conferred greater risk (OR = 4.3, CI = [2.0-10.1], p = 0.00007) than did the lone variant at rs1800795 (OR = 2.5, CI = [1.4-4.6], p = 0.002). The risk haplotype contains one SNP (rs2069845, CI = [1.2-4.3], OR = 2.3, p = 0.009) that disrupts a methylation site. Conclusions The risk haplotype identified in this study overlaps with previously identified haplotypes that include additional promoter SNPs. A risk haplotype at the IL6 gene likely confers risk to CP, and perhaps other diseases, via a multi-factorial mechanism.
- Subjects :
- Sanger sequencing
Amniotic fluid
Single-nucleotide polymorphism
Biology
Bioinformatics
Polymorphism, Single Nucleotide
Linkage Disequilibrium
Frameshift mutation
Cerebral palsy
Pathogenesis
03 medical and health sciences
symbols.namesake
0302 clinical medicine
Haplotype
Genetics
medicine
Humans
SNP
Genetic Predisposition to Disease
Genetics(clinical)
Frameshift Mutation
Promoter Regions, Genetic
Genetics (clinical)
030304 developmental biology
IL-6
0303 health sciences
Interleukin-6
Cerebral Palsy
medicine.disease
Haplotypes
Case-Control Studies
symbols
030217 neurology & neurosurgery
Research Article
Subjects
Details
- ISSN :
- 14712350
- Volume :
- 14
- Database :
- OpenAIRE
- Journal :
- BMC Medical Genetics
- Accession number :
- edsair.doi.dedup.....a72af3dfb479efb4d6008d49c5008e3c