rs6445606
This variant is located in the CHDH gene.
▶Research that mentions this SNP (1)
▶Polymorphisms in CHDH gene and the risk of tooth agenesisAssociationN=344Adrianna Mostowska et al.(2011)· Birth Defects Research Part A: Clinical and Molecular Teratology
This case-control study examined 21 SNPs in 13 folate and choline metabolism genes for associations with tooth agenesis (hypodontia/oligodontia) in a Polish population of 159 cases and 185 controls. The CHDH gene variant rs6445606 showed the strongest association with a protective effect (OR=0.434, p=0.0004), with individuals carrying the C allele having reduced risk of tooth agenesis. Multifactor dimensionality reduction analysis revealed a significant epistatic interaction between CHDH rs6445606 and PLD2 rs3764897 (p=0.004).
About CHDH
The protein encoded by this gene is a choline dehydrogenase that localizes to the mitochondrion. Variations in this gene can affect susceptibility to choline deficiency. A few transcript variants have been found for this gene, but the full-length nature of only one has been characterized to date. [provided by RefSeq, Dec 2010]
View all CHDH variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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