rs2270968

This is a variant in the MCCC1 gene that changes a histidine to an proline.

▶

GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

carnitine measurement

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)

Allele T

OR 0.03

p 1.0e-16

N 5,588

Large GWAS

European

Parkinson disease

Foo JN et al. “Genome-wide association study of Parkinson's disease in East Asians.” Human Molecular Genetics 26(1):226-232 (2017)

Allele G

OR 1.18

p 3.0e-8

N 14,006

Large GWAS

multi-ancestry

▶

ClinVar annotation

Benign★★★☆

13 submitters2 publications

3-methylcrotonyl-CoA carboxylase 1 deficiency (MCC1D); not specified

View on ClinVar →

▶

Research that mentions this SNP (1)

▶

Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand

AssociationN=325Nopasak Phasukkijwatana et al.(2010)· Human Genetics

Genome-wide linkage scan in Thai LHON families with G11778A mtDNA mutation identified four linkage peaks on chromosomes 3, 12, 13, and 18. Association study of six mitochondrial-localizing genes found two intronic SNPs in PARL (rs3749446 and rs1402000, both P = 8.8 × 10⁻⁵) that remained significant after multiple testing correction, suggesting PARL as a nuclear modifier of LHON disease expression.

Traits studied:LHON expressionLeber hereditary optic neuropathy (LHON)

PubMed DOI Metascience Observatory

About MCCC1

This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]