Delta-amino-levulinic acid dehydratase gene and essential tremor

作者：Agundez Jose A G; Garcia Martin Elena; Alonso Navarro Hortensia; Ayuso Pedro; Esguevillas Gara; Benito Leon Julian; Ortega Cubero Sara; Pastor Pau; Lopez Alburquerque Tomas; Javier Jimenez Jimenez Felix

来源：European Journal of Clinical Investigation, 2017, 47(5): 348-356.

DOI：10.1111/eci.12742

• ALAD gene
• essential tremor
• genetics
• HMOX1 gene
• HMOX2 gene
• lead toxicity

BackgroundSeveral reports found a relationship between increased serum lead levels and the risk for essential tremor (ET), especially in carriers of the minor allele of the single nucleotide polymorphism (SNP) rs1800435 in the aminolevulinate dehydratase (ALAD) gene, which is involved in the synthesis of haem groups. Our group reported decreased risk for ET in carriers of the minor alleles of the rs2071746 and rs1051308 SNPs in the haem-oxygenases 1 and 2 (HMOX1 and HMOX2), respectively, involved in haem metabolism. We analysed whether ALAD rs1800435 alone and their interactions with the four common SNPs in the HMOX1 and HMOX2 genes are associated with the risk for ET.
Materials and methodsWe analysed the genotype and allele variants frequencies of ALAD rs1800435 in 202 patients with familial ET and 218 healthy controls using a TaqMan method. We also analysed the role of the interaction between ALAD rs1800435 and the HMOX1 rs2071746, HMOX1 rs2071747, HMOX2 rs2270363 and HMOX2 rs1051308 with the risk of developing ET.
ResultsThe frequencies of genotype and allelic variants of ALAD rs1800435 did not differ significantly between patients with ET and controls, and were not influenced by gender. Subjects carrying the ALAD rs1800435CC genotype (wild-type) and the HMOX2 rs1051308GG genotype or the HMOX2 rs1051308G allele had significantly decreased risk for ET.
ConclusionsThese results suggest that the ALAD rs1800435 SNP is not related with the risk for ET, but its interaction with the HMOX2 rs1051308 SNP could be weakly associated with the risk for this disease.

• 出版日期2017-5