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CHfather

another one for the smart folks

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Seems nice that someone is studying this.

Molecular Analysis of Cluster Headache; Zarrilli F, Tomaiuolo R, Ceglia C, Lombardo B, Izzo B, Castaldo G, Pastore L, Simone R; Clinical Journal of Pain (Jan 2014)

   

OBJECTIVES: Cluster headache (CH) is characterized by severe, recurrent, unilateral attacks of extreme intensity and brief duration. Variants in a myriad of genes were studied in sporadic CH patients, often with conflicting results.

METHODS: We studied gene mutations in some candidate genes, i.e., hypocretin-receptor 2, Clock and alcohol-dehydrogenase (ADH) 4 in 54 unrelated sporadic CH subjects and in 200 controls and, for the first time, in 8 kindreds/families that included more affected and non-affected cases. Furthermore, we performed the whole genome scanning by comparative genomic hybridization (CGH), searching for rearrangements associated to DNA gain or loss in a subset of sporadic and familial CH and control subjects.

RESULTS: The analysis of candidate genes revealed that only allele and genotype frequency of the two ADH4 mutations resulted significantly between sporadic CH and controls; the same mutations were homozygous in CH patients from two families. The CGH analysis revealed two novel rearrangements that involved the intron regions of thyrotropin-releasing hormone degrading enzyme and neurexin (NRXN) 3 genes, respectively. The first one was present either in CH and in control subjects; the second was specifically found in some sporadic and familial CH cases.

CONCLUSIONS: our data (although obtained on a small number of cases) confirm the genetic heterogeneity of CH suggesting that mutations in the ADH4 gene and a novel rearrangement involving neurexin 3 gene might be related to CH in a subset of cases.

http://www.docguide.com/molecular-analysis-cluster-headache?tsid=5

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And a similar study related to the ADH4 gene...interestingly the Italians seem to be doing research...anyone with Italian in their genes? Ihave!

Cluster headache is associated with the alcohol dehydrogenase 4 (ADH4) gene.

Rainero I, et al. Headache. 2010

Abstract

BACKGROUND/OBJECTIVES: Alcohol is a well-known trigger factor for cluster headache attacks during the active phases of the disease. The alcohol dehydrogenase (ADH) pathway, which converts alcohol to the toxic substance acetaldehyde, is responsible for most of the alcohol breakdown in the liver. Humans have 7 ADH genes, tightly clustered on chromosome 4q21-q25, that encode different ADH isoforms. The ADH4 gene encodes the class II ADH4 pi subunit, which contributes, in addition to alcohol, to the metabolization of a wide variety of substrates, including retinol, other aliphatic alcohols, hydroxysteroids, and biogenic amines. The purpose of this study was to investigate the association of genetic variants within the ADH4 gene with cluster headache susceptibility and phenotype.

METHODS: A total of 110 consecutive unrelated cluster headache patients and 203 age- and sex-matched healthy controls of Caucasian origin were involved in the study. Patients and controls were genotyped for 2 bi-allelic single nucleotide polymorphisms (SNPs) of the ADH4 gene: SNP1 - rs1800759 and SNP2 - rs1126671. Allele, genotype, and haplotype frequencies of the examined polymorphisms were compared between cases and controls.

RESULTS: Genotype frequencies of the rs1126671 polymorphism resulted significantly different between cluster headache patients and controls (chi(2) = 10.269, P = .006). The carriage of the AA genotype, in comparison with remaining genotypes, was associated with a significantly increased disease risk (OR = 2.33, 95% CI: 1.25-4.37). Haplotype analysis confirmed the association between the ADH4 gene and the disease. No association between different clinical characteristics of cluster headache and the examined polymorphisms was found.

CONCLUSION: Our data suggest that cluster headache is associated with the ADH4 gene or a linked locus. Additional studies are warranted to elucidate the role of this gene in the etiopathogenesis of the disease.

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On 6/14/2017 at 0:55 PM, Cenzo said:

And a similar study related to the ADH4 gene...interestingly the Italians seem to be doing research...anyone with Italian in their genes? Ihave!

Cluster headache is associated with the alcohol dehydrogenase 4 (ADH4) gene.

Rainero I, et al. Headache. 2010

 

If you look at the figures, the difference between control and patients is at most about 10%. It's statistically significant, but impossible to say whether it's pathological. snp s don't always alter the function of a gene / protein in a significant way. I've attached the full PDF of the publication.

Rainero_et_al-2010-Headache-_The_Journal_of_Head_and_Face_Pain.pdf

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