RGD Reference Report - Polymorphisms in catechol-O-methyltransferase and cytochrome p450 subfamily 19 genes predispose towards Madurella mycetomatis-induced mycetoma susceptibility. - Rat Genome Database

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Polymorphisms in catechol-O-methyltransferase and cytochrome p450 subfamily 19 genes predispose towards Madurella mycetomatis-induced mycetoma susceptibility.

Authors: Van de Sande, WW  Fahal, A  Tavakol, M  Van Belkum, A 
Citation: van de Sande WW, etal., Med Mycol. 2010 Nov;48(7):959-68. doi: 10.3109/13693781003636680.
RGD ID: 8662334
Pubmed: PMID:20184498   (View Abstract at PubMed)
DOI: DOI:10.3109/13693781003636680   (Journal Full-text)

Mycetoma caused by Madurella mycetomatis is a devastating and neglected disease which primarily affects males. Since this predominance cannot be easily explained by behaviour differences between men and women, other factors, including sex hormones, could be the cause. To monitor for possible deficiencies in hormone synthesis among mycetoma patients, we investigated the types and allele frequencies of the genes encoding for catechol-O-methyltransferase (COMT), cytochrome p450 subfamily 1 (CYP1B1), cytochrome p450 subfamily 17 (CYP17), cytochrome p450 subfamily 19 (CYP19) and hydroxysteroid dehydrogenase 3B (HSD3B). Significant differences in allele distribution were demonstrated for CYP19 (P=0.004) and COMT (P=0.005), as well as gender dimorphism for both CYP19 and COMT polymorphisms. The COMT polymorphism was associated with lesion size. The genotypes obtained for COMT and CYP19 were connected with higher 17β-estradiol production, which was confirmed by significantly elevated serum levels of 17β-estradiol in male patients. In contrast, lowered levels of dehydroepiandrosteron (DHEA) were found in mycetoma patients. The in vitro growth of M. mycetomatis was not influenced by 17β-estradiol, progesterone, DHEA and testosterone. The differences in hormone levels we noted between mycetoma patients and healthy controls did not directly affect the fungus itself. Indirect effects on the patients' hormone regulated immune states are the more likely explanations for mycetoma susceptibility.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
eumycotic mycetoma severityIAGP 8662334DNA:missense mutation:cds: (rs4680) (human)RGD 
eumycotic mycetoma severityISOCOMT (Homo sapiens)8662334; 8662334DNA:missense mutation:cds: (rs4680) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormal circulating dehydroepiandrosterone concentration severityIAGP 8662334DNA:missense mutation:cds: (rs4680)RGD 
Abnormal foot morphology severityIAGP 8662334DNA:missense mutation:cds: (rs4680)RGD 
Localized skin lesion severityIAGP 8662334DNA:missense mutation:cds: (rs4680)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Comt  (catechol-O-methyltransferase)

Genes (Mus musculus)
Comt  (catechol-O-methyltransferase)

Genes (Homo sapiens)
COMT  (catechol-O-methyltransferase)


Additional Information