Matrix metalloproteinase-9 genotypes and haplotypes are associated with multiple sclerosis and with the degree of disability of the disease

J Neuroimmunol. 2009; 214(1-2):128-31.

Fernandes KS, Brum DG, Sandrim VC, Guerreiro CT, Barreira AA, Tanus-Santos JE.

Multiple sclerosis (MS) is an autoimmune disease causing severe neurological disability. This study was carried out in order to determine whether the MMP-9 C(-1562)T and (CA)(13-25) polymorphisms are associated with MS. A total of 165 patients (92 whites/73 mulattos) and 191 controls (96 whites/95 mulattos) were enrolled in the study. While no difference in C(-1562)T polymorphism was observed between MS and healthy subjects, (CA)(n) genotypes and alleles were associated with MS. Moreover, the haplotypes are not associated with MS but seem to be relevant to the clinical status of MS. Thus the (CA)(n) polymorphism may contribute to MS susceptibility, but C(-1562)T and (CA)(n) haplotypes may modulate disease severity.

T allele of -344 C/T polymorphism in aldosterone synthase gene is not associated with resistant hypertension

Hypertens Res. 2009; 32(2):159-62


Lacchini R, Sabha M, Coeli FB, Favero FF, Yugar-Toledo J, Izidoro-Toledo TC,
Sandrim VC, Tanus-Santos JE, de Mello MP, Moreno H Jr.

Resistant hypertension (RH) is the maintenance of elevated blood pressure concurrent with the use of three different anti-hypertensive drugs, one of which is a diuretic. The Renin-Angiotensin-Aldosterone System plays a major role in volume-dependent hypertension. Therefore, its components are interesting targets for genetic association studies. This work focused on the -344 C/T polymorphism in the CYP11b2 gene, which encodes aldosterone synthase. This work evaluates the association between T allele and resistance to anti-hypertensive treatment. Genotyping analysis