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Minerva Biotecnologica 2000 March;12(1):43-8

language: English

Car­di­o­vas­cu­lar dis­ease as a mod­el of genet­ic test­ing of mul­ti­fac­to­ri­al dis­or­ders

Pignatti P. F.

Dipar­ti­men­to Mater­no-Infan­tile e di Bio­lo­gia-Genet­i­ca, Sez­i­one di Bio­lo­gia e Genet­i­ca, ­Università ­degli Stu­di, Vero­na, Ita­ly


Car­di­o­vas­cu­lar dis­eas­es (CVD) are a ­good mod­el of genet­ic test­ing of mul­ti­fac­to­ri­al dis­or­ders. A few poly­mor­phisms in dif­fer­ent ­genes relat­ed to ­some of the ­best ­known etiop­a­thog­e­net­ic path­ways are ­known. Gen­o­typ­ing for ­these var­i­ants may ­offer pre­ven­tive or ther­a­peu­tic advan­tage. ­Four exam­ples are giv­en: the C677T muta­tion in the meth­ty­lene tet­ra­hy­dro­fo­late reduc­tase (­MTHFR) ­gene, and ­folate sup­ple­men­ta­tion; the Leid­en muta­tion in anti­co­ag­u­la­tion fac­tor V (FV) ­gene, and dis­con­tin­u­a­tion of ­oral con­tra­cep­tives; the inser­tion/dele­tion muta­tion of the angio­ten­sin con­vert­ing ­enzyme (ACE) ­gene, and pre­ven­tion of hyper­ten­sive pro­gres­sion of ­renal dis­ease; the Taq I B muta­tion of the cho­les­ter­y­lest­er trans­fer pro­tein (­CETP) ­gene, and ­choice of lip­id low­er­ing ­drug. Pop­u­la­tion dif­fer­enc­es in the fre­quen­cy of ­these poly­mor­phisms ­have ­been ­described, and ­data are giv­en on the Ital­ian pop­u­la­tion. Genet­ic test­ing of CVD and of oth­er mul­ti­fac­to­ri­al dis­or­ders is in its infan­cy. It is sug­gest­ed ­that ­progress in func­tion­al genom­ics and in ana­lyt­i­cal approach­es to asso­ci­a­tion stud­ies is need­ed, and ­that con­fi­den­tial­ity ­issues ­have to be ­addressed. It is ­easy to pre­dict ­that the use of genet­ic ­tests for deter­min­ing an ­individual’s pre­dis­po­si­tion to com­mon dis­or­ders ­will ­soon ­become ­more com­mon ­than test­ing for genet­ic dis­eas­es. Med­i­cal genet­ics edu­ca­tion of ­health pro­fes­sion­als in the dif­fi­cult art of coun­sel­ling for genet­ic ­risks to mul­ti­fac­to­ri­al dis­or­ders has cor­re­spond­ing­ly to be dra­mat­i­cal­ly fos­tered.

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