Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil)

Succi, Isabella Brasil; Pôrto, Luís Cristóvão; Domingues, Patricia Mariana Gonçalves da Rocha Porto; Fonseca, João Carlos Macedo

doi:10.1590/abd1806-4841.20186666

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Communication • An. Bras. Dermatol. 93 (1) • Jan-Feb 2018 • https://doi.org/10.1590/abd1806-4841.20186666 copy

Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil)^* * Study conducted at Hospital Universitário Pedro Ernesto and Laboratory of Histocompatibility and Cryopreservation, Universidade do Estado do Rio de Janeiro (UERJ) - Rio de Janeiro (RJ), Brazil.

Authorship SCIMAGO INSTITUTIONS RANKINGS

Abstract:

Porphyria cutanea tarda has a complex etiology with genetic factors not completely elucidated. The miscegenation of the Brazilian population has important implications in the predisposition to diseases. There are no studies concerning the genetic ancestry of patients with porphyria cutanea tarda from a mixed population. Thirty patients living in Rio de Janeiro with sporadic porphyria cutanea tarda were studied for the genetic ancestry through informative markers - INDELS. There was a significant predominance of European ancestry across the sample of patients with porphyria cutanea tarda (70.2%), and a small contribution of African and Amerindian ancestry, 20.1% and 10.9%, respectively.

Keywords:
Porphyria cutanea tarda; Genetics; Genomics; Population characteristics

Samples	%African	%European	%Amerindian	Samples	%African	%European	%Amerindian
1	31.8%	45.8%	22.4%	16	38.0%	49.0%	13.0%
2	5.1%	87.7%	7.2%	17	45.7%	47.7%	6.6%
3	3.1%	93.7%	3.3%	18	16.4%	77.1%	6.5%
4	16.2%	81.1%	2.7%	19	44.5%	47.6%	7.9%
5	47.8%	44.7%	7.6%	20	8.6%	81.0%	10.4%
6	21.7%	70.2%	8.2%	21	27.0%	67.5%	5.4%
7	16.0%	74.6%	9.4%	22	5.5%	86.8%	7.7%
8	13.2%	63.8%	23.0%	23	9.8%	84.6%	5.6%
9	25.0%	69.3%	5.7%	24	11.6%	73.6%	14.8%
10	15.8%	74.6%	9.6%	25	11.3%	74.2%	14.5%
11	13.9%	77.8%	8.3%	26	3.4%	93.3%	3.3%
12	14.9%	76.0%	9.1%	27	4.3%	87.1%	8.6%
13	7.5%	82.8%	9.7%	28	24.0%	69.3%	6.7%
14	25.8%	66.9%	7.3%	29	65.6%	29.1%	5.3%
15	9.3%	53.9%	36.9%	30	20.6%	75.4%	4.0%

Sociedade Brasileira de Dermatologia Av. Rio Branco, 39 18. and., 20090-003 Rio de Janeiro RJ, Tel./Fax: +55 21 2253-6747 - Rio de Janeiro - RJ - Brazil
E-mail: revista@sbd.org.br

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[1] Mailing address: Isabella Brasil Succi. E-mail: ibsucci@unisys.com.br