ACP1 AND HUMAN ADAPTABILITY .1. ASSOCIATION WITH COMMON DISEASES - A CASE-CONTROL STUDY

被引:52
作者
BOTTINI, E
GLORIABOTTINI, F
BORGIANI, P
机构
[1] Cattedra di Pediatria Preventiva e Sociale, Dipartimento di Chirurgia, Facoltà di Medicina, Universita' di Roma-Torvergata, Roma, 00173, Via O. Raimondo
关键词
D O I
10.1007/BF00210290
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Human red cell acid phosphatase (ACP1) is a polymorphic enzyme closely related to cytosolic low molecular weight acid phosphatases, a protein family broadly conserved among eukaryotes. Two different functions have been proposed for ACP1: flavin mononucleotide (FMN) phosphatase and phosphotyrosine phosphatase (PTPase). Given that genetic variants of ACP1 activity are common, the enzyme could have a role in regulating a large spectrum of cellular functions and, in turn, disease susceptibility. In the present paper we report a study of ACP1 genetic polymorphism in 1088 normal subjects and in 1267 subjects from the population of Rome admitted to hospital for a number of common diseases. All ACP1 parameters investigated show highly significant differences among samples, suggesting that the enzyme may have a significant role in some of the diseases considered. In particular, consistent associations of ACP1 with develop mental disturbances and with hemolytic favism have been observed. In the majority of diseases showing association with ACP1, only one of the two ACP1 isoforms, f and s, is involved, supporting the hypothesis of a functional differentiation between the two enzymatic fractions.
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页码:629 / 637
页数:9
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