Susceptibility to leprosy is associated with PARK2 and PACRG

被引：355

作者：

Mira, MT

Alcaïs, A

Van Thuc, N

Moraes, MO

Di Flumeri, C

Thai, VH

Phuong, MC

Huong, NT

Ba, NN

Khoa, PX

Sarno, EN

Alter, A

Montpetit, A

Moraes, ME

Moraes, JR

Doré, C

Gallant, CJ

Lepage, P

Verner, A

van de Vosse, E

Hudson, TJ

Abel, L ^{[6
]}

Schurr, E

机构：

[1] McGill Univ, McGill Ctr Study Host Resistance, Montreal, PQ H3G 1A4, Canada

[2] McGill Univ, Dept Human Genet, Montreal, PQ H3G 1A4, Canada

[3] McGill Univ, Dept Med, Montreal, PQ H3G 1A4, Canada

[4] McGill Univ, Dept Biochem, Montreal, PQ H3G 1A4, Canada

[5] Univ Catolica Parana, Ctr Ciencias Biol & Saude, BR-80215901 Curitiba, Parana, Brazil

[6] Univ Paris 05, Fac Med Necker, INSERM, U550,Lab Genet Humaine Malad Infect, F-75015 Paris, France

[7] Hosp Dermatovenereol, Ho Chi Minh City, Vietnam

[8] Fiocruz MS, Inst Oswaldo Cruz, Dept Trop Med, Leprosy Lab, BR-20221903 Rio De Janeiro, Brazil

[9] McGill Univ, Montreal, PQ H3A 1A4, Canada

[10] Genome Quebec Innovat Ctr, Montreal, PQ H3A 1A4, Canada

[11] Minist Saude, Inst Nacl Canc, Lab Imunogenet, BR-20230130 Rio De Janeiro, Brazil

[12] Leiden Univ, Med Ctr, Dept Infect Dis, NL-2333 ZA Leiden, Netherlands

[13] Leiden Univ, Med Ctr, Dept Immunohematol & Blood Transfus, NL-2333 ZA Leiden, Netherlands

来源：

NATURE | 2004年 / 427卷 / 6975期

基金：

加拿大健康研究院;

关键词：

D O I：

10.1038/nature02326

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Leprosy is caused by Mycobacterium leprae and affects about 700,000 individuals each year(1). It has long been thought that leprosy has a strong genetic component(2), and recently we mapped a leprosy susceptibility locus to chromosome 6 region q25-q26 (ref. 3). Here we investigate this region further by using a systematic association scan of the chromosomal interval most likely to harbour this leprosy susceptibility locus. In 197 Vietnamese families we found a significant association between leprosy and 17 markers located in a block of approx. 80 kilobases overlapping the 5' regulatory region shared by the Parkinson's disease gene PARK2 and the co-regulated gene PACRG. Possession of as few as two of the 17 risk alleles was highly predictive of leprosy. This was confirmed in a sample of 975 unrelated leprosy cases and controls from Brazil in whom the same alleles were strongly associated with leprosy. Variants in the regulatory region shared by PARK2 and PACRG therefore act as common risk factors for leprosy.

引用

页码：636 / 640

页数：5

共 18 条

[1] GOLD - Graphical Overview of Linkage Disequilibrium [J].