Genetic variants of <i>NRAMP1</i> and active tuberculosis in Japanese populations

Gao, Peisong; Fujishima, Seitaro; Mao, Xiao-Quan; Remus, Natascha; Kanda, Mizuo; Enomoto, Tadao; Dake, Yukihiro; Bottini, Nuntio; Tabuchi, Mitsuaki; Hasegawa, Naoki; Yamaguchi, Kazuhiro; Tiemessen, Caroline T.; Hopkin, Julian M.; Shirakawa, Taro; Kishi, Fumio

doi:10.1034/j.1399-0004.2000.580113.x

Cited by 108 publications

(86 citation statements)

References 12 publications

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“…The present study demonstrated a minor allele frequency of 0.135 in Chinese for these two markers. In fact, the minor allele frequencies were rather variable (0.04-0.20) in non-Caucasians, 14,16,17,21,25,42,46 while they tended to be much less common (0.01-0.05) in Caucasians. 19,42 LD within and around the SLC11A1 locus LD was measured on 360 unrelated individuals, corresponding to 720 haplotypes.…”

Section: Resultsmentioning

confidence: 94%

“…On a global scale, the (GT) 9 allele has a frequency range of 0.65-0.75 in Afrikaners, 24 African Americans 25 and Caucasians (including the Swedish, 45 Latvians 22 and Columbians 19 ), and of 0.80-0.90 in Africans and Asians (including Chinese, Koreans, 21 Vietnamese, 46 Indians 47 and the Japanese 17,23 ). The (GT) 10 allele (or allele 2) ranks second in frequency (0.10-0.35), while the classical (GT) 11 allele (or allele 1) is usually the least frequent (o0.05).…”

Section: Resultsmentioning

confidence: 99%

“…Many studies have reported association between the SLC1 (or (GT) n ) marker and several diseases, which include TB, 14,17 HIV infection, 19 juvenile Linkage disequilibrium around the SLC11A1 locus SP Yip et al RA, 22 IBD, 23 MS 24 and sarcoidosis. 25 These positive association results can of course be the consequences of the functional polymorphism per se.…”

Section: Decay Of Ldmentioning

confidence: 99%

“…[14][15][16][17] Association studies have also demonstrated positive association between this gene and other infectious diseases, for example, leprosy type in the West Africans and human immunodeficiency virus (HIV) infection in Columbians. 18,19 In addition, the SLC11A1 gene also appears associated with autoimmune inflammatory diseases, for example, rheumatoid arthritis (RA) in Canadian Caucasians and Koreans, juvenile rheumatoid arthritis in Latvians, inflammatory bowel disease (IBD) in the Japanese, multiple sclerosis (MS) in South African Caucasians and sarcoidosis in African Americans.…”

Section: Introductionmentioning

confidence: 99%

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Extent and distribution of linkage disequilibrium around the SLC11A1 locus

2003

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The SLC11A1 (or NRAMP1) locus on human chromosome 2q35 encodes for the protein solute carrier family 11, member 1. It is expressed in macrophages and involved in the early stages of macrophage priming and activation. Different association studies have shown that the SLC11A1 gene affects susceptibility to infectious diseases and autoimmune inflammatory diseases. Although functional SLC11A1 polymorphisms may account for its role in affecting the susceptibility to these diseases, the positive association can also be because of flanking polymorphisms showing linkage disequilibrium (LD) with this locus. This is the first systematic study to investigate the LD pattern within and around the gene. LD was investigated by genotyping 17 genetic markers in a Chinese population (n ¼ 360). The results indicate that LD is maintained at least 110 kb both upstream and downstream of the locus. The complex LD pattern demands that association studies with SLC11A1 should be carried out with both 5 0 and 3 0 markers. The strong LD between IL8RB and the 5 0 SLC11A1 markers also dictates that IL8RB be tested for association with these diseases. Thus, positive association with SLC11A1 should be interpreted cautiously, and IL8RB should also be considered as a potential candidate susceptibility gene unless proven otherwise.

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Section: Resultsmentioning

confidence: 94%

Section: Resultsmentioning

confidence: 99%

Section: Decay Of Ldmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Extent and distribution of linkage disequilibrium around the SLC11A1 locus

2003

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“…The NRAMP1 gene has also been linked or associated with tuberculosis susceptibility. [10][11][12] Recently, the extent of Mitsuda reactivity was shown to be linked to NRAMP1, suggesting that NRAMP1 itself may control important aspects of anti-M. leprae immune responsiveness. 4 Finally, a genome-wide scan for leprosy susceptibility loci, conducted in mostly paucibacillary leprosy families, identified a locus on chromosome 10.…”

Section: Introductionmentioning

confidence: 99%

Segregation of HLA/TNF region is linked to leprosy clinical spectrum in families displaying mixed leprosy subtypes

et al. 2003

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Each year an estimated 600 000 new leprosy cases are diagnosed worldwide. The spectrum of the disease varies widely from limited tuberculoid forms to extensive lepromatous forms. A measure of the risk to develop lepromatous forms of leprosy is provided by the extent of skin reactivity to lepromin (Mitsuda reaction). To address a postulated oligogenic control of leprosy pathogenesis, we investigated in the present study linkage of leprosy susceptibility, leprosy clinical subtypes, and extent of the Mitsuda reaction to six chromosomal regions carrying known or suspected leprosy susceptibility loci. The only significant result obtained was linkage of leprosy clinical subtype to the HLA/TNF region on human chromosome 6p21 (P corrected ¼ 0.00126). In addition, we established that within the same family different HLA/TNF haplotypes segregate into patients with different leprosy subtypes directly demonstrating the importance of this genome region for the control of clinical leprosy presentation.

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Immunogenetics

Shaw

2010

Topley &Amp; Wilson's Microbiology and Microbial Infections

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Genetic variants of NRAMP1 and active tuberculosis in Japanese populations

Cited by 108 publications

References 12 publications

Extent and distribution of linkage disequilibrium around the SLC11A1 locus

Extent and distribution of linkage disequilibrium around the SLC11A1 locus

Segregation of HLA/TNF region is linked to leprosy clinical spectrum in families displaying mixed leprosy subtypes

Immunogenetics

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