Genetic variants of the MRC1 gene and the IFNG gene are associated with leprosy in Han Chinese from Southwest China

Wang, Dong; Feng, Jiaqi; Li, Yuye; Df, Zhang; Li, Xiao-An; Li, Qingwei; Yao, Yong‐Gang

doi:10.1007/s00439-012-1153-7

Cited by 37 publications

(34 citation statements)

References 39 publications

(58 reference statements)

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“…In addition, several studies show a correlation between this sequence variant and invasive as well as pulmonary aspergillosis [116][117][118]. Finally, Sainz et al observe a correlation with susceptibility to aspergillosis in Candida colonization G [113] Recurrent vulvovaginal candidiasis G [114] Onychomycosis G [114] CLEC7A CD206 rs1926736 C > T Gly396Ser Tuberculosis C [122] Leprosy T [123,124] CD206 rs692527 T > C Unknown Leprosy C [124] CD206 rs34856358 C > T Unknown Leprosy T [124] PTX3 h2/h2 (G-A/G-A) Aspergillosis h2/h2 haplotype [125] PTX3 rs2305619 A > G Tuberculosis Haplotype (GAG) [126] PTX3 rs1840680 G > A Tuberculosis Haplotype (GAG) [126] Pseudomonas aeruginosa colonization Haplotype (GAG) [127] MBL rs1800450 rs5030737 rs1800451…”

Section: C-type Lectin Receptorsmentioning

confidence: 93%

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Genetic Variation in Pattern Recognition Receptors: Functional Consequences and Susceptibility to Infectious Disease

et al. 2015

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Cells of the innate immune system are equipped with surface and cytoplasmic receptors for microorganisms called pattern recognition receptors (PRRs). PRRs recognize specific pathogen-associated molecular patterns and as such are crucial for the activation of the immune system. Currently, five different classes of PRRs have been described: Toll-like receptors, C-type lectin receptors, nucleotide-binding oligomerization domain-like receptors, retinoic acid-inducible gene I-like receptors and absent in melanoma 2-like receptors. Following their discovery, many sequence variants in PRR genes have been uncovered and shown to be implicated in human infectious diseases. In this review, we will discuss the effect of genetic variation in PRRs and their signaling pathways on susceptibility to infectious diseases in humans.

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Section: C-type Lectin Receptorsmentioning

confidence: 93%

“…Very little is known about sequence variants in CD206 and susceptibility to infectious disease in humans. Nevertheless, sequence variant rs1926736 (Gly396Ser) in exon 7 of the MRC1 gene on chromosome 10 is suggested to be associated in susceptibility to leprosy and tuberculosis [122][123][124].…”

Section: • Mannose Receptormentioning

confidence: 98%

Genetic Variation in Pattern Recognition Receptors: Functional Consequences and Susceptibility to Infectious Disease

et al. 2015

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“…These samples had been analyzed for potential associations of other genes with leprosy in our previous studies1352. A total of 80 unrelated leprosy patients (38 lepromatous leprosy [LL] patients and 42 tuberculoid leprosy [TT] patients) with a family history of disease (each family has at least two leprosy patients) were collected from the Wenshan Prefecture, Yunnan Province.…”

Section: Methodsmentioning

confidence: 99%

“…affecting transcription factor binding sites or enacting other regulatory factor / mechanism, were estimated by referring to the RegulomeDB dataset (http://www.regulomedb.org/)36. All SNPs were genotyped in the cases and controls from the Yuxi Prefecture by using the SNaPshot assay (Table S7) as described in our previous studies2752 at the Kunming Biological Diversity Regional Center of Instruments, KIZ. For the NGS of the PARL, PINK1 and PARK2 genes in 80 leprosy patients from the Wenshan Prefecture, we used the same approach as described in our recent study53.…”

Section: Methodsmentioning

confidence: 99%

Common variants in the PARL and PINK1 genes increase the risk to leprosy in Han Chinese from South China

Wang

Feng

et al. 2016

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Leprosy is a chronic infectious and neurological disease caused by Mycobacterium leprae, an unculturable pathogen with massive genomic decay and dependence on host metabolism. We hypothesized that mitochondrial genes PARL and PINK1 would confer risk to leprosy. Thirteen tag SNPs of PARL and PINK1 were analyzed in 3620 individuals with or without leprosy from China. We also sequenced the entire exons of PARL, PINK1 and PARK2 in 80 patients with a family history of leprosy by using the next generation sequencing technology (NGS). We found that PARL SNP rs12631031 conferred a risk to leprosy (Padjusted = 0.019) and multibacillary leprosy (MB, Padjusted = 0.020) at the allelic level. rs12631031 and rs7653061 in PARL were associated with leprosy and MB (dominant model, Padjusted < 0.05) at the genotypic level. PINK1 SNP rs4704 was associated with leprosy at the genotypic level (Padjusted = 0.004). We confirmed that common variants in PARL and PINK1 were associated with leprosy in patients underwent NGS. Furthermore, PARL and PINK1 could physically interact with each other and were involved in the highly connected network formed by reported leprosy susceptibility genes. Together, our results showed that PARL and PINK1 genetic variants are associated with leprosy.

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“…The MR C type 1 gene ( MRC-1 ) is located on chromosome 10p12 and consists of 30 exons. Several reports have shown that MRC-1 is associated with susceptibility to a subset of diseases, including asthma [19], sarcoidosis [20], and leprosy [21,22]. …”

Section: Introductionmentioning

confidence: 99%

Association of MRC-1 and IL-28Bwith the treatment outcome of hepatitis C: a case control study

et al. 2014

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BackgroundThe aim of this study was to evaluate whether polymorphisms of the mannose receptor C type 1 (MRC-1) and interleukin 28B (IL-28B) genes are associated with the treatment outcome of patients infected with hepatitis C virus genotypes 1 and 2 (HCV-1 and HCV-2, respectively) who are treated with peginterferon plus ribavirin (PEG-IFNα-RBV).MethodsWe analyzed the association of the patients’ sustained viral responses (SVRs) to PEG-IFNα-RBV therapy with 2 single nucleotide polymorphisms (SNPs) in MRC-1 and 3 SNPs in IL-28B. We selected patients infected with either HCV-1 (n = 265) or HCV-2 (n = 195) with or without SVR.ResultsAmong the MRC-1 SNPs, rs691005 was found to be associated with SVR in HCV-1-infected patients (P < 0.0001). The IL-28B rs8099917 SNP was found to be associated with SVR in HCV-1- and HCV-2-infected patients (HCV-1, P < 0.0001; HCV-2, P = 0.002), while IL-28B rs955155 and rs10853728 SNPs were found to be associated with SVR in HCV-1-infected patients (P = 0.003) and HCV-2-infected patients (P = 0.02), respectively. We also identified an interaction between MRC-1 rs691005 and IL-28B rs8099917 (P = 0.001). The C-T haplotype was shown to have a positive effect on SVR in HCV-1-infected patients (OR = 1.77, 95% CI = 1.2, 2.62), whereas the T-G haplotype was shown to have a negative effect on SVR in HCV-1-infected patients (OR = 0.28, 95% CI = 0.14, 0.58).ConclusionsThese results suggest that SNPs of IL-28B and MRC-1 can be used as genetic markers for predicting the outcome of PEG-IFNα-RBV treatment of HCV infections.

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Genetic variants of the MRC1 gene and the IFNG gene are associated with leprosy in Han Chinese from Southwest China

Cited by 37 publications

References 39 publications

Genetic Variation in Pattern Recognition Receptors: Functional Consequences and Susceptibility to Infectious Disease

Genetic Variation in Pattern Recognition Receptors: Functional Consequences and Susceptibility to Infectious Disease

Common variants in the PARL and PINK1 genes increase the risk to leprosy in Han Chinese from South China

Association of MRC-1 and IL-28Bwith the treatment outcome of hepatitis C: a case control study

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