CLEC16A—An Emerging Master Regulator of Autoimmunity and Neurodegeneration
Abstract
1. Introduction
2. CLEC16A (16p13)—An Autoimmune Candidate Gene
3. CLEC16A in Health and Diseases through GWAS
4. Biological Role of CLEC16A
4.1. Autophagy Regulation
4.2. Regulator of Mitophagy
5. CLEC16A in Neurodegeneration
6. Therapeutic Targeting of CLEC16A
7. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Disease | SNP | Localization | Cases/Controls/Trios | Subject Cohort | Reference | PubMed Link (Accessed on 27 April 2023) |
---|---|---|---|---|---|---|
Primary Adrenal Insufficiency (PAI) | rs12917716 | Intron 19 | 542/1220 | Norway, UK | [60] | https://www.ncbi.nlm.nih.gov/pubmed/18593762 |
rs12917716 | Intron 19 | 479/2394 | Sweden | [59] | https://pubmed.ncbi.nlm.nih.gov/29849176 | |
Allergic Rhinitis (AR) | rs7203459 | Intron 22 | 762/760 | Han Chinese | [81] | https://pubmed.ncbi.nlm.nih.gov/32082391 |
rs2286973 | Exon 19 | 995/1004 | Chinese population | [80] | https://pubmed.ncbi.nlm.nih.gov/36588789 | |
rs887864 | Intron 19 | |||||
rs12935657 | Intron 21 | |||||
rs11645657 | Intron 22 | |||||
rs36045143 | Intron 22 | |||||
Alopecia Areata (AA) | rs998592 | Intron 19 | 1702/1723 | European ancestry | [67] | https://www.ncbi.nlm.nih.gov/pubmed/22534877 |
rs3862469 | Intron 19 | 2332/5233 | European ancestry | [7] | www.ncbi.nlm.nih.gov/pubmed/25608926 | |
Asthma | rs62026376 | Intron 22 | 6685/14,091 | European ancestry | [103] | www.ncbi.nlm.nih.gov/pubmed/24388013 |
rs7203459 | Intron 22 | 28,399/128,843 | European ancestry | [79] | www.ncbi.nlm.nih.gov/pubmed/27182965 | |
rs9923856 | Intron 19 | 1750/9245 | African and European Americans | [78] | www.ncbi.nlm.nih.gov/pubmed/27611488 | |
rs62026377 | Intron 22 | |||||
rs17806299 | Intron 19 | 19,954/107,715 | European ancestry | [77] | www.ncbi.nlm.nih.gov/pubmed/29273806 | |
rs36045143 | Intron 22 | 39,770/76,768 | European ancestry | [76] | www.ncbi.nlm.nih.gov/pubmed/29785011 | |
rs12935657 | Intron 21 | 40,544/300,671 | European ancestry | [104] | www.ncbi.nlm.nih.gov/pubmed/30929738 | |
rs35441874 | Intron 19 | |||||
rs35032408 | Intron 20 | 21,564/318,237 | British ancestry | [75] | www.ncbi.nlm.nih.gov/pubmed/31036433 | |
rs7203459 | Intron 22 | 5135/25,675 | European ancestry | [74] | www.ncbi.nlm.nih.gov/pubmed/30552067 | |
rs35441874 | Intron 19 | 46,802/347,481 | European ancestry | [76] | www.ncbi.nlm.nih.gov/pubmed/31619474 | |
rs35441874 | Intron 19 | 56,167/352,255 | European ancestry | [73] | https://pubmed.ncbi.nlm.nih.gov/34103634 | |
Autoimmune Thyroid Diseases (ATD) | rs2903692 | Intron 22 | 330621 | Japanese | [42] | https://pubmed.ncbi.nlm.nih.gov/18940880 |
rs6498169 | Intron 22 | 667/301 | Chinese Han | [82] | https://www.ncbi.nlm.nih.gov/pubmed/24646814 | |
Celiac Disease | rs12928822 | intergenic | 4,533/10,700 | European populations | [85] | https://pubmed.ncbi.nlm.nih.gov/20190752 |
Common Variable Immunodeficiency (CVID) | rs17806056 | Intron 19 | 778/10,999 | Sweden, Norway, USA, UK, Germany | [83] | https://www.ncbi.nlm.nih.gov/pubmed/25891430 |
Crohn’s Disease (CD) | rs2903692 | Intron 22 | 1264/890 | Spain | [65] | https://www.ncbi.nlm.nih.gov/pubmed/19337309 |
Eosinophilic Esophagitis (EE) | rs12924112 | Intron 21 | 1214/3734 | European ancestry | [84] | https://pubmed.ncbi.nlm.nih.gov/29904099 |
Juvenile Idiopathic Arthritis (JIA) | rs6498169 | Intron 22 | 1318/2149 | Norway | [68] | https://www.ncbi.nlm.nih.gov/pubmed/19734133 |
Multiple Sclerosis (MS) | rs6498169 | Intron 22 | 2322/5418/1540 | European ancestry | [46] | www.ncbi.nlm.nih.gov/pubmed/17660530 |
rs6498169 | Intron 22 | 1146/1309 | Australia | [47] | https://www.ncbi.nlm.nih.gov/pubmed/18650830 | |
rs11865121 | Intron 19 | 2624/7220 | European ancestry | [49] | www.ncbi.nlm.nih.gov/pubmed/19525953 | |
rs725613 | Intron 19 | 1498/1706 | Sardinia | [35] | https://www.ncbi.nlm.nih.gov/pubmed/18946483 | |
rs12708716 | Intron 19 | 5737/10,296/ 2369 | Australia, Belgium, Norway, Sweden, UK, USA | [50] | https://www.ncbi.nlm.nih.gov/pubmed/18987646 | |
rs6498169 | Intron 19 | 1146/1309 | Europe | [51] | https://www.ncbi.nlm.nih.gov/pubmed/19375175 | |
rs6498146 | Intron 10 | |||||
rs741177 | Intron 18 | |||||
rs876476 | Intron 18 | |||||
rs11863016 | Intron 22 | |||||
rs9937607 | Intron 22 | |||||
rs6498169 | Intron 22 | 211/182 (+521 multiplex controls) | UK | [48] | https://www.ncbi.nlm.nih.gov/pubmed/19506219 | |
rs6498169 | Intron 22 | 1853/2128 | Holland, Canada | [105] | https://www.ncbi.nlm.nih.gov/pubmed/19834503 | |
rs6498169 | Intron 22 | 435/550 | Spain | [36] | https://www.ncbi.nlm.nih.gov/pubmed/19221398 | |
rs12708716 | Intron 19 | 918/656 | African Americans | [52] | https://www.ncbi.nlm.nih.gov/pubmed/19865102 | |
rs6498169 | Intron 22 | |||||
rs2080272 | Intron 19 | |||||
rs7200786 | Intron 19 | 9772/16,849 | European ancestry | [55] | www.ncbi.nlm.nih.gov/pubmed/21833088 | |
rs2041670 | Intron 19 | 603/825 | Europe | [53] | https://www.ncbi.nlm.nih.gov/pubmed/20849399 | |
rs998592 | Intron 19 | 197/197 | India | [54] | https://www.ncbi.nlm.nih.gov/pubmed/20952449 | |
rs12708716 | Intron 19 | |||||
rs12708716 | Intron 19 | 3102/5047/1113 | Norway, UK | [18] | https://www.ncbi.nlm.nih.gov/pubmed/21179112 | |
rs7206912 | Intron 22 | |||||
rs6498169 | Intron 22 | |||||
rs7184083 | Intron 22 | 1343/1379 | UK, US | [19] | https://www.ncbi.nlm.nih.gov/pubmed/21653641 | |
rs12927355 | Intron 19 | 14,498/24,091 | European ancestry | [56] | www.ncbi.nlm.nih.gov/pubmed/24076602 | |
rs4780346 | Intragenic region | |||||
rs6498168 | Intron 22 | 4888/10,395 | German ancestry | [57] | www.ncbi.nlm.nih.gov/pubmed/27386562 | |
rs6498160 | Intron 19 | 2273/2148 | Sardinian | [58] | www.ncbi.nlm.nih.gov/pubmed/28445677 | |
Parkinson’s Disease (PD) | rs7200786 | Intron 19 | 342/503 | European population | [87] | https://pubmed.ncbi.nlm.nih.gov/34149802 |
rs6498169 | Intron 22 | 515/504 | Han Chinese | [88] | https://pubmed.ncbi.nlm.nih.gov/35432448 | |
rs12708716 | Intron 19 | |||||
rs12917716 | Intron 19 | |||||
rs7200786 | Intron 19 | |||||
rs2903692 | Intron 19 | |||||
Primary Biliary Cirrhosis (PBC) | rs12924729 | Intron 19 | 2460/7677 | UK | [72] | www.ncbi.nlm.nih.gov/pubmed/21399635 |
rs12708715 | Intron 19 | 2861/8514 | British and Irish ancestry | [70] | www.ncbi.nlm.nih.gov/pubmed/22961000 | |
rs12708715 | Intron 19 | http://www.ncbi.nlm.nih.gov/pubmed/22961000 | ||||
rs58102322 | Intron 18 | 1450/2967 | Europe | [71] | https://www.ncbi.nlm.nih.gov/pubmed/22257840 | |
rs12924129 | Intron 19 | |||||
rs12924729 | Intron 19 | 2764/10,475 | European ancestry | [69] | www.ncbi.nlm.nih.gov/pubmed/26394269 | |
Rheumatoid Arthritis (RA) | rs6498169 | Intron 22 | 600/550 | Spain | [36] | https://www.ncbi.nlm.nih.gov/pubmed/19221398 |
rs6498169 | Intron 22 | 1318/2149 | Norway | [68] | https://www.ncbi.nlm.nih.gov/pubmed/19734133 | |
Selective IgA Deficiency | rs34069391 | Intron 19 | 1635/4852 | European ancestry | [66] | www.ncbi.nlm.nih.gov/pubmed/27723758 |
Systemic Lupus Erythematosus (SLE) | rs12599402 | Intron 19 | 1656/3394 | Han Chinese | [64] | www.ncbi.nlm.nih.gov/pubmed/23273568 |
rs7200786 | Intron 19 | 5201/9066 | European ancestry | [63] | www.ncbi.nlm.nih.gov/pubmed/26502338 | |
rs9652601 | Intron 19 | |||||
rs9652601 | Intron 19 | 5695/10,352 | Chinese and European ancestry | [62] | www.ncbi.nlm.nih.gov/pubmed/27399966 | |
rs9652601 | Intron 19 | 6748/11,516 | European ancestry | [61] | www.ncbi.nlm.nih.gov/pubmed/28714469 | |
rs2041670 | Intron 19 | |||||
rs8054198 | UTR | |||||
Systemic Sclerosis | rs1646066 | intergenic | 291/260 | African Americans | [86] | https://pubmed.ncbi.nlm.nih.gov/29293537 |
Type 1 Diabetes (T1D) | rs12708716 | Intron 19 | 2000/3000 | European ancestry | [34] | www.ncbi.nlm.nih.gov/pubmed/17554260 |
rs12708716 | Intron 19 | 1963/2938 | European ancestry | [32] | www.ncbi.nlm.nih.gov/pubmed/17554300 | |
rs725613 | Intron 19 | 1896/1146/873 | European ancestry | [1] | www.ncbi.nlm.nih.gov/pubmed/17632545 | |
rs2903692 | Intron 22 | |||||
rs17673553 | Intron 22 | |||||
rs12708716 | Intron 19 | 3561/4646 | European ancestry | [33] | www.ncbi.nlm.nih.gov/pubmed/18978792 | |
rs12708716 | Intron 19 | 7514/9045 | European ancestry | [43] | www.ncbi.nlm.nih.gov/pubmed/19430480 | |
rs2903692 | Intron 22 | 735/621 | Japan | [42] | https://www.ncbi.nlm.nih.gov/pubmed/18940880 | |
rs725613 | Intron 19 | 1037/1706 | Italy (Sardinia) | [35] | https://www.ncbi.nlm.nih.gov/pubmed/18946483 | |
rs725613 | Intron 19 | 205/422 | China (Han) | [39] | https://www.ncbi.nlm.nih.gov/pubmed/19178520 | |
rs6498169 | Intron 22 | 316/550 | Spain | [36] | https://pubmed.ncbi.nlm.nih.gov/19221398 | |
rs12708716 | Intron 19 | 1212/2513 | Germany | [41] | https://www.ncbi.nlm.nih.gov/pubmed/21873553 | |
rs2903692 | Intron 22 | 1743/790 | Japan | [40] | https://www.ncbi.nlm.nih.gov/pubmed/22069271 | |
rs12708716 | Intron 19 | 8506/10,596 | European ancestry | [44] | www.ncbi.nlm.nih.gov/pubmed/21829393 | |
rs12921922 | Intron 4 | 131/121 | China | [38] | https://www.ncbi.nlm.nih.gov/pubmed/22778732 | |
rs12931878 | Intron 1 | |||||
rs12927355 | Intron 19 | 6683/12,173/69 and 2601 affected sibling pair families | European ancestry | [45] | www.ncbi.nlm.nih.gov/pubmed/25751624 |
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Share and Cite
Pandey, R.; Bakay, M.; Hakonarson, H. CLEC16A—An Emerging Master Regulator of Autoimmunity and Neurodegeneration. Int. J. Mol. Sci. 2023, 24, 8224. https://doi.org/10.3390/ijms24098224
Pandey R, Bakay M, Hakonarson H. CLEC16A—An Emerging Master Regulator of Autoimmunity and Neurodegeneration. International Journal of Molecular Sciences. 2023; 24(9):8224. https://doi.org/10.3390/ijms24098224
Chicago/Turabian StylePandey, Rahul, Marina Bakay, and Hakon Hakonarson. 2023. "CLEC16A—An Emerging Master Regulator of Autoimmunity and Neurodegeneration" International Journal of Molecular Sciences 24, no. 9: 8224. https://doi.org/10.3390/ijms24098224
APA StylePandey, R., Bakay, M., & Hakonarson, H. (2023). CLEC16A—An Emerging Master Regulator of Autoimmunity and Neurodegeneration. International Journal of Molecular Sciences, 24(9), 8224. https://doi.org/10.3390/ijms24098224