{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T08:43:54Z","timestamp":1772268234140,"version":"3.50.1"},"reference-count":30,"publisher":"PeerJ","license":[{"start":{"date-parts":[[2021,11,9]],"date-time":"2021-11-09T00:00:00Z","timestamp":1636416000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Guangxi Natural Science Foundation Program","award":["2018GXNSFAA281122"],"award-info":[{"award-number":["2018GXNSFAA281122"]}]},{"name":"Development and Application Project of Medical and Health in Guangxi Zhuang Autonomous Region","award":["S2017010"],"award-info":[{"award-number":["S2017010"]}]},{"name":"NSFC cultivation project of The Second affiliated hospital of Guangxi Medical University","award":["GJPY2018009"],"award-info":[{"award-number":["GJPY2018009"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"\n Background<\/jats:title>\n \n Microscopic polyangiitis (MPA) is a systemic autoimmune disease characterized by inflammation of small- and medium-sized blood vessels. Autophagy-related protein polymorphisms are involved in autoimmune disease. The aim of this study was to evaluate the effects of single-nucleotide polymorphisms (SNPs) in the\n ULK1<\/jats:italic>\n and\n PIK3CA<\/jats:italic>\n genes on the risk of MPA.\n <\/jats:p>\n <\/jats:sec>\n \n Method<\/jats:title>\n A total of 208 patients with MPA and 211 controls in the Guangxi Zhuang Autonomous Region were recruited and analyzed. The SNPs selected were detected by polymerase chain reaction and high-throughput sequencing. The differences in allele and genotype frequency, various genetic models, and stratification analyses were evaluated, haplotype evaluation was performed after linkage disequilibrium analysis, and the interaction between gene alleles was analyzed.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n A statistically significant difference was detected in the genotypic distribution of two SNPs between the two groups:\n ULK1<\/jats:italic>\n rs4964879<\/jats:ext-link>\n (\n p<\/jats:italic>\n = 0.019) and\n PIK3CA<\/jats:italic>\n rs1607237<\/jats:ext-link>\n (\n p<\/jats:italic>\n = 0.002). The results of the genetic models revealed that\n ULK1<\/jats:italic>\n rs4964879<\/jats:ext-link>\n and\n rs9481<\/jats:ext-link>\n were statistically significantly associated with an increased risk of MPA, whereas\n PIK3CA<\/jats:italic>\n rs1607237<\/jats:ext-link>\n was associated with a reduced risk. The association between SNPs and MPA risk was affected by age, sex, and ethnicity. The\n ULK1<\/jats:italic>\n haplotype (G-T-A-C-G-A) and\n PIK3CA<\/jats:italic>\n haplotype (T-G) were associated with a reduced risk of MPA, while the\n PIK3CA<\/jats:italic>\n haplotype (C-G) was associated with an increased risk.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n In this study, polymorphisms in the autophagy-related genes\n ULK1<\/jats:italic>\n and\n PIK3CA<\/jats:italic>\n and their association with MPA were examined. The results showed that the polymorphisms in\n ULK1<\/jats:italic>\n (\n rs4964879<\/jats:ext-link>\n and\n rs9481<\/jats:ext-link>\n ) and\n PIK3CA<\/jats:italic>\n (\n rs1607237<\/jats:ext-link>\n ) were significantly associated with MPA risk in the Guangxi population. However, the molecular mechanisms are still unclear; basic science research and studies with larger samples are needed to confirm our conclusions and explore the underlying mechanisms.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.7717\/peerj.12377","type":"journal-article","created":{"date-parts":[[2021,11,9]],"date-time":"2021-11-09T05:34:02Z","timestamp":1636436042000},"page":"e12377","source":"Crossref","is-referenced-by-count":5,"title":["Gene polymorphisms in\n ULK1<\/i>\n and\n PIK3CA<\/i>\n are associated with the risk of microscopic polyangiitis in the Guangxi Zhuang Autonomous Region in China"],"prefix":"10.7717","volume":"9","author":[{"given":"Yan","family":"Zhu","sequence":"first","affiliation":[{"name":"The Second Affiliated Hospital of Guangxi Medical University, Department of Nephrology, Nanning, Guangxi, China"},{"name":"The First Affiliated Hospital, Department of Nephrology, Hengyang Medical School, University of South China, Hengyang, Hunan, 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China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jingjing","family":"Lan","sequence":"additional","affiliation":[{"name":"The Second Affiliated Hospital of Guangxi Medical University, Department of Nephrology, Nanning, Guangxi, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao","family":"Xue","sequence":"additional","affiliation":[{"name":"The Second Affiliated Hospital of Guangxi Medical University, Department of Nephrology, Nanning, Guangxi, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Li","sequence":"additional","affiliation":[{"name":"The Second Affiliated Hospital of Guangxi Medical University, Department of Nephrology, Nanning, Guangxi, 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