{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T17:00:43Z","timestamp":1773334843270,"version":"3.50.1"},"reference-count":38,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T00:00:00Z","timestamp":1773100800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81970603"],"award-info":[{"award-number":["81970603"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["82100807"],"award-info":[{"award-number":["82100807"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Nephrolithiasis is a significant global health and economic challenge, with an increasing prevalence and a high recurrence rate. However, there is limited knowledge regarding the potential associations between calcium nephrolithiasis risk and Chinese Han populations currently. Methods: To identify the genetic factors for calcium nephrolithiasis, we presented a genome-wide association study (GWAS) using a total of 1006 calcium nephrolithiasis cases and 1200 controls of Chinese Han ethnicity. Suggestive loci (p &lt; 1.0 \u00d7 10\u22126) were replicated in 445 cases and 1008 controls. We also assessed the association of GWAS-level significant single-nucleotide polymorphisms (SNPs) with quantitative traits, including metabolic, kidney-related, and electrolyte traits. Results: Here we found three novel loci for calcium nephrolithiasis: SORBS2 on 4q35.1 (rs3736194; p = 2.84 \u00d7 10\u221213, OR = 0.6279), CXXC5 on 5q31.2 (rs356450; p = 6.09 \u00d7 10\u221216, OR = 2.0312), and MBD2 on 18q21.21 (rs55826947; p = 6.29 \u00d7 10\u221210, OR = 0.6017). Subsequent analyses revealed the association of SNP rs3736194 with higher serum carbon dioxide (p = 0.04666), rs356450 with lower serum chloride (p = 0.02992), and rs55826947 with higher BMI (p = 0.03174), respectively. Conclusions: We performed the first GWAS on calcium nephrolithiasis in a Chinese Han population cohort and identified three novel susceptibility loci on 4q35.1, 5q31.2, and 18q21.2. Further research into the molecular mechanisms underlying these variations in nephrolithiasis is warranted.<\/jats:p>","DOI":"10.3390\/genes17030313","type":"journal-article","created":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T14:45:39Z","timestamp":1773153939000},"page":"313","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Genome-Wide Association Study on Calcium Nephrolithiasis in Chinese Han Population Identifies Novel Susceptible Loci at 4q35.1, 5q31.2 and 18q21.2"],"prefix":"10.3390","volume":"17","author":[{"given":"Lujia","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Urology, Huashan Hospital & Institute of Urology, Fudan University, 12 Middle Wulumuqi Rd., Shanghai 200040, China"},{"name":"Clinical Research Center of Urolithiasis, Shanghai Medical College, Fudan University, Shanghai 200040, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zijian","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Urology, Huashan Hospital & Institute of Urology, Fudan University, 12 Middle Wulumuqi Rd., Shanghai 200040, China"},{"name":"Clinical Research Center of Urolithiasis, Shanghai Medical College, Fudan University, Shanghai 200040, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoling","family":"Lin","sequence":"additional","affiliation":[{"name":"Institute of Nephrology, Department of Nephrology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200040, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kangcheng","family":"Luo","sequence":"additional","affiliation":[{"name":"The First School of Clinical Medicine, Nanjing Medical University, Nanjing 211166, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peng","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Urology, Huashan Hospital & Institute of Urology, Fudan University, 12 Middle Wulumuqi Rd., Shanghai 200040, China"},{"name":"Clinical Research Center of Urolithiasis, Shanghai Medical College, Fudan University, Shanghai 200040, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7888-2344","authenticated-orcid":false,"given":"Deke","family":"Jiang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Organ Failure Research, Guangdong Key Laboratory of Viral Hepatitis Research, Department of Infectious Diseases and Hepatology Unit, Institutes of Liver Diseases Research of Guangdong Province, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China"},{"name":"Key Laboratory of Molecular Pathology in Tumors of Guangxi Higher Education Institutions, Department of Pathology, The Affiliated Hospital of Youjiang Medical University for Nationalities, Baise 533000, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5103-9517","authenticated-orcid":false,"given":"Zhong","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Urology, Huashan Hospital & Institute of Urology, Fudan University, 12 Middle Wulumuqi Rd., Shanghai 200040, China"},{"name":"Clinical Research Center of Urolithiasis, Shanghai Medical College, Fudan University, Shanghai 200040, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,3,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.eururo.2012.03.052","article-title":"Prevalence of kidney stones in the United States","volume":"62","author":"Scales","year":"2012","journal-title":"Eur. 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