{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T12:29:25Z","timestamp":1772108965369,"version":"3.50.1"},"reference-count":42,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,10,1]]},"abstract":"<jats:sec>\n<jats:title>OBJECTIVE<\/jats:title>\n<jats:p>This study aimed to investigate whether high homocysteine (Hcy) levels associated with the <jats:italic>MTHFR<\/jats:italic> gene influence the formation of the collateral vascular network in patients with moyamoya disease (MMD) after encephaloduroarteriosynangiosis (EDAS) by influencing the number of endothelial progenitor cells (EPCs) in peripheral blood.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>METHODS<\/jats:title>\n<jats:p>A total of 118 Chinese patients with bilateral primary MMD were prospectively included. Blood samples were collected from the anterior cubital vein before surgery, and <jats:italic>MTHFR rs9651118<\/jats:italic> was genotyped using high-throughput mass spectrometry to determine the genotype of the test specimen. Serum Hcy and EPC levels were measured, the latter with flow cytometry. Digital subtraction angiography was performed 6 months after EDAS, and the formation of collateral circulation was evaluated using the Matsushima grade system. The correlations between <jats:italic>MTHFR rs9651118<\/jats:italic> genotype, Hcy and EPC levels, and Matsushima grade were compared.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>RESULTS<\/jats:title>\n<jats:p>Among the 118 patients, 53 had the TT genotype (wild type) of <jats:italic>MTHFR rs9651118<\/jats:italic>, 33 TC genotype (heterozygous mutation), and 32 CC genotype (homozygous mutation). The mean \u00b1 SD Hcy level was 13.4 \u00b1 9.5 \u03bcmol\/L in TT patients, 9.8 \u00b1 3.2 \u03bcmol\/L in TC patients, and 8.9 \u00b1 2.9 \u03bcmol\/L in CC patients (p &lt; 0.001). The level of EPCs in the venous blood of TT patients was 0.039% \u00b1 0.016%, that of TC patients 0.088% \u00b1 0.061%, and that of CC patients 0.103% \u00b1 0.062% (p &lt; 0.001). When the <jats:italic>rs9651118<\/jats:italic> gene locus was mutated, Matsushima grade was better (p &lt; 0.001) but there was no difference between heterozygous and homozygous mutations.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>CONCLUSIONS<\/jats:title>\n<jats:p>The results suggest that the <jats:italic>MTHFR rs9651118<\/jats:italic> polymorphism is a good biomarker for collateral vascular network formation after EDAS in MMD patients.<\/jats:p>\n<\/jats:sec>","DOI":"10.3171\/2024.1.jns232121","type":"journal-article","created":{"date-parts":[[2024,4,6]],"date-time":"2024-04-06T00:41:02Z","timestamp":1712364062000},"page":"936-944","source":"Crossref","is-referenced-by-count":3,"title":["Association between polymorphism in the MTHFR gene and encephaloduroarteriosynangiosis-induced collateral circulation formation"],"prefix":"10.3171","volume":"141","author":[{"given":"Gan","family":"Gao","sequence":"first","affiliation":[{"name":"Chinese PLA Medical School, Beijing, China;"},{"name":"Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiang-Yang","family":"Bao","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian-Nan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao-Peng","family":"Wang","sequence":"additional","affiliation":[{"name":"Chinese PLA Medical School, Beijing, China;"},{"name":"Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang-Bin","family":"Hao","sequence":"additional","affiliation":[{"name":"Chinese PLA Medical School, Beijing, China;"},{"name":"Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Si-Meng","family":"Liu","sequence":"additional","affiliation":[{"name":"Chinese PLA Medical School, Beijing, China;"},{"name":"Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min-Jie","family":"Wang","sequence":"additional","affiliation":[{"name":"Chinese PLA Medical School, Beijing, China;"},{"name":"Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing-Bao","family":"Guo","sequence":"additional","affiliation":[{"name":"Chinese PLA Medical School, Beijing, China;"},{"name":"Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing-Jie","family":"Li","sequence":"additional","affiliation":[{"name":"Chinese PLA Medical School, Beijing, China;"},{"name":"Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lian","family":"Duan","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"issue":"12","key":"b1","series-title":"N Engl J Med","first-page":"1226","article-title":"Moyamoya disease and moyamoya syndrome","volume":"360","author":"Scott RM","year":"2009","unstructured":"Scott RM, Smith ER. 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