SLC2A3 变体在云南汉族人群的家族性和散发性先天性心脏病中的作用。
SLC2A3 variants in familial and sporadic congenital heart diseases in a Chinese Yunnan population.
机构信息
Faculty of Life Science and Technology, Kunming University of Science and Technology, Kunming, China.
Department of Endocrinology, The First People's Hospital of Yunnan Province, Kunming, China.
出版信息
J Clin Lab Anal. 2022 Jun;36(6):e24456. doi: 10.1002/jcla.24456. Epub 2022 Apr 25.
BACKGROUND
Solute carrier family 2 member 3 (SLC2A3), is a member of a superfamily of transport protein genes. SLC2A3 played an important role in embryonic development. Previous research reported SLC2A3 duplication was reportedly associated with congenital syndromic heart defects. However, it is not clear whether the gene is associated with non-syndromic congenital heart disease. Our study aimed to elucidate the relationship between its variation and congenital heart disease.
METHODS
Genomic DNA extracted from the peripheral blood leukocytes of two families with CHD were sequenced with whole-exome sequencing to identify variations, used Sanger sequencing to investigate SLC2A3 variants in 494 Chinese patients with CHD and 576 healthy unrelated individuals.
RESULTS
In members from the two families, three with CHD had the SLC2A3 (rs3931701) C > T variant. Of the 494 patients with CHD, 394 had gene variants (86 had the TT type and 308 had the CT type). Of the 576 healthy controls, 272 participants had gene variants (36 had the TT type and 236 had the CT type). The TT type [p < 0.0001, odds ratio (OR) =7.262, 95% confidence interval (CI) =4.631-11.388] and CT type (p < 0.0001, OR =3.967, 95% CI =2.991-5.263) of SLC2A3 (rs3931701) significantly increased the risk of sporadic ASD in a Chinese Yunnan population.
CONCLUSIONS
Single nucleotide variations of SLC2A3, particularly, the SLC2A3 (rs3931701) C > T variant increased the risk of CHD among the studied population.
背景
溶质载体家族 2 成员 3（SLC2A3）是转运蛋白基因超家族的成员。SLC2A3 在胚胎发育中起着重要作用。先前的研究报道 SLC2A3 重复与先天性综合征性心脏缺陷有关。然而，目前尚不清楚该基因是否与非综合征性先天性心脏病有关。本研究旨在阐明其变异与先天性心脏病之间的关系。
方法
用全外显子组测序对来自两个 CHD 家族的外周血白细胞基因组 DNA 进行测序，以鉴定变异；用 Sanger 测序对 494 例 CHD 患者和 576 例健康无关个体的 SLC2A3 变异进行研究。
结果
在两个家族的成员中，有 3 例 CHD 患者存在 SLC2A3（rs3931701）C>T 变异。在 494 例 CHD 患者中，有 394 例存在基因突变（TT 型 86 例，CT 型 308 例）。在 576 例健康对照中，有 272 例存在基因突变（TT 型 36 例，CT 型 236 例）。TT 型（p<0.0001，优势比（OR）=7.262，95%置信区间（CI）=4.631-11.388）和 CT 型（p<0.0001，OR=3.967，95%CI=2.991-5.263）的 SLC2A3（rs3931701）显著增加了中国云南人群散发性 ASD 的发病风险。
结论
SLC2A3 的单核苷酸变异，特别是 SLC2A3（rs3931701）C>T 变异增加了研究人群 CHD 的风险。
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