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马来西亚患者的 VSX1 异构3 基因变异与角质之间的关联

Jenny P Deva¹, Yun F Ngeow¹, Thaw Zin¹

¹Faculty of Medicine and Health Sciences, Universiti Tunku Abdul Rahman, Sg Long, Malaysia.

Indian journal of ophthalmology

|June 16, 2023

概括

马来西亚人中VSX1 exon3基因的遗传变异与角质 (KC) 有关. 特定的变种,p.A182A和p.P237P,可能会增加KC风险,而p.R217H可能会提供保护.

科学领域:

眼科医生眼科眼科
遗传学遗传学是一个
分子生物学分子生物学

背景情况:

角膜 (KC) 是一种影响角膜形状的渐进性眼睛疾病.
遗传因素与KC的发展有关,但特定的基因关联需要进一步调查.
VSX1基因,特别是exon3,是KC易感性的潜在候选者.

研究的目的:

调查马来西亚人群中特定的VSX1 exon3基因变体与角质之间的关联.
识别可能有助于或防止角发育的遗传标记物.

主要方法:

采用了一种病例控制研究设计.
参与者包括42名角患者,127名家庭成员对照和96名正常对照.
对三个VSX1外子3变体进行了基因定型:p.A182A,p.P237P和p.R217H.

主要成果:

基因变异p.A182A和p.P237P与角质显著相关 (P <0.05).
与对照组相比,这些变异在角质病例中更为普遍 (异常比率[OR] 3.14-4.05).
p.R217H变种在病例中患病率较低 (OR 0.086-1.59),表明具有保护作用. 在p.A182A和p.P237P之间观察到链接不平衡.

结论:

在马来西亚人中,VSX1外型3变体p.A182A和p.P237P可能会导致角发育,并且很可能是共同遗传的.
这种p.R217H变种似乎对角质有保护作用.
这些发现突出了VSX1外型3变体在形的遗传病因学中的作用.

关键词:

基因变体的基因变体在VSX1VSX1 形 (keratoconus) 是一种形.基因风险因子基因风险因子

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