基因变体rs255758使印度西北部人群易患类风湿性关节炎。
Gene Variant rs255758 Provides Susceptibility to Rheumatoid Arthritis in Northwest Indian Population.
作者信息
Sandhu Inder Mohan Singh, Singh Hemender, Kaur Simranpreet, Rai Ekta, Mahajan Anupama, Mohan Gurinder, Sharma Swarkar
机构信息
Department of Genetics, Sri Guru Ram Das Institute of Medical Sciences and Research, SGRDUHS, Amritsar, Punjab, India.
Human Genetics Research Group, School of Biotechnology, Shri Mata Vaishno Devi University, Katra, Jammu and Kashmir, India.
出版信息
Int J Appl Basic Med Res. 2025 Jan-Mar;15(1):38-42. doi: 10.4103/ijabmr.ijabmr_156_24. Epub 2025 Jan 9.
INTRODUCTION
Rheumatoid arthritis (RA) is a systemic, chronic, and inflammatory autoimmune disease with a strong genetic component. gene variant rs255758 has been reported as a candidate for RA susceptibility. A replication study was performed on this variant by taking 188 RA cases and 310 healthy non-RA controls from northwest India in a case-control association study design.
MATERIALS AND METHODS
DNA isolated from collected blood samples was analyzed by genotyping of the variant on real-time polymerase chain reaction using TaqMan Allele Discrimination Assay and statistically analyzed.
RESULTS
The variant was found to follow Hardy-Weinberg Equilibrium ( = 0.079) in the control group. The variant was significantly associated with RA susceptibility in the present studied population cohort ( = 0.024) with as a risk allele and increased risk in the recessive model ( vs. + ; = 0.004).
CONCLUSION
The present study corroborates the earlier findings on the role of gene variant rs255758 in RA and further contributes to its genetic etiology.
引言
类风湿性关节炎（RA）是一种具有强烈遗传成分的全身性、慢性炎症性自身免疫疾病。基因变体rs255758已被报道为RA易感性的候选基因。在一项病例对照关联研究设计中，从印度西北部选取了188例RA病例和310名健康非RA对照，对该变体进行了复制研究。
材料与方法
使用TaqMan等位基因鉴别分析通过实时聚合酶链反应对从采集的血样中分离的DNA进行该变体的基因分型分析，并进行统计学分析。
结果
在对照组中发现该变体符合哈迪-温伯格平衡（P = 0.079）。在本研究的人群队列中，该变体与RA易感性显著相关（P = 0.024），其中作为风险等位基因，在隐性模型中风险增加（与+；P = 0.004）。
结论
本研究证实了先前关于基因变体rs255758在RA中的作用的发现，并进一步为其遗传病因学做出了贡献。
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