Gender difference in the association of OSBPL8 polymorphisms with nephrolithiasis within a Chinese cohort.

IF 2.6 3区生物学 Q2 GENETICS & HEREDITY Gene Pub Date : 2025-01-04 DOI:10.1016/j.gene.2025.149218

Haisong Lin, Suchun Wei, Shengzhu Huang, Zhen Tang, Zengnan Mo

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Abstract

Background: Kidney stone disease (KSD) is a common disorder of the urinary system and is closely related to genetic polymorphisms. However, the relationship between OSBPL8 polymorphisms and kidney stones has not been thoroughly investigated.

Methods: Six OSBPL8 polymorphisms (rs17042391,rs17042409,rs4761431,rs7303892,rs4761434, and rs17042390) were analyzed in a Chinese case-control cohort containing 923 nephrolithiasis patients and 945 healthy controls.The association of these OSBPL8 gene polymorphisms with KSD susceptibility was analyzed using logistic regression, and examined by calculating the odds ratios (ORs) and 95% confidence intervals (CIs).

Results: The OSBPL8 polymorphisms (GG for rs17042391, rs17042409, rs4761431, rs7303892; AA for rs4761434; and G for rs17042390) were significantly associated with a decreased risk of KSD in females.The protected alleles (G allele of rs17042391, G allele of rs17042409, G allele of rs4761431, A allele of rs4761434, and G allele of rs17042390) were related to decreased BMI levels in KSD patients; female patients with these alleles also exhibited lower BMI, HDL, and LDL levels,the G allele of rs7303892 was linked to reduced serum cholesterol levels in these females.Additionally, the haplotype ACAAGA was associated with decreased KSD risk in females, but haplotype GGGGAG presented an opposing effect.

Conclusion: Our research shows that the OSBPL8 gene polymorphisms reduced the risk of KSD in females, and were also associated with lipid-related metabolic traits.

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中国队列中OSBPL8多态性与肾结石相关性的性别差异

背景：肾结石病（KSD）是泌尿系统常见疾病，与遗传多态性密切相关。然而，OSBPL8多态性与肾结石之间的关系尚未得到深入研究。方法：对中国923例肾结石患者和945例健康对照者的6个OSBPL8多态性（rs17042391、rs17042409、rs4761431、rs7303892、rs4761434和rs17042390）进行分析。使用逻辑回归分析这些OSBPL8基因多态性与KSD易感性的关系，并通过计算比值比（ORs）和95%置信区间（CIs）进行检验。结果：rs17042391、rs17042409、rs4761431、rs7303892的OSBPL8多态性（GG）；AA适用于rs4761434；G （rs17042390）与女性KSD风险降低显著相关。受保护等位基因（rs17042391的G等位基因、rs17042409的G等位基因、rs4761431的G等位基因、rs4761434的A等位基因和rs17042390的G等位基因）与KSD患者BMI水平降低有关；具有这些等位基因的女性患者也表现出较低的BMI、HDL和LDL水平，rs7303892的G等位基因与这些女性血清胆固醇水平降低有关。此外，单倍型ACAAGA与女性KSD风险降低相关，而单倍型GGGGAG则表现出相反的效果。结论：我们的研究表明OSBPL8基因多态性降低了女性KSD的风险，并且与脂质相关的代谢性状有关。

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来源期刊

Gene 生物-遗传学

CiteScore

6.10

自引率

2.90%

发文量

718

审稿时长

42 days

期刊介绍： Gene publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses.