Mendelian randomization analysis of sulcal morphology and osteonecrosis risk

doi:10.3877/cma.j.issn.1674-134X.2025.05.008

Abstract

Abstract:

Objective

To investigate the causal relationship between sulcal morphology (specifically sulcal depth and opening distance) and osteonecrosis through Mendelian randomization analysis, thereby providing new perspectives for research on osteonecrosis pathogenesis and early screening of high-risk populations.

Methods

A two-sample Mendelian randomization design was employed, using genetic variants associated with sulcal depth as instrumental variables. Data were derived from large-scale GWAS datasets in the NHGRI-EBI and FinnGen repositories. The primary analysis was conducted using the inverse variance-weighted (IVW) method, with sensitivity analyses to validate the robustness of the findings.

Results

Among 44 sulcal features analyzed, only the sulcal opening depth of the right anterior inferior temporal sulcus was significantly associated with osteonecrosis, showing a negative causal relationship [odds ratio (OR) =0.348, 95% confidence interval (CI) (0.143, 0.847), P=0.020]. Other sulcal features demonstrated no statistically significant associations (all P>0.05).

Conclusion

There might be a causal link between the sulcal depth of the right anterior inferior temporal sulcus and osteonecrosis, which suggests sulcal depth as a potential biomarker for osteonecrosis screening in at-risk population.

Key words: Cerebral cortex, Osteonecrosis, Mendelian randomization, Causality

Xintao Liu, Lijuan Song, Guojun Liang, Yixi Yang, Liu Chen. Mendelian randomization analysis of sulcal morphology and osteonecrosis risk[J]. Chinese Journal of Joint Surgery(Electronic Edition), 2025, 19(05): 580-585.

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References 33

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结局Outcom	暴露Exposure	ID	分析方法Methods	SNPs	β值	SE	OR（95%CI）	P值
骨坏死Osteonecrosis	右侧前下颞沟的沟开口距离	GCST90104947	IVW	15	-1.055	0.453	0.3481（0.143，0.847）	<0.05
			BWMR		-1.085	0.478	0.338（0.132，0.862）	<0.05
			RAPS		-1.074	0.498	0.342（0.129，0.907）	<0.05
			DIVW		-1.101	0.478	0.333（0.130，0.849）	<0.05

结局Outcom	暴露Exposure	ID	分析方法Methods	SNPs	β值	SE	OR（95%CI）	P值
骨坏死Osteonecrosis	右侧前下颞沟的沟开口距离	GCST90104947	IVW	15	-1.055	0.453	0.3481（0.143，0.847）	<0.05
			BWMR		-1.085	0.478	0.338（0.132，0.862）	<0.05
			RAPS		-1.074	0.498	0.342（0.129，0.907）	<0.05
			DIVW		-1.101	0.478	0.333（0.130，0.849）	<0.05

结局Outcome	暴露Exposure	ID	异质性检验Heterogeneity test				水平多效性测试Horizontal pleiotropic test			MR-PRESSO
结局Outcome	暴露Exposure	ID	方法Methods	Q	Q_df	Q_pval	Egger截距Egger intercept	SE	P值	全局测试P值P of global test
骨坏死Osteonecros-is	右侧前下颞沟的沟开口距离	GCST90104947	MR Egger	7.745	13	0.860	-0.001	0.026	0.955	0.9200
骨坏死Osteonecros-is	右侧前下颞沟的沟开口距离	GCST90104947	IVW	7.749	14	0.902	-0.001	0.026	0.955	0.9200

结局Outcome	暴露Exposure	ID	异质性检验Heterogeneity test				水平多效性测试Horizontal pleiotropic test			MR-PRESSO
结局Outcome	暴露Exposure	ID	方法Methods	Q	Q_df	Q_pval	Egger截距Egger intercept	SE	P值	全局测试P值P of global test
骨坏死Osteonecros-is	右侧前下颞沟的沟开口距离	GCST90104947	MR Egger	7.745	13	0.860	-0.001	0.026	0.955	0.9200
骨坏死Osteonecros-is	右侧前下颞沟的沟开口距离	GCST90104947	IVW	7.749	14	0.902	-0.001	0.026	0.955	0.9200

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