Correlation between MTHFR gene C677T polymorphism，Hcy，one-carbon metabolism related B vitamins and gestational diabetes mellitus

doi:10.3969/j.issn.1673-8640.2026.07.009

Abstract

Abstract:

Objective To investigate the correlation between the C677T polymorphism of methylene tetrahydrofolate reductase（MTHFR） gene，homocysteine（Hcy） and one-carbon metabolism related B vitamins [vitamin B₆（Vit B₆），vitamin B₉（folic acid） and vitamin B₁₂（Vit B₁₂）] and gestational diabetes mellitus（GDM）. Methods A total of 651 pregnant women who conceived naturally at the Obstetrics and Gynecology Hospital of Fudan University from January 2023 to January 2024 were enrolled and classified into GDM group（92 cases） and control group（559 cases） based on whether they were diagnosed with GDM. The C677T polymorphism of MTHFR gene and Hcy，Vit B₆，folic acid and Vit B₁₂ levels were determined. Binary multivariate Logistic regression analysis was used to evaluate the risk factors for the occurrence of GDM. Results The proportions of C677T CT and TT genotypes and the T allele in GDM group were higher than those in control group（P<0.05）. The serum Hcy and folic acid levels in GDM group were higher than those in control group（P<0.05）. The serum Hcy level in TT genotype pregnant women in GDM group was higher than those in CC and CT genotype pregnant women（P<0.05），and there was no statistical significance in serum Hcy levels between CC and CT genotype pregnant women（P>0.05）. The serum Hcy level in CC genotype pregnant women in control group was lower than those in CT and TT genotype pregnant women（P<0.001），and there was no statistical significance in serum Hcy levels between CT and TT genotype pregnant women（P>0.05）. Elevated Hcy and folic acid were independent risk factors for the occurrence of GDM [odds ratios（OR） were 1.293 and 1.160，95% confidence intervals（CI） were 1.014-1.649 and 1.041-1.294，respectively，P<0.05]. Conclusions Serum Hcy and folic acid levels affected by the C677T polymorphism of MTHFR gene are related to the occurrence of GDM. The determination of the MTHFR gene C677T polymorphism is helpful for the prevention and management of GDM.

Key words: Methylene tetrahydrofolate reductase, Gene polymorphism, Homocysteine, One-carbon metabolism related B vitamin, Gestational diabetes mellitus

CLC Number:

Q554

WANG Qiang, LU Loukaiyi, LUO Xufan, CHEN Yisheng. Correlation between MTHFR gene C677T polymorphism，Hcy，one-carbon metabolism related B vitamins and gestational diabetes mellitus[J]. Laboratory Medicine, 2026, 41(7): 670-675.

Figures/Tables 5

References 35

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组别	例数	基因型分布			等位基因频率
组别	例数	CC/[例（%）]	CT/[例（%）]	TT/[例（%）]	C/[例（%）]	T/[例（%）]
GDM组	92	17（18.48）	52（56.52）	23（25.00）	86（46.74）	98（53.26）
对照组	559	180（32.20）	264（47.23）	115（20.57）	624（55.81）	494（44.19）
统计值		7.052			5.248
P值		0.029			0.025

组别	例数	基因型分布			等位基因频率
组别	例数	CC/[例（%）]	CT/[例（%）]	TT/[例（%）]	C/[例（%）]	T/[例（%）]
GDM组	92	17（18.48）	52（56.52）	23（25.00）	86（46.74）	98（53.26）
对照组	559	180（32.20）	264（47.23）	115（20.57）	624（55.81）	494（44.19）
统计值		7.052			5.248
P值		0.029			0.025

组别	例数	学历		孕次			产次		流产史/例
组别	例数	本科以下/例	本科及以上/例	<3次/例	≥3次/例		<2次/例	≥2次/例	流产史/例
GDM组	92	20	72	79	13		92	0	25
对照组	559	97	462	502	57		555	4	124
统计值		1.031		1.274			0.662		1.115
P值		0.307		0.275			1.000		0.287
组别	年龄/岁	孕周/周	Hcy/（μmol·L^-1）	Vit B₆ /（nmol·L^-1）		叶酸/（nmol·L^-1）		Vit B₁₂/（pmol·L^-1）
GDM组	30.73±2.63	26.08±0.96	6.08±0.86	90.32±27.14		14.47±2.66		273.65±88.57
对照组	30.36±2.45	25.96±0.88	5.84±0.88	86.49±32.96		13.89±1.81		291.56±84.08
统计值	-1.323	-1.148	-2.372	-1.056		-2.016		1.879
P值	0.186	0.251	0.018	0.291		0.046		0.061

组别	例数	学历		孕次			产次		流产史/例
组别	例数	本科以下/例	本科及以上/例	<3次/例	≥3次/例		<2次/例	≥2次/例	流产史/例
GDM组	92	20	72	79	13		92	0	25
对照组	559	97	462	502	57		555	4	124
统计值		1.031		1.274			0.662		1.115
P值		0.307		0.275			1.000		0.287
组别	年龄/岁	孕周/周	Hcy/（μmol·L^-1）	Vit B₆ /（nmol·L^-1）		叶酸/（nmol·L^-1）		Vit B₁₂/（pmol·L^-1）
GDM组	30.73±2.63	26.08±0.96	6.08±0.86	90.32±27.14		14.47±2.66		273.65±88.57
对照组	30.36±2.45	25.96±0.88	5.84±0.88	86.49±32.96		13.89±1.81		291.56±84.08
统计值	-1.323	-1.148	-2.372	-1.056		-2.016		1.879
P值	0.186	0.251	0.018	0.291		0.046		0.061

组别	例数	Hcy/（μmol·L^-1）	叶酸/（nmol·L^-1）	Vit B₆ /（nmol·L^-1）	Vit B₁₂ /（pmol·L^-1）
GDM组	92
CC型	17	5.86±0.62	14.65±2.92	86.19±29.22	287.09±93.93
CT型	52	5.98±0.72	14.45±2.54	90.96±27.76	278.43±89.84
TT型	23	6.47±1.18^*	14.36±2.83	91.91±24.95	252.90±81.70
F值		3.420	0.060	0.247	0.901
P值		0.037	0.941	0.782	0.410
对照组	559
CC型	180	5.61±0.77	13.89±1.80	88.50±34.97	289.18±88.40
CT型	264	5.93±0.88^*	13.83±1.84	84.07±31.23	296.21±79.52
TT型	115	6.02±0.97^*	14.02±1.76	88.89±33.52	284.60±87.42
F值		9.982	0.465	1.351	0.869
P值		<0.001	0.629	0.260	0.420