
浏览全部资源
扫码关注微信
1.陆军军医大学(第三军医大学)军事预防医学系军队流行病学教研室,重庆
2.西部战区总医院疾病预防控制科,四川成都
3.西南医科大学公共卫生学院,四川泸州
MA Xiangyu,E-mail:xymacq@tmmu.edu.cn
收稿日期:2024-12-10,
修回日期:2025-02-19,
纸质出版日期:2025-03-30
移动端阅览
袁梦,蔡漾,房晓渝,等.Rab37基因多态性与月经初潮延迟的关联研究[J].陆军军医大学学报,2025,47(06):623-628.DOI:10.16016/j.2097-0927.202412046.
YUAN M,CAI Y,FANG X Y,et al.Association of Rab37 gene polymorphism and delayed menarche: a report of 2 060 women[J].J Army Med Univ,2025,47(06):623-628.DOI:10.16016/j.2097-0927.202412046.
袁梦,蔡漾,房晓渝,等.Rab37基因多态性与月经初潮延迟的关联研究[J].陆军军医大学学报,2025,47(06):623-628.DOI:10.16016/j.2097-0927.202412046. DOI:
YUAN M,CAI Y,FANG X Y,et al.Association of Rab37 gene polymorphism and delayed menarche: a report of 2 060 women[J].J Army Med Univ,2025,47(06):623-628.DOI:10.16016/j.2097-0927.202412046. DOI:
目的
2
探究
Rab37
基因的单核苷酸多态性(single nucleotide polymorphism, SNP)与月经初潮年龄(age at menarche, AAM)的关联。
方法
2
本研究采用病例对照研究设计,对江苏省句容市某社区的2 060名女性进行流行病学调查,并采集静脉血样。使用ASA芯片对血样DNA进行
Rab37
基因分型,获得参与者的SNP rs62084865、rs10512597、rs35489971、rs1037170、rs6501732、rs77822106、rs3178300分型结果。根据月经初潮时间
<
16周岁和≥16周岁将参与者分成2组。通过线性回归分析和Logistic回归分析,采用显性模型、隐性模型和等位基因模型,探索
Rab37
基因的多态性与月经初潮时间的关联性。
结果
2
在2 060名健康女性中,944名女性月经时间正常,1 116名女性出现月经初潮延迟。线性回归分析结果显示rs3178300的基因多态性与女性月经初潮时间呈负相关[隐性模型:CC/CT+TT,β=-0.915,95%
CI
(-1.692,-0.137),
P
=0.021;等位基因模型:T/C,β=-0.221,95%
CI
(-0.410,-0.032),
P
=0.022]。Logistic回归分析结果显示rs3178300的基因多态性与女性月经初潮推迟风险显著相关[隐性模型:CC/CT+TT,
OR
=0.295,95%
CI
(0.116,0.751),
P
=0.010;等位基因模型:T/C,
OR
=0.796,95%
CI
(0.652,0.972),
P
=0.025]。其余的6个SNP与月经初潮年龄的关联不显著。
结论
2
Rab37
基因的rs3178300多态性与中国女性的月经初潮延迟显著相关。
Objective To explore the association between single nucleotide polymorphism (SNP) of
Rab37
gene and the age at menarche(AAM). Methods A case-control study design was used to conduct an epidemiologic survey on 2 060 women in a community in Jurong City
Jiangsu Province
and their venous blood samples were collected. ASA chip was used to explore the
Rab37
gene genotyping of blood sample DNA to obtain the genotyping results for
Rab37
SNPs rs62084865
rs10512597
rs35489971
rs1037170
rs6501732
rs77822106
and rs3178300. Based on menarche time of
<
16 years old or ≥16 years old
the participants were divided into 2 groups. Linear and logistic regression analyses were used to explore the association between the SNP of
Rab37
gene and the age at menarche based on dominant
recessive and allelic models. Results Among the 2 060 healthy women
944 women had normal menstrual periods
while 1 116 women experienced delayed menarche. Linear regression analysis showed that the gene polymorphism of rs3178300 was negatively correla
ted with the age at menarche in females [recessive model: CC/CT+TT
β=-0.915
95%
CI
(-1.692
-0.137)
P
=0.021; allelic model: T/C
β=-0.221
95%
CI
(-0.410
-0.032)
P
=0.022
]
. Logistic regression analysis indicated that the gene polymorphism of rs3178300 was significantly associated with the risk of delayed menarche in females [recessive model: CC/CT+TT
OR
=0.295
95%
CI
(0.116
0.751)
P
=0.010; allelic model: T/C
OR
=0.796
95%
CI
(0.652
0.972)
P
=0.025
]
. The remaining 6 SNPs showed no significant association with age at menarche. Conclusion The rs3178300 polymorphism of Rab37 gene is significantly associated with delayed menarche in Chinese women.
ABREU A P , KAISER U B . Pubertal development and regulation [J]. Lancet Diabetes Endocrinol , 2016 , 4 ( 3 ): 254 - 264 . DOI: 10.1016/S2213-8587(15)00418-0 http://dx.doi.org/10.1016/S2213-8587(15)00418-0 .
GILL D , SHEEHAN N A , WIELSCHER M , et al . Age at menarche and lung function: a Mendelian randomization study [J]. Eur J Epidemiol , 2017 , 32 ( 8 ): 701 - 710 . DOI: 10.1007/s10654-017-0272-9 http://dx.doi.org/10.1007/s10654-017-0272-9 .
DAY F R , THOMPSON D J , HELGASON H , et al . Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk [J]. Nat Genet , 2017 , 49 ( 6 ): 834 - 841 . DOI: 10.1038/ng.3841 http://dx.doi.org/10.1038/ng.3841 .
SHIM Y S , LEE H S , HWANG J S . Genetic factors in precocious puberty [J]. Clin Exp Pediatr , 2022 , 65 ( 4 ): 172 - 181 . DOI: 10.3345/cep.2021.00521 http://dx.doi.org/10.3345/cep.2021.00521 .
CHIOU J S , LIN Y J , CHANG C Y , et al . Menarche—a journey into womanhood: age at menarche and health-related outcomes in east asians [J]. Hum Reprod , 2024 , 39 ( 6 ): 1336 - 1350 . DOI: 10.1093/humrep/deae060 http://dx.doi.org/10.1093/humrep/deae060 .
WANG Z F , ASOKAN G , ONNELA J P , et al . Menarche and time to cycle regularity among individuals born between 1950 and 2005 in the US [J]. JAMA Netw Open , 2024 , 7 ( 5 ): e2412854 . DOI: 10.1001/jamanetworkopen.2024.12854 http://dx.doi.org/10.1001/jamanetworkopen.2024.12854 .
PFEFFER S R . Rab GTPase regulation of membrane identity [J]. Curr Opin Cell Biol , 2013 , 25 ( 4 ): 414 - 419 . DOI: 10.1016/j.ceb.2013.04.002 http://dx.doi.org/10.1016/j.ceb.2013.04.002 .
MASUDA E S , LUO Y , YOUNG C , et al . Rab37 is a novel mast cell specific GTPase localized to secretory granules [J]. FEBS Lett , 2000 , 470 ( 1 ): 61 - 64 . DOI: 10.1016/s0014-5793(00)01288-6 http://dx.doi.org/10.1016/s0014-5793(00)01288-6 .
KUO W T , KUO I Y , HSIEH H C , et al . Rab37 mediates trafficking and membrane presentation of PD-1 to sustain T cell exhaustion in lung cancer [J]. J Biomed Sci , 2024 , 31 ( 1 ): 20 . DOI: 10.1186/s12929-024-01009-6 http://dx.doi.org/10.1186/s12929-024-01009-6 .
XU X , HU M X , YING R H , et al . RAB37-mediated autophagy guards ovarian homeostasis and function [J]. Autophagy , 2024 , 20 ( 12 ): 2738 - 2751 . DOI: 10.1080/15548627.2024.2389568 http://dx.doi.org/10.1080/15548627.2024.2389568 .
CHENG Y , LIU M , LIU Y , et al . Chronic kidney disease: prevalence and association with handgrip strength in a cross-sectional study [J]. BMC Nephrol , 2021 , 22 ( 1 ): 246 . DOI: 10.1186/s12882-021-02452-5 http://dx.doi.org/10.1186/s12882-021-02452-5 .
ANDERSON C A , PETTERSSON F H , CLARKE G M , et al . Data quality control in genetic case-control association studies [J]. Nat Protoc , 2010 , 5 ( 9 ): 1564 - 1573 . DOI: 10.1038/nprot.2010.116 http://dx.doi.org/10.1038/nprot.2010.116 .
VAN LEEUWEN E M , KANTERAKIS A , DEELEN P , et al . Population-specific genotype imputations using minimac or IMPUTE2 [J]. Nat Protoc , 2015 , 10 ( 9 ): 1285 - 1296 . DOI: 10.1038/nprot.2015.077 http://dx.doi.org/10.1038/nprot.2015.077 .
PURCELL S , NEALE B , TODD-BROWN K , et al . PLINK: a tool set for whole-genome association and population-based linkage analyses [J]. Am J Hum Genet , 2007 , 81 ( 3 ): 559 - 575 . DOI: 10.1086/519795 http://dx.doi.org/10.1086/519795 .
DAY F R , HELGASON H , CHASMAN D I , et al . Physical and neurobehavioral determinants of reproductive onset and success [J]. Nat Genet , 2016 , 48 ( 6 ): 617 - 623 . DOI: 10.1038/ng.3551 http://dx.doi.org/10.1038/ng.3551 .
DIVALL S A , RADOVICK S . Pubertal development and menarche [J]. Ann N Y Acad Sci , 2008 , 1135 : 19 - 28 . DOI: 10.1196/annals.1429.026 http://dx.doi.org/10.1196/annals.1429.026 .
ITRIYEVA K . The normal menstrual cycle [J]. Curr Probl Pediatr Adolesc Health Care , 2022 , 52 ( 5 ): 101183 . DOI: 10.1016/j.cppeds.2022.101183 http://dx.doi.org/10.1016/j.cppeds.2022.101183 .
PRENTICE P , VINER R M . Pubertal timing and adult obesity and cardiometabolic risk in women and men: a systematic review and meta-analysis [J]. Int J Obes (Lond) , 2013 , 37 ( 8 ): 1036 - 1043 . DOI: 10.1038/ijo.2012.177 http://dx.doi.org/10.1038/ijo.2012.177 .
MARTINHO L C A P , ZANIQUELI D , ANDREAZZI A E , et al . Association between early menarche and hypertension in pre and postmenopausal women: Baependi Heart Study [J]. J Hypertens , 2025 , 43 ( 2 ): 318 - 324 . DOI: 10.1097/hjh.0000000000003908 http://dx.doi.org/10.1097/hjh.0000000000003908 .
PONOMARENKO I , RESHETNIKOV E , POLONIKOV A , et al . Candidate genes for age at menarche are associated with uterine leiomyoma [J]. Front Genet , 2021 , 11 : 512940 . DOI: 10.3389/fgene.2020.512940 http://dx.doi.org/10.3389/fgene.2020.512940 .
FUHRMAN B J , MOORE S C , BYRNE C , et al . Association of the age at menarche with site-specific cancer risks in pooled data from nine cohorts [J]. Cancer Res , 2021 , 81 ( 8 ): 2246 - 2255 . DOI: 10.1158/0008-5472.CAN-19-3093 http://dx.doi.org/10.1158/0008-5472.CAN-19-3093 .
ZHANG L L , LI Y Q , ZHOU W , et al . Mediation effect of BMI on the relationship between age at menarche and hypertension: The Henan Rural Cohort Study [J]. J Hum Hypertens , 2020 , 34 ( 6 ): 448 - 456 . DOI: 10.1038/s41371-019-0247-2 http://dx.doi.org/10.1038/s41371-019-0247-2 .
XIANG Y F , TANWAR V , SINGH P , et al . Early menarche and childbirth accelerate aging-related outcomes and age-related diseases: Evidence for antagonistic pleiotropy in humans [DB/OL]. medRxiv , 2024 .
FARAHMAND M , RAHMATI M , SAEI GHARE NAZ M , et al . Fracture incidence in women: the impact of reproductive characteristics [J]. BMC Public Health , 2024 , 24 ( 1 ): 3409 . DOI: 10.1186/s12889-024-20890-2 http://dx.doi.org/10.1186/s12889-024-20890-2 .
MAISONET M , CHRISTENSEN K Y , RUBIN C , et al . Role of prenatal characteristics and early growth on pubertal attainment of British girls [J]. Pediatrics , 2010 , 126 ( 3 ): e591-600 . DOI: 10.1542/peds.2009-2636 http://dx.doi.org/10.1542/peds.2009-2636 .
CHO G J , PARK H T , SHIN J H , et al . Age at menarche in a Korean population: secular trends and influencing factors [J]. Eur J Pediatr , 2010 , 169 ( 1 ): 89 - 94 . DOI: 10.1007/s00431-009-0993-1 http://dx.doi.org/10.1007/s00431-009-0993-1 .
BRIX N , ERNST A , LAURIDSEN L L B , et al . Maternal smoking during pregnancy and timing of puberty in sons and daughters: a population-based cohort study [J]. Am J Epidemiol , 2019 , 188 ( 1 ): 47 - 56 . DOI: 10.1093/aje/kwy206 http://dx.doi.org/10.1093/aje/kwy206 .
KANG S H , JOO J H , JANG S I , et al . Association of exposure to secondhand smoke at home with early age at menarche in South Korea [J]. Public Health , 2020 , 185 : 144 - 149 . DOI: 10.1016/j.puhe.2020.04.041 http://dx.doi.org/10.1016/j.puhe.2020.04.041 .
MUELLER N T , Jr JACOBS D R , MACLEHOSE R F , et al . Consumption of caffeinated and artificially sweetened soft drinks is associated with risk of early menarche [J]. Am J Clin Nutr , 2015 , 102 ( 3 ): 648 - 654 . DOI: 10.3945/ajcn.114.100958 http://dx.doi.org/10.3945/ajcn.114.100958 .
DELAHANTY R J , BEEGHLY-FADIEL A , LONG J R , et al . Evaluation of GWAS-identified genetic variants for age at menarche among Chinese women [J]. Hum Reprod , 2013 , 28 ( 4 ): 1135 - 1143 . DOI: 10.1093/humrep/det011 http://dx.doi.org/10.1093/humrep/det011 .
SHI J J , ZHANG B , CHOI J Y , et al . Age at menarche and age at natural menopause in East Asian women: a genome-wide association study [J]. Age (Dordr) , 2016 , 38 ( 5/6 ): 513 - 523 . DOI: 10.1007/s11357-016-9939-5 http://dx.doi.org/10.1007/s11357-016-9939-5 .
LIU Y Z , GUO Y F , WANG L , et al . Genome-wide association analyses identify SPOCK as a key novel gene underlying age at menarche [J]. PLoS Genet , 2009 , 5 ( 3 ): e1000420 . DOI: 10.1371/journal.pgen.1000420 http://dx.doi.org/10.1371/journal.pgen.1000420 .
VELUTHAKAL R , THURMOND D C . Emerging roles of small GTPases in islet β-cell function [J]. Cells , 2021 , 10 ( 6 ): 1503 . DOI: 10.3390/cells10061503 http://dx.doi.org/10.3390/cells10061503 .
GENDASZEWSKA-DARMACH E , GARSTKA M A , BŁAŻEWSKA K M . Targeting small GTPases and their prenylation in diabetes mellitus [J]. J Med Chem , 2021 , 64 ( 14 ): 9677 - 9710 . DOI: 10.1021/acs.jmedchem.1c00410 http://dx.doi.org/10.1021/acs.jmedchem.1c00410 .
YU T , XU B F , BAO M H , et al . Identification of potential biomarkers and pathways associated with carotid atherosclerotic plaques in type 2 diabetes mellitus: a transcriptomics study [J]. Front Endocrinol (Lausanne) , 2022 , 13 : 981100 . DOI: 10.3389/fendo.2022.981100 http://dx.doi.org/10.3389/fendo.2022.981100 .
YANG Y E , HU M H , ZENG Y C , et al . IL-33/NF-κB/ST2L/Rab37 positive-feedback loop promotes M2 macrophage to limit chemotherapeutic efficacy in lung cancer [J]. Cell Death Dis , 2024 , 15 ( 5 ): 356 . DOI: 10.1038/s41419-024-06746-y http://dx.doi.org/10.1038/s41419-024-06746-y .
XU H , JIA J P . Immune-related hub genes and the competitive endogenous RNA network in Alzheimer’s disease [J]. J Alzheimers Dis , 2020 , 77 ( 3 ): 1255 - 1265 . DOI: 10.3233/JAD-200081 http://dx.doi.org/10.3233/JAD-200081 .
RAAD S , DAVID A , SAGNIEZ M , et al . iPSCs derived from esophageal atresia patients reveal SOX2 dysregulation at the anterior foregut stage [J]. Dis Model Mech , 2022 , 15 ( 11 ): dmm049541 . DOI: 10.1242/dmm.049541 http://dx.doi.org/10.1242/dmm.049541 .
0
浏览量
0
下载量
0
CSCD
关联资源
相关文章
相关作者
相关机构
京公网安备11010802024621