羟基类固醇脱氢酶基因家族单核苷酸多态性与指长比的关联性

李帆; 马占兵; 张静; 杨梦怡; 王媛; 马茜; 陆宏; 霍正浩; 党洁

doi:10.16098/j.issn.0529-1356.2023.02.012

PDF(6064 KB)

解剖学报 ›› 2023, Vol. 54 ›› Issue (2) : 208-215. DOI: 10.16098/j.issn.0529-1356.2023.02.012

细胞和分子生物学

羟基类固醇脱氢酶基因家族单核苷酸多态性与指长比的关联性

李帆 ^1,2 马占兵 ^1,2 张静^1,2 杨梦怡^1,2 王媛^1,2 马茜^1,2 陆宏 ^1,2 霍正浩 ^1,2 党洁^1,2*

作者信息 +

Association between hydroxysteroid dehydrogenases gene family single-nucleotide polymorphisms and digit ratio

LI Fan^1,2 MA Zhan-bing ^1,2 ZHANG Jing ^1,2 YANG Meng-yi ^1,2 WANG Yuan ^1,2 MA Qian ^1,2 LU Hong ^1,2 HUO Zheng-hao^1,2 DANG Jie ^1,2*

Author information +

文章历史 +

摘要

目的探讨羟基类固醇脱氢酶基因家族8个单核苷酸多态性（SNPs）与人类指长比（2D∶4D）的关联性。方法随机选取808名在校大学生（男性400名，女性408名）为研究对象，拍摄双手掌面照片后利用电脑图像软件测量并计算左、右手各指长比；多重PCR法对11β-羟基类固醇脱氢酶（HSD11B）和17β-羟基类固醇脱氢酶（HSD17B）基因家族8个SNPs位点（rs1000283，rs2236903，rs5479，rs56303414，rs676387，rs4445895，rs2066474，rs8190478）进行基因分型；单因素方差分析法分析不同基因型与2D∶4D的关联。结果宁夏大学生女性左手（L）2D ∶3D，L2D ∶4D、L3D ∶4D、右手（R）2D ∶4D、R2D ∶5D均显著高于男性（P<0.05）；rs2236903（HSD11B1）的基因型频率在男女间的差异具有统计学意义（P<0.05）；HSD11B1基因的rs1000283-rs2236903及HSD11B2基因rs5479-rs56303414存在强关联，但其频率在男女两性间差异均无统计学意义（P >0.05）；不论男性还是女性，8个SNPs位点基因型频率与指长比（2D ∶4D）无显著关联（P>0.05）。结论宁夏汉族大学生群体的指长比性别差异存在显著性，然而，其与HSD11B和HSD17B基因家族8个SNPs位点基因多态性无关联性，提示其可能与人类指长比的形成无关。

Abstract

Objective investigate the association between 8 single-nucleotide polymorphisms (SNPs) of hydroxysteroid dehydrogenase (HSD) gene family and human digit ratio (2D ∶4D). Methods Randomly selected 808 college students (400 males and 408 females) as subjects, the digit ratio of left and right fingers were measured and calculated using computer image software. Eight SNPs (rs1000283, rs2236903, rs5479, rs56303414, rs676387, rs4445895, rs2066474, rs8190478) in HSD11B and HSD17B gene families were genotyped by multiplex PCR. The association between 2D∶4D and different genotypes was analyzed by One-Way ANOVA. Results Female left hand(L)2D ∶3D, L2D ∶4D, L3D ∶4D, right hand(R)2D ∶4D, R2D ∶5D were significantly higher than male (P<0.05). The genotype frequency of rs2236903 (HSD11B1) was significantly different between male and female (P <0.05). A good linkage disequilibrium was found between rs1000283and rs2236903 of HSD11B1 gene, rs5479 and rs56303414 of HSD11B2 gene, but there was no statistical difference in frequency between male and female students(P>0.05). The genotypes frequency of the 8 SNPs were not significantly associated with digit ratio (2D ∶4D) in both males and females (P >0.05). Conclusion There are significant gender differences in digit ratio in Ningxia Han college students, but there is no correlation between digit ratio and 8 SNPs in HSD11B and HSD17B gene families, suggesting that HSD11B and HSD17B gene families may have nothing to do with the formation of human digit ratio.

导出引用

李帆马占兵张静杨梦怡王媛马茜陆宏霍正浩党洁. 羟基类固醇脱氢酶基因家族单核苷酸多态性与指长比的关联性[J]. 解剖学报. 2023, 54(2): 208-215 https://doi.org/10.16098/j.issn.0529-1356.2023.02.012

LI Fan MA Zhan-bing ZHANG Jing YANG Meng-yi WANG Yuan MA Qian LU Hong HUO Zheng-hao DANG Jie. Association between hydroxysteroid dehydrogenases gene family single-nucleotide polymorphisms and digit ratio[J]. Acta Anatomica Sinica. 2023, 54(2): 208-215 https://doi.org/10.16098/j.issn.0529-1356.2023.02.012

中图分类号： Q983

参考文献

［1］Xi HJ, Zhao H, Li WH, et al. Primary analysis of current studies on the digit ratio［J］.Acta Anatomica Sinica, 2012,43(4),569-573. (in Chinese)

席焕久, 赵红, 李文慧, 等. 对指长比研究现状的初步分析［J］.解剖学报, 2012,43(4),569-573.

［2］Manning JT, Scutt D, Wilson J, et al. The ratio of 2nd to 4th digit length: a predictor of sperm numbers and concentrations of testosterone, luteinizing hormone and oestrogen［J］. Hum Reprod, 1998, 13(11):3000-3004.

［3］Richards G. What is the evidence for a link between digit ratio (2D ∶4D) and direct measures of prenatal sex hormones ［J］ ? Early Hum Dev, 2017, 113:71-72.

［4］Williams TJ, Pepitone ME, Christensen SE, et al. Finger-length ratios and sexual orientation［J］. Nature, 2000, 404(6777):455-456.

［5］Myers L, Van’t Westeinde A, Kuja-Halkola R, et al. 2D ∶4D ratio in neurodevelopmental disorders: a twin study［J］. J Autism Dev Disord, 2018, 48(9):3244-3252.

［6］Baes C, Schenkel F. The future of phenomics［J］. Anim Front, 2020, 10(2):4-5.

［7］Swaddle JP. Digit ratio: a pointer to fertility, behavior, and health［J］. Heredity, 2002, 89(5):403.

［8］Medland SE, Zayats T, Glaser B, et al. A variant in LIN28B is associated with 2D∶4D finger-length ratio,a putative retrospective biomarker of prenatal testosterone exposure［J］. Am J Hum Genet, 2010, 86(4):519-525.

［9］Lawrance-Owen AJ, Bargary G, Bosten JM, et al. Genetic association suggests that SMOC1 mediates between prenatal sex hormones and digit ratio［J］. Hum Genet, 2013, 132(4):415-421.

［10］Warrington NM, Shevroja E, Hemani G, et al. Genome-wide association study identifies nine novel loci for 2D∶4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero［J］. Hum Mol Genet, 2018, 27(11):2025-2038.

［11］Zou C, Wang L, Zou Y. Characteristics and sex dimorphism of 17beta-hydroxysteroid dehydrogenase family genes in the olive flounder Paralichthys olivaceus［J］. J Steroid Biochem Mol Biol, 2020, 199: 105597.

［12］Zhang J, Yang M, Luan P. Associations between cytochrome P450 (CYP) gene single-nucleotide polymorphisms and second-to-fourth digit ratio in Chinese university students［J］. Med Sci Monit, 2021, 27: e930591.

［13］Tian X, Sun ZhG. Research progress in prediction of pregnancy outcome by estrogen level in early pregnancy［J］.Medical Recapitulate, 2020, 26(5):872-877. (in Chinese)

田晓, 孙振高.早孕期雌激素水平预测妊娠结局的研究进展［J］.医学综述, 2020, 26(5):872-877.

［14］Lu H, Huo ZhH, Shi ZhY, et al. Study on the digit ratio of Hui and Han ethnic groups in Ningxia［J］. Acta Anatomica Sinica, 2008,39(2): 267-271. (in Chinese)

陆宏, 霍正浩, 师志云, 等. 宁夏回族和汉族群体指长比的研究［J］. 解剖学报, 2008,39(2):267-271.

［15］Wang L, Huo Z, Lu H, et al. Digit ratio (2D∶4D) and coronary artery disease in north Chinese women［J］. Early Hum Dev, 2018, 116:64-67.

［16］Lu H, Ma ZhB, Shi ZhY, et al. Digit ratio (2D∶4D) in Chinese women with breast cancer［J］. Am J Hum Biol, 2014, 26(4):562-564.

［17］H?nekopp J. No evidence that 2D∶4D is related to the number of CAG repeats in the androgen receptor gene ［J］. Front Endocrinol (Lausanne), 2013, 4:185.

［18］Voracek M. No effects of androgen receptor gene CAG and GGC repeat polymorphisms on digit ratio (2D∶4D): a comprehensive meta-analysis and critical evaluation of research［J］. Evol Hum Behav, 2014, 35:430-437.

［19］Pearce E, Wlodarski R, Machin A. Associations between neurochemical receptor genes, 2D∶4D, impulsivity and relationship quality［J］. Biol Lett, 2018, 14(12):20180642.

［20］Vaillancourt KL, Dinsdale NL, Hurd PL. Estrogen receptor 1 promoter polymorphism and digit ratio in men［J］. Am J Hum Biol, 2012, 24(5):682-689.

［21］Nishimura Y, Moriya K, Kobayashi S. Association between ESR1 polymorphisms and second to fourth digit ratio in school-aged children in the Hokkaido Study［J］. Steroids, 2019, 141: 55-62.

［22］Zhanbing M, Jie D, Chunyue B. Association of CYP19A1 single-nucleotide polymorphism with digit ratio (2D∶4D) in a sample of men and women from Ningxia (China)［J］. Early Hum Dev, 2019, 132: 58-65.

［23］Li XX, Zhu QL, Wang Y, et al. Analysis of the correlation between HSD11Bs expression in the ovarian granulosa cells and cortisol metabolism in the ovary of PCOS［J］. Journal of Shanghai Jiaotong University(Medical Science), 2018, 38(8):858-864. (in Chinese)

李小雪, 朱琴玲, 王缘,等.卵巢颗粒细胞β-羟基类固醇脱氢酶的表达与多囊卵巢综合征卵巢局部皮质醇代谢的相关性研究［J］.上海交通大学学报(医学版), 2018, 38(8):858-864.

［24］Wu ChL, Li J, Wang J, et al. Research progress on 11β-steroid dehydrogenase［J］.Strait Pharmaceutical Journal, 2020, 32(4):177-180. (in Chinese)

吴春丽, 李娟, 王晶,等.关于11β-类固醇脱氢酶的研究进展［J］.海峡药学, 2020, 32(4):177-180.

［25］Heinosalo T, Saarinen N, Poutanen M. Role of hydroxysteroid (17beta) dehydrogenase type 1 in reproductive tissues and hormone-dependent diseases［J］. Mol Cell Endocrinol, 2019, 489:9-31.

［26］Ni X, Tang XL.17β-hydroxysteroid dehydrogenase［J］. Progress in Physiological Sciences, 2002, 33(2):173-175. (in Chinese)

倪鑫, 唐晓露.17β-羟基类固醇脱氢酶.生理科学进展［J］.生理科学进展, 2002, 33(2):173-175.

［27］García-Cruz E, Piqueras M, Huguet J, et al. Higher second fourth digit ratio predicts higher incidence of prostate cancer in prostate biopsy［J］. Arch Esp Urol, 2012, 65(9):816-821.