Regional Gender Differences in an Autosomal Disease Result in Corresponding Diversity Differences

Overview

Journal Sci Rep

Specialty Science

Date 2019 Apr 4

PMID 30940865

Authors

Shenmin Guan

Yingying Zhao

Xiao Zhuo

Wenhui Song

Xiaorui Geng

Huanming Yang

Jian Wang

Xinhua Wu

Jinlong Yang

Xin Song

Le Cheng

Affiliations

Soon will be listed here.

Abstract

Regional gender differences in autosomal chromosome disorders have been observed repeatedly. However, the corresponding diversity changes remain unconfirmed. By analyzing previously published thalassemia data from the Dai people in Dehong and Xishuangbanna (two regions in Yunnan Province, China), we found that several sequence types, including HBA CNV and HBB mutations, significantly depend on gender in Xishuangbanna but not in Dehong. With the supportive evidence from previous researches, we accept that some certain mutations depend on gender regionally. This association seems peculiar. It is among one common people on a small geographical scale, while other recorded thalassemia gender difference varies by ethnics and continent.

References

Toumba M, Skordis N . Osteoporosis syndrome in thalassaemia major: an overview. J Osteoporos. 2010; 2010:537673. PMC: 2957233. DOI: 10.4061/2010/537673. View

Qiu Q, Wu D, Yu L, Yan T, Zhang W, Li Z . Evidence of recent natural selection on the Southeast Asian deletion (--(SEA)) causing α-thalassemia in South China. BMC Evol Biol. 2013; 13:63. PMC: 3626844. DOI: 10.1186/1471-2148-13-63. View

Yu Q, Sun H, Chen W, Chen X, Xu Y, He Y . Sex-specific association of rs4746172 of VCL gene with hypertension in two Han populations from Southern China. Sci Rep. 2015; 5:15245. PMC: 4613695. DOI: 10.1038/srep15245. View

Ober C, Loisel D, Gilad Y . Sex-specific genetic architecture of human disease. Nat Rev Genet. 2008; 9(12):911-22. PMC: 2694620. DOI: 10.1038/nrg2415. View

Zhang J, He J, Zeng X, Su J, Chen H, Xu Y . [Gene Mutation Spectrum of β-Thalassemia in Dai Ethinic Population of Two Border Region in Chinese Yunnan Province]. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2016; 24(1):157-61. DOI: 10.7534/j.issn.1009-2137.2016.01.030. View

Elguero E, Delicat-Loembet L, Rougeron V, Arnathau C, Roche B, Becquart P . Malaria continues to select for sickle cell trait in Central Africa. Proc Natl Acad Sci U S A. 2015; 112(22):7051-4. PMC: 4460506. DOI: 10.1073/pnas.1505665112. View

Gretz N, Ceccherini I, Kranzlin B, Kloting I, Devoto M, Rohmeiss P . Gender-dependent disease severity in autosomal polycystic kidney disease of rats. Kidney Int. 1995; 48(2):496-500. DOI: 10.1038/ki.1995.319. View

Kyriakou A, Savva S, Savvides I, Pangalou E, Ioannou Y, Christou S . Gender differences in the prevalence and severity of bone disease in thalassaemia. Pediatr Endocrinol Rev. 2009; 6 Suppl 1:116-22. View

Moussavi F, Ghasabeh M, Roodpeyma S, Alavi S, Shakiba M, Gheiratmand R . Optimal method for early detection of cardiac disorders in thalassemia major patients: magnetic resonance imaging or echocardiography?. Blood Res. 2014; 49(3):182-6. PMC: 4188784. DOI: 10.5045/br.2014.49.3.182. View

10.

Li F, Li Q, Tan Z, Zhang S, Liu J, Zhao E . A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance. J Mol Neurosci. 2011; 46(2):378-83. DOI: 10.1007/s12031-011-9596-1. View

11.

Yao L, Zou T, Yang F, Hu L, Chen Q, Fan L . [Epidemiological study of thalasaemia among children in Xishuangbanna, Dehong and Nujiang of Yunnan province]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011; 28(5):579-82. DOI: 10.3760/cma.j.issn.1003-9406.2011.05.025. View

12.

Reisner E, Kostyu D, Phillips G, Walker C, Dawson D . Alloantibody responses in multiply transfused sickle cell patients. Tissue Antigens. 1987; 30(4):161-6. DOI: 10.1111/j.1399-0039.1987.tb01615.x. View

13.

Ishikawa I, Maeda K, Nakai S, Kawaguchi Y . Gender difference in the mean age at the induction of hemodialysis in patients with autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2000; 35(6):1072-5. DOI: 10.1016/s0272-6386(00)70042-4. View

14.

Dhawan H, Kumawat V, Marwaha N, Sharma R, Sachdev S, Bansal D . Alloimmunization and autoimmunization in transfusion dependent thalassemia major patients: Study on 319 patients. Asian J Transfus Sci. 2014; 8(2):84-8. PMC: 4140069. DOI: 10.4103/0973-6247.137438. View

15.

He J, Song W, Yang J, Lu S, Yuan Y, Guo J . Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China. Genet Med. 2017; 19(9):1022-1031. DOI: 10.1038/gim.2016.218. View

16.

S K, P K T, B N M, N M, Cbk M, Karuna T . Severe Falciparum Malaria-Difference in Mortality among Male and Nonpregnant Females. J Clin Diagn Res. 2015; 8(12):MC01-4. PMC: 4316284. DOI: 10.7860/JCDR/2014/10055.5280. View

17.

Datta S, Mukherjee S, Talukder B, Bhattacharya P, Mukherjee K . Frequency of Red Cell Alloimmunization and Autoimmunization in Thalassemia Patients: A Report from Eastern India. Adv Hematol. 2015; 2015:610931. PMC: 4575732. DOI: 10.1155/2015/610931. View

18.

Woldu D, Haile Z . Gender roles and perceptions of malaria risk in agricultural communities of Mwea Division in Central Kenya. Women Health. 2015; 55(2):227-43. DOI: 10.1080/03630242.2014.979968. View