Association between c. 1311C > T and c. 1004C > A and the risk of G6PD deficiency in Guangxi population
10.19405/j.cnki.issn1000-1492.2022.01.032
- Author:
Feng Shi
1
;
Yuanji Teng
1
;
Liqiao He
2
;
Lan Li
2
;
Guangjing Li
3
;
Wenli Qiu
2
;
Chunfang Wang
3
;
Junli Wang
3
Author Information
1. Reproductive Medicine Center, Afiliated Hospital of Youjiang Medical University for Nationalities , Baise 533000；Graduate School , Youjiang Medical University for Nationalities , Baise 533000
2. Graduate School , Youjiang Medical University for Nationalities , Baise 533000
3. Reproductive Medicine Center, Afiliated Hospital of Youjiang Medical University for Nationalities , Baise 533000
- Publication Type:Journal Article
- Keywords:
glucose⁃6 ⁃phosphate dehydrogenase;
single nucleotide polymorphism;
c. 1311C > T;
c. 1004C > A
- From:
Acta Universitatis Medicinalis Anhui
2022;57(1):165-168
- CountryChina
- Language:Chinese
-
Abstract:
Objective : To investigate the association between c. 1311C > T and c. 1004C > A of glucose⁃6 ⁃phosphate dehydrogenase (G6PD) gene single nucleotide polymorphism ( SNP) with the risk of G6PD deficiency in
Guangxi population.
Methods :417 patients with G6PD deficiency were randomly selected as case group , and 295 healthy patients were selected as control group. The c. 1311C > T and c. 1004C > A were genotyped using the SNPscanTM multiple SNP method , and the haplotype frequency of two sites were analyzed by SHEsis.
Results : In the case and control group , there were statistically significant differences in the distribution frequency of genotype TT , CC + CT and allele T at c. 1311C > T locus [TT vs CC :(P = 0. 001 , OR = 0. 373 , 95% CI = 0. 204 - 0. 683) ; TT vs CC + CT :(P = 0. 001 , OR = 0. 371 , 95% CI = 0. 203 - 0. 678) ; T vs C :(P = 0. 002 , OR = 0. 601 , 95% CI = 0. 435 - 0. 829)] ;however, there was no significant difference in genotype and allele distribution frequency at c. 1004C > A locus (P > 0. 05) . The results of the rate method showed that compared with genotype CC , the genotype CT at c. 1311C > T increased the expression level of G6PD enzyme , while the genotype TT decreased the expression level of G6PD enzyme(P < 0. 05) , the haplotype analysis showed that C ⁃C and T ⁃C were associated with G6PD risk (P < 0. 05) .
Conclusion :In Guangxi population , c. 1311C > T locus genotypes TT , CC + CT and allele T were related to the decreased risk of G6PD deficiency.
- Full text:2024120417140633266c.1311C_T和c.1...PD缺乏症的发病风险相关性_石凤.pdf
