Open AccessDistribution of Lewis and Secretor polymorphisms and corresponding CA 19‐9 antigen expression in a Chinese population
Author(s) -
Guo Meng,
Luo Guopei,
Lu Renquan,
Shi Weizhong,
Cheng He,
Lu Yu,
Jin Kaizhou,
Yang Chao,
Wang Zhengshi,
Long Jiang,
Xu Jin,
Ni Quanxing,
Liu Chen,
Yu Xianjun
Publication year - 2017
Publication title -
febs open bio
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.718
H-Index - 31
ISSN - 2211-5463
DOI - 10.1002/2211-5463.12278
Subject(s) - phenotype , abo blood group system , genotype , allele , antigen , gene , microbiology and biotechnology , genetics , population , polymorphism (computer science) , haplotype , biology , medicine , environmental health
The Lewis ( FUT 3 ) and Secretor ( FUT 2 ) genes, corresponding to secretion of Lewis ABO (H) histo‐blood group antigen CA 19‐9, are highly polymorphic with differences between populations. In this study, the FUT 3 and FUT 2 genes in 316 Chinese participants were sequenced to detect polymorphisms, and the associated CA 19‐9 antigen secretion was also measured. In total, 14 genotypes of FUT 3 and 10 genotypes of FUT 2 were verified. Le / Le , Le / le 59,508 and Le / le 59 were the main genotypes of FUT 3 with frequencies of 53.2%, 10.7% and 3.5%, respectively. Se / Se , Se / se 385 and se 385 / se 385 were the main genotypes of FUT 2 , with frequencies of 21.4%, 18.6% and 16.2%, respectively. The alleles le 1067 and le 508 were found extensively in the Chinese population, and the frequency of allele se 385 was shown to be higher than previously reported. Phenotype analysis revealed that 9.8% of individuals were the Lewis‐negative type and 22.5% were the secretor‐negative type. Combined phenotypes showed that 3.2% of participants were of ‘double‐negative’ phenotype (le, se) and 19.3% were of single dominant non‐secretor phenotype (Le, se). Serum Lewis antigen CA 19‐9 levels were significantly different between subgroups and consistent with the defined phenotype. Our study revealed the unique distribution of Lewis and Secretor polymorphisms in a large Chinese population, and decoded the combined genotypes of the two CA 19‐9‐related genes.