TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia

被引：78

作者：

An, Peng ^{[1
]}

Wu, Qian ^{[1
]}

Wang, Hao ^{[1
]}

Guan, Yu ^{[1
]}

Mu, Mingdao ^{[1
]}

Liao, Yijun ^{[1
]}

Zhou, Daizhan ^{[1
]}

Song, Pengkun ^{[2
]}

Wang, Chunrong ^{[2
]}

Meng, Liping ^{[2
]}

Man, Qingqing ^{[2
]}

Li, Lixiang ^{[2
]}

Zhang, Jian ^{[2
]}

Wang, Fudi ^{[1
]}

机构：

[1] Chinese Acad Sci, Grp Biomet Metab, Key Lab Nutr & Metab, Shanghai Key Lab Pediat Gastroenterol & Nutr,Inst, Shanghai 200031, Peoples R China

[2] Chinese Ctr Dis Control & Prevent, Key Lab Trace Element Nutr, Minist Hlth Peoples Republ China, Inst Nutr & Food Safety, Beijing 100050, Peoples R China

来源：

HUMAN MOLECULAR GENETICS | 2012年 / 21卷 / 09期

基金：

中国国家自然科学基金;

关键词：

PROTEASE MATRIPTASE-2 TMPRSS6; TRANSFERRIN G277S MUTATION; GENOME-WIDE ASSOCIATION; HEPCIDIN EXPRESSION; COMMON VARIANTS; HFE; REGULATOR; LIVER; HEMOCHROMATOSIS; HOMEOSTASIS;

D O I：

10.1093/hmg/dds028

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A variety of conditions lead to anemia, which affects one-quarter of the worlds population. Previous genome-wide association studies revealed a number of genetic polymorphisms significantly associated with plasma iron status. To evaluate the association of genetic variants in genes involved in iron delivery and hepcidin regulation pathways with the risk of iron-deficiency anemia (IDA), the following single nucleotide polymorphisms were genotyped in 2139 unrelated elderly Chinese women: rs3811647 (TF), rs7385804 (TFR2), rs235756 (BMP2), and rs855791(V736A) and rs4820268 (TMPRSS6, encoding matriptase-2). We identified common variants in TMPRSS6 as being genetic risk factors for both iron deficiency (ORrs855791 1.55, P 4.96 10(8)) and IDA (ORrs855791 1.78, P 8.43 10(9)). TMPRSS6 polymorphisms were also associated with lower serum iron (SI) and hemoglobin levels, consistent with their associations to increased iron deficiency and anemia risk. Variants rs3811647 in TF and rs7385804 in TFR2 were associated with reduced SI, serum transferrin and transferrin saturation levels; however, these variants were not associated with iron deficiency or anemia risk. Our findings suggest that TF, TFR2 and TMPRSS6 polymorphisms are significantly associated with decreased iron status, but only variants in TMPRSS6 are genetic risk factors for iron deficiency and IDA.

引用

页码：2124 / 2131

页数：8

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