Maternal homozygocity for a 14 base pair insertion in exon 8 of the HLA-G gene and carriage of HLA class II alleles restricting HY immunity predispose to unexplained secondary recurrent miscarriage and low birth weight in children born to these patients
- 作者：Ole B. Christiansena ; b ; olbc@rn.dk ; obchr@post5.tele.dk ; Astrid M. Koltea ; Mette Dahlc ; Elisabeth C. Larsena ; Rudi Steffensend ; Henriette S. Nielsena ; Thomas V. Hviidc
- 关键词：Bp ; base pair ; Del ; deletion ; HYrHLA ; class II HLA alleles restricting anti-HY immunity ; HY ; male-specific minor histocompatibility antigen ; LD ; linkage disequilibrium ; Ins ; insertion ; RM ; recurrent miscarriage ; s-HLA-G ; soluble HLA-G
- 刊名：Human Immunology
- 出版年：2012
- 期刊代码：75_01988859
- 类别：bio
- 出版时间：July, 2012
- 卷：73
- 期：7
- 页码：699-705
- 文件大小：360 K
摘要
Homozygous carriage of a 14 base pair (bp) insertion in exon 8 of the HLA-G gene may be associated with low levels of soluble HLA-G and recurrent miscarriage (RM). We investigated the G14bp insertion(ins)/deletion(del) polymorphism in 339 women with unexplained RM and 125 control women. In all patients and patients with secondary RM after a firstborn boy, 19.2%and 23.9%, respectively, were G14bp ins/ins compared with 11.2%of controls (p < 0.05 and p < 0.01). Among secondary RM patients with a firstborn boy, G14bp del/del and no carriage of an HLA class II (HYrHLA) allele restricting immunity against male-specific minor HY antigens was found less often than in controls (p < 0.05) whereas G14bp ins/ins and carriage of HYrHLA predisposed (p < 0.08) to this clinical entity. The mean birth weight of firstborn boys born to G14bp ins positive secondary RM patients was significantly lower than expected (p < 0.001) but only in carriers of HYrHLA alleles (p < 0.01).
In conclusion, homozygosity for G14bp ins predisposes to RM. The combination of G14 ins homozygosity and carriage of HYrHLA predisposes to secondary RM in women with a firstborn boy and negatively affects birth weight in these boys.