Next-generation HLA typing of 382 International Histocompatibility Working Group reference B-lymphoblastoid cell lines: Report from the 17th International HLA and Immunogenetics Workshop

被引：17

作者：

Creary, Lisa E. ^{[1
,25
]}

Guerra, Sandra G. ^{[2
]}

Chong, Winnie ^{[2
]}

Brown, Colin J. ^{[3
]}

Turner, Thomas R. ^{[4
,5
]}

Robinson, James ^{[4
,5
]}

Bultitude, Will P. ^{[4
,5
]}

Mayor, Neema P. ^{[4
,5
]}

Marsh, Steven G. E. ^{[4
,5
]}

Saito, Katsuyuki ^{[6
]}

Lam, Kevin ^{[6
]}

Duke, Jamie L. ^{[7
]}

Mosbruger, Timothy L. ^{[7
]}

Ferriola, Deborah ^{[7
]}

Monos, Dimitrios ^{[7
,8
]}

Willis, Amanda ^{[9
]}

Askar, Medhat ^{[9
]}

Fischer, Gottfried ^{[10
]}

Saw, Chee Loong ^{[11
]}

Ragoussis, Jiannis ^{[12
,13
,14
]}

Petrek, Martin ^{[15
]}

Serra-Pages, Caries ^{[16
]}

Juan, Manel ^{[16
]}

Stavropoulos-Giokas, Catherine ^{[17
]}

Dinou, Amalia ^{[17
]}

Ameen, Reem ^{[18
]}

Al Shemmari, Salem ^{[18
]}

Spierings, Eric ^{[19
]}

Gendzekhadze, Ketevan ^{[20
]}

Morris, Gerald P. ^{[21
]}

Zhang, Qiuheng ^{[22
]}

Kashi, Zahra ^{[23
]}

Hsu, Susan ^{[24
]}

Gangavarapu, Sridevi ^{[25
]}

Mallempati, Kalyan C. ^{[25
]}

Yamamoto, Fumiko ^{[25
]}

Osoegawa, Kazutoyo ^{[25
]}

Vayntrub, Tamara ^{[25
]}

Chang, Chia-Jung ^{[26
]}

Hansen, John A. ^{[27
]}

Fernandez-Vina, Marcelo A. ^{[1
,25
]}

机构：

[1] Stanford Univ, Sch Med, Dept Pathol, Palo Alto, CA 94304 USA

[2] NHS Blood & Transplant, Histrocompatibil & Immunogenet Serv Dev Lab, London, England

[3] NHS Blood & Transplant, Dept Histocompatibil & Immunogenet, London, England

[4] Royal Free Hosp, Anthony Nolan Res Inst, London, England

[5] UCL Canc Inst, Royal Free Campus, London, England

[6] Thermo Fisher Sci, One Lambda, Mol Biol Res Dept, Canoga Pk, CA USA

[7] Childrens Hosp Philadelphia, Immunogenet Lab, Philadelphia, PA 19104 USA

[8] Univ Penn, Dept Pathol & Lab Med, Philadelphia, PA USA

[9] Baylor Univ, Med Ctr, Dept Pathol & Lab Med, Dallas, TX USA

[10] Med Univ Vienna, Dept Blood Grp Serol & Transfus Med, Vienna, Austria

[11] McGill Univ, HLA Lab, Div Haematol, Hlth Ctr, Montreal, PQ, Canada

[12] McGill Univ, Dept Human Genet, Montreal, PQ, Canada

[13] McGill Univ, Montreal, PQ, Canada

[14] Genome Quebec Innovat Ctr, Montreal, PQ, Canada

[15] Palacky Univ, Fac Med & Dent, IMTM, Dept Pathol Physiol & Immunogen, Olomouc, Czech Republic

[16] Univ Barcelona, IDIBAPS, Hosp Clin Barcelona, Immunol Dept, Barcelona, Spain

[17] Acad Athens, Hellen Cord Blood Bank, Biomed Res Fdn, Athens, Greece

[18] Kuwait Univ, Hlth Sci Ctr, Kuwait, Kuwait

[19] UMC Utrecht, Lab Translat Immunol, Utrecht, Netherlands

[20] City Hope Natl Med Ctr, HLA Lab, Duarte, CA USA

[21] Univ Calif San Diego, Dept Pathol, La Jolla, CA 92093 USA

[22] UCLA, Dept Pathol & Lab Med, Immunogenet Ctr, Los Angeles, CA USA

[23] Kashi Clin Labs Inc, HLA Dept, Portland, OR USA

[24] Amer Red Cross, HLA Lab, Philadelphia, PA USA

[25] Stanford Blood Ctr, Histocompatibil Immunogenet & Dis Profiling Lab, Palo Alto, CA 94025 USA

[26] Stanford Genome Technol Ctr, Palo Alto, CA USA

[27] Fred Hutchinson Canc Res Ctr, 1124 Columbia St, Seattle, WA 98104 USA

来源：

HUMAN IMMUNOLOGY | 2019年 / 80卷 / 07期

基金：

美国国家卫生研究院;

关键词：

Human leukocyte antigen; Next-generation sequencing; B-lymphoblastoid cell lines; International HLA and Immunogenetics Workshop; Multiple-laboratory testing; CLASS-I GENES; CONSERVED DIVERSITY; NONCODING REGIONS; HIGH-RESOLUTION; DNA; ALLELE; KIR; HAPLOTYPES; GENOTYPES;

D O I：

10.1016/j.humimm.2019.03.001

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Extended molecular characterization of HLA genes in the IHWG reference B-Iymphoblastoid cell lines (B-LCLs) was one of the major goals for the 17th International HLA and Immunogenetics Workshop (IHIW). Although reference B-LCLs have been examined extensively in previous workshops complete high-resolution typing was not completed for all the classical class I and class II HLA genes. To address this, we conducted a single-blind study where select panels of B-LCL genomic DNA samples were distributed to multiple laboratories for HLA genotyping by next-generation sequencing methods. Identical cell panels comprised of 24 and 346 samples were distributed and typed by at least four laboratories in order to derive accurate consensus HLA genotypes. Overall concordance rates calculated at both 2- and 4-field allele-level resolutions ranged from 90.4% to 100%. Concordance for the class I genes ranged from 91.7 to 100%, whereas concordance for class II genes was variable; the lowest observed at HLA-DRB3 (84.2%). At the maximum allele-resolution 78 B-LCLs were defined as homozygous for all 11 loci. We identified 11 novel exon polymorphisms in the entire cell panel. A comparison of the B-LCLs NGS HLA genotypes with the HLA genotypes catalogued in the IPD-IMGT/HLA Database Cell Repository, revealed an overall allele match at 68.4%. Typing discrepancies between the two datasets were mostly due to the lower-resolution historical typing methods resulting in incomplete HLA genotypes for some samples listed in the IPD-IMGT/HLA Database Cell Repository. Our approach of multiple-laboratory NGS HLA typing of the B-LCLs has provided accurate genotyping data. The data generated by the tremendous collaborative efforts of the 17th IHIW participants is useful for updating the current cell and sequence databases and will be a valuable resource for future studies.

引用

页码：449 / 460

页数：12

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