HLA DQB1*06:02

HLA DQB1*06:02 is an allele of the human leukocyte antigen class II gene that is strongly associated with an increased risk of developing type 1 narcolepsy (previously narcolepsy with cataplexy) and a reduced risk of type 1 diabetes. It is present in >90% of individuals with type 1 narcolepsy and <1% of cases of type 1 diabetes.^[1]^[2] The allele is not causative or required for the development of type 1 narcolepsy, although DQB1*06:02-negative cases are rare.^[3] The allele does not confer total protection to the development of type 1 diabetes.^[2] DQB1*60:02 is present in 12-38% of the general population.^[4]^[5]

References

^ "Narcolepsy Research - FAQs ". Center for Narcolepsy. Retrieved 2026-02-20.
^ ^a ^b Simmons, Kimber M.; Mitchell, Angela M.; Alkanani, Aimon A.; McDaniel, Kristen A.; Baschal, Erin E.; Armstrong, Taylor; Pyle, Laura; Yu, Liping; Michels, Aaron W. (2020-08-01). "Failed Genetic Protection: Type 1 Diabetes in the Presence of HLA-DQB1*06:02". Diabetes. 69 (8): 1763–1769. doi:10.2337/db20-0038. ISSN 0012-1797. PMC 7372070. PMID 32439825.
^ Han, Fang; Lin, Ling; Schormair, Barbara; Pizza, Fabio; Plazzi, Giuseppe; Ollila, Hanna M.; Nevsimalova, Sona; Jennum, Poul; Knudsen, Stine; Winkelmann, Juliane; Coquillard, Cristin; Babrzadeh, Farbod; Strom, Tim M.; Wang, Chunlin; Mindrinos, Michael (2014-10-01). "HLA DQB1*06:02 negative narcolepsy with hypocretin/orexin deficiency". Sleep. 37 (10): 1601–1608. doi:10.5665/sleep.4066. ISSN 1550-9109. PMC 4173917. PMID 25197808.
^ Taka, Antti-Mathias; Härkönen, Taina; Vähäsalo, Paula; Vatanen, Tommi; Lempainen, Johanna; Veijola, Riitta; Turtinen, Maaret; Ilonen, Jorma; Knip, Mikael; Finnish Pediatric Diabetes Register (November 2024). "Characteristics of Type 1 Diabetes Among Patients Carrying the Protective HLA-DQB1*06:02 Allele". HLA. 104 (5) e15720. doi:10.1111/tan.15720. ISSN 2059-2310. PMC 11586155. PMID 39564779.
^ Miller, Evan; Masood, Muaaz; Healy, William; Gunsolus, Brandy; Bravo-Egana, Valia (2022-05-25). "0415 Does HLA DQB1*0602 testing at our center improve the management of the patient with suspect narcolepsy? A quality improvement project". Sleep. 45 (Supplement_1): A185–A186. doi:10.1093/sleep/zsac079.412. ISSN 0161-8105.

[1] "Narcolepsy Research - FAQs ". Center for Narcolepsy. Retrieved 2026-02-20.

[:0-2] Simmons, Kimber M.; Mitchell, Angela M.; Alkanani, Aimon A.; McDaniel, Kristen A.; Baschal, Erin E.; Armstrong, Taylor; Pyle, Laura; Yu, Liping; Michels, Aaron W. (2020-08-01). "Failed Genetic Protection: Type 1 Diabetes in the Presence of HLA-DQB1*06:02". Diabetes. 69 (8): 1763–1769. doi:10.2337/db20-0038. ISSN 0012-1797. PMC 7372070. PMID 32439825.

[3] Han, Fang; Lin, Ling; Schormair, Barbara; Pizza, Fabio; Plazzi, Giuseppe; Ollila, Hanna M.; Nevsimalova, Sona; Jennum, Poul; Knudsen, Stine; Winkelmann, Juliane; Coquillard, Cristin; Babrzadeh, Farbod; Strom, Tim M.; Wang, Chunlin; Mindrinos, Michael (2014-10-01). "HLA DQB1*06:02 negative narcolepsy with hypocretin/orexin deficiency". Sleep. 37 (10): 1601–1608. doi:10.5665/sleep.4066. ISSN 1550-9109. PMC 4173917. PMID 25197808.

[4] Taka, Antti-Mathias; Härkönen, Taina; Vähäsalo, Paula; Vatanen, Tommi; Lempainen, Johanna; Veijola, Riitta; Turtinen, Maaret; Ilonen, Jorma; Knip, Mikael; Finnish Pediatric Diabetes Register (November 2024). "Characteristics of Type 1 Diabetes Among Patients Carrying the Protective HLA-DQB1*06:02 Allele". HLA. 104 (5) e15720. doi:10.1111/tan.15720. ISSN 2059-2310. PMC 11586155. PMID 39564779.

[5] Miller, Evan; Masood, Muaaz; Healy, William; Gunsolus, Brandy; Bravo-Egana, Valia (2022-05-25). "0415 Does HLA DQB1*0602 testing at our center improve the management of the patient with suspect narcolepsy? A quality improvement project". Sleep. 45 (Supplement_1): A185–A186. doi:10.1093/sleep/zsac079.412. ISSN 0161-8105.

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