title: Association of mtDNA M/N haplogroups with systemic lupus erythematosus: a case-control study of Han Chinese women.
abstract: To investigate whether mitochondrial DNA haplogroups M or N are related to occurrence or manifestations of systemic lupus erythematosus (SLE), we collected M/N haplogrouping and clinical characteristics from 868 Han Chinese women with SLE, as well as for 870 age-matched healthy Han Chinese control women. M/N haplogroups were determined in all subjects using allele-specific amplification. The frequency of M haplogroup in all patients was 429 (49.4%) and the frequency of N haplogroup, 439 (50.6%). The corresponding frequencies in controls were 456 (52.4%) and 414 (47.6%) (P = 0.213). Among women older than 50 years at onset age, the N haplogroup was significantly higher in patients than in healthy controls (59.6% vs 41.7%, P = 0.042). The N haplogroup was associated with significantly higher risk for certain SLE characteristics: hematological system damage (OR 2.128, 95%CI 1.610 to 2.813), skin impairment (OR 1.873, 95%CI 1.428 to 2.457), neurological disturbance (OR 3.956, 95%CI 1.874 to 8.352) and alopecia (OR 1.322, 95%CI 1.007 to 1.737). Our results suggest that in Han Chinese women, the mtDNA N haplogroup is associated with higher risk of late-onset SLE, skin impairment, neurological disturbance, hematological system damage and alopecia.
authors.affiliation: Department of Nephropathy and Rheumatology, The third Xiangya Hospital of Central South University, No.138 Tongzipo Road, Changsha, 410013, China.
authors.forename: Youzhou
authors.initials: Y
authors.lastname: Tang
authors.affiliation: Department of Blood Transfusion, The fourth Central Hospital of Tianjin, No.1 Zhongshan Road, Tianjin, 300000, China.
authors.forename: Li
authors.initials: L
authors.lastname: Wang
authors.affiliation: School of life sciences, Central South University, No.172 Tongzipo Road, Changsha, 410013, China.
authors.forename: Min
authors.initials: M
authors.lastname: Zhu
authors.affiliation: Department of Nephropathy and Rheumatology, The third Xiangya Hospital of Central South University, No.138 Tongzipo Road, Changsha, 410013, China.
authors.forename: Ming
authors.initials: M
authors.lastname: Yang
authors.affiliation: Department of Urology, The third Xiangya Hospital of Central South University, No.138 Tongzipo Road, Changsha, 410013, China.
authors.forename: Kuangbiao
authors.initials: K
authors.lastname: Zhong
authors.affiliation: Department of Nephropathy and Rheumatology, The third Xiangya Hospital of Central South University, No.138 Tongzipo Road, Changsha, 410013, China.
authors.forename: Qing
authors.initials: Q
authors.lastname: Du
authors.affiliation: Department of Nephropathy and Rheumatology, The third Xiangya Hospital of Central South University, No.138 Tongzipo Road, Changsha, 410013, China.
authors.forename: Hao
authors.initials: H
authors.lastname: Zhang
authors.affiliation: Department of Nephropathy and Rheumatology, The third Xiangya Hospital of Central South University, No.138 Tongzipo Road, Changsha, 410013, China.
authors.forename: Ming
authors.initials: M
authors.lastname: Gui
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D004272:DNA, Mitochondrial; D005260:Female; D005784:Gene Amplification; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D012720:Severity of Illness Index
chemical_list: D004272:DNA, Mitochondrial