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. 2022 Jul 22;7:43. doi: 10.1038/s41525-022-00314-z

Table 1.

Clinical characteristics and mutation status of family members.

Family Member Age at Examination Diabetes BMI Age at Diabetes Diagnosis Duration of Diabetes Diabetes Treatment Albumin: Creatinine Ratio (μg/mg) ESRD Hypo-adiponectinemia Hyper-ceramidemia HLA Statusc ADIPOQ Mutation Status
II:4 >60 Yes 40.1 <40 51 Oral 34.2 No No Yes X/X WT
III:2 >60 No 24.6 14.8 No Yes Yes X/X MUT
III:3 >60 Yes 27.3 >60a Unknown 6.7 No Yes Yes X/X MUT
III:4 >60 Yes 25.6 <40 32 Oral >2500 Yes Yes Yes X/X MUT
III:5 >60 Yes 29.2 <40 44 Insulin 313.3 Yesb Yes Yes X/X MUT
III:7 >60 Yes 31.2 40–60 13 Oral >2500 Yes Yes No X/X MUT
III:8 40–60 Yes 31.4 40–60a 0 Diet 28.3 No Yes Yes DR4/X MUT
III:9 >60 Yes 33.2 <40 35 Insulin 22.4 Yesb Yes Yes DR4/X MUT
IV:1 40–60 No 35.5 2.6 No Yes Yes X/X MUT
IV:2 <40 Yes 36.7 <40a 0 Diet 39.3 No No No DR3/4 WT
IV:3 40–60 Yes 34.5 <40 25 Insulin 219.9 Yesb Yes Yes X/X MUT
IV:4 <40 Yes 31.3 <40 16 Insulin 325.6 Yesb Yes Yes DR3/X MUT
V:1 <40 Yes 37.8 <40a 0 Oral 16.2 No No No DR4/X WT
V:2 <40 Yes 26.9 <40a 1 Insulin 5.9 No No No DR4/X WT

Data are from baseline clinical characteristics collected at time of enrollment to the Joslin Study on the Genetics of Type 2 Diabetes except as noted. ADIPOQ mutation non-carriers (WT); ADIPOQ mutation carriers (MUT).

aThese family members had a diagnosis of diabetes either shortly before enrollment to the Joslin Study on the Genetics of Type 2 Diabetes (III:8) or following their participation in this study (III:3, IV:2, V:1, V:2).

bThese family members had either normoalbuminuria (III:9) or proteinuria (III:5, IV:3, and IV:4) at enrollment to the Joslin Study on the Genetics of Type 2 Diabetes and later progressed to end-stage renal disease (ESRD).

cHuman leukocyte antigen (HLA) alleles DR3 (haplotype DQA1*05:01-DQB1*02:01) and DR4 (haplotype DQA1*03-DQB1*03:02) are indicated, X is neither DR3 or DR4.