Table 2.

Clinical and biochemical characteristics of individuals carrying LOF variants in PPARG

PPARG variant	Effect on PPARG function	T2D status	Ethnicity	Age	Sex	BMI	Waist-to-hip ratio	SystolicBP	DiastolicBP	Total cholesterol	LDL	HDL	Triglycerides
R165T	Severe	Case	European	40	F	23.6		125	82.5	184			201
R165T	Severe	Case	European	74	M	33.6		150	115	189	100	35	280
F162V	Severe	Case	European	65	M	25.3	0.92	160	85	268	188	53	135
S249*	Severe	Case	European	55	F	21.4		177.5	102.5	228	145	41	211
Q121*	Severe	Control	Caucasian American	36–62†	F	20.0†		96†	67†	184†	114†	65†	12†
G161D	Severe	Case	European	54	M	25.2	0.94	149	84	256	173	46	183
G161D	Severe	Case	European	82	M	23.7	0.98	150	90	203	125	30	236
V318M	Severe	Case	European	55	F	29.3	0.88
R425C	Severe	Case	European	50	M	26.1		110	65	180		28	395
P426L	Mild	Case	European	49	F	24.5		134	77	217	137	36	223
E217K	Mild	Case	Hispanic	61	F	21.5	0.90			243	158	39	230
Y278C	Mild	Case	European	69	F	25.8	0.96	146	82	215	129	51	181
R140H	Mild	Case	Hispanic	55	F	31.0	0.96	128	81	202	139	37	126
R140H	Mild	Control	African American	67	F	33.2		130	77	249	186	41	119
M376I	Mild	Case	European	39	M	24.3	0.92	125	89	216	136	44	178
M376I	Mild	Case	European	44	M	26.5	1.03	135	86	193	104	57	164

Units of measurement are as follow: age is in years; systolic and diastolic blood pressure are in millimeters of mercury; total cholesterol, LDL, HDL, and triglycerides are in milligrams per deciliter. BMI, body mass index; HDL, high-density lipoprotein; LDL, low-density lipoprotein.

^†This individual had longitudinal measurements obtained over 30 y of follow up. The average values over this period are reported.