TABLE 6.

Genetic diagnosis of familial hypercholesterolemia in Malaysia.

Case numbers	Age	Male	Diagnosis criteria	Genotyping	Main Findings	References
154	44.6	73 (47.4%)	Simon Broome criteria	The promoter region and exons 2–15 of the LDLR and MLPA for large rearrangement	Among these patients, 117 subjects (76.0%) had total 29 LDLR variants.	Al-Khateeb et al., 2011
140	47.0	73 (52.1%)	Dutch Lipid Clinic Network criteria	Selected SNPs of LDLR, APOB, PCSK9, and other genes	Significant differences in allele frequency among Malaysians and other populations (European Whites, Han Chinese, Yoruba and Gujarati Indians) were noted in 23 markers when comparing to publicly available data.	Alex et al., 2012
141	46.8	73 (51.8%)	Dutch Lipid Clinic Network criteria	A total of 1,536 SNPs by using high throughput microarray genotyping platform	Amongst the FH cases, 108 out of 141 (76.60%) have had at least one significant risk-associated SNP.	Lye et al., 2013

APOB, apolipoprotein B; LDLR, low-density lipoprotein receptor; PCSK9, proprotein convertase subtilisin/kexin type 9; MLPA, Multiplex ligation dependent probe analysis; SNP, single nucleotide polymorphism.