Table 2.

SERPINA1 Polymorphisms Identified in the Coding Exons in SPIROMICS by Ethnic Group

SERPINA1 Variants*				Minor Allele Frequencies
rs Number†	cDNA Nucleotide Change	Coding Change	PI Type	Non-Hispanic White Individuals (n = 1,693)	African Americans (n = 385)	Hispanics (n = 90)
rs28931570‡	c.187C>T	Arg63Cys	I	0.003	0.001	0
rs199687431‡	c.206C>T	Ser69Phe	—	0.0003	0	0
rs111850950‡	c.250G>A	Ala84Thr	M6Passau	0.0003	0	0
rs376616935	c.286A>G	Thr96Ala	—	0	0.001	0
rs709932‡	c.374G>A	Arg125His	M2/M4	0.16	0.04	0.12
rs112030253‡	c.514G>T	Gly172Trp	M2Obernburg	0.002	0	0
rs267606950	c.552delC	Tyr184Terfs	Q0Granite Falls	0.0003	0	0
rs1206520317	c.632A>G	Tyr211Cys	—	0.0003	0	0
rs6647‡	c.710T>C	Val237Ala	M1Ala/M1Val	0.22	0.56	0.24
rs28929470‡	c.739C>T	Arg247Cys	F	0.004	0	0
rs121912714	c.839A>T	Asp280Val	PLowell, Q0Cardiff	0.0009	0	0
rs17580‡	c.863A>T	Glu288Val	S	0.04	0.008	0.05
rs141095970‡	c.879C>A	His293Gln	—	0	0.001	0
rs772436715	c.880C>T	Asp294Asn	—	0.0003	0	0
rs141620200‡	c.922G>T	Ala308Ser	—	0.004	0	0
rs773222881	c.926G>A	Ser309Asn	—	0	0	0.006
pos 94845916	c.950A>G	Ile317Thr	—	0.0003	0	0
rs139964603‡	c.976G>A	Val326Ile	—	0	0.003	0
rs377739083	c.1048C>T	Pro350Ser	—	0.0003	0	0
rs201788603‡	c.1061C>T	Ser354Phe	SMunich	0.0009	0	0
rs201318727	c.1090A>G	Ile364Val	—	0.0003	0	0
rs143370956‡	c.1093G>A	Asp365Asn	PSt. Albans	0	0.001	0
rs201774333	c.1095C>G	Asp365Glu	—	0	0	0.006
rs28929474‡	c.1096G>A	Glu366Lys	Z	0.03	0.005	0.03
rs61761869‡	c.1177C>T	Pro393Ser	MWurzburg	0.0009	0	0
rs1303‡	c.1200A>C	Glu400Asp	M3	0.25	0.09	0.22
rs754885222	c.1211A>G	Lys404Arg	—	0.0003	0	0

Definition of abbreviations: cDNA = complementary DNA; PI = protease inhibitor; pos = position; SPIROMICS = Subpopulations and Intermediate Outcomes Measures in Chronic Obstructive Pulmonary Disease Study.

Minor allele frequencies of missense and frameshift polymorphisms identified through resequencing of a 16.9 kB region of SERPINA1 are shown by ethnic group.

^*Variants are described by rs number, PI type based on protein isoelectric focusing, and amino acid coding change when indicated.

^† Novel variation or those without an rs number are shown by nucleotide pos on chromosome 14.

^‡ Twelve less common and rare coding variants (minor allele frequency < 0.05) and 3 common variants were genotyped with the Illumina OmniExpress HumanExome BeadChip (Illumina, Inc.) and PI S (not covered by the Chip) using a Sequenom Array.